Publications

Abstract

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

The surge of research activity focussing on children's acquisition of verbs (e.g., Tomasello and Merriman 1996) addresses some fundamental questions: Just how variable across languages, and across individual children, is the process of verb learning? How specific are arguments to particular verbs in early child language? How does the grammatical category 'Verb' develop? The position of Universal Grammar, that a verb category is early, contrasts with that of Tomasello (1992), Pine and Lieven and their colleagues (1996, in press), and many others, that children develop a verb category slowly, gradually building up subcategorizations of verbs around pragmatic, syntactic, and semantic properties of the language they are exposed to. On this latter view, one would expect the language which the child is learning, the cultural milieu and the nature of the interactions in which the child is engaged, to influence the process of acquiring verb argument structures. This paper explores these issues by examining the development of argument representation in the Mayan language Tzeltal, in both its lexical and verbal cross-referencing forms, and analyzing the semantic and pragmatic factors influencing the form argument representation takes. Certain facts about Tzeltal (the ergative/ absolutive marking, the semantic specificity of transitive and positional verbs) are proposed to affect the representation of arguments. The first 500 multimorpheme combinations of 3 children (aged between 1;8 and 2;4) are examined. It is argued that there is no evidence of semantically light 'pathbreaking' verbs (Ninio 1996) leading the way into word combinations. There is early productivity of cross-referencing affixes marking A, S, and O arguments (although there are systematic omissions). The paper assesses the respective contributions of three kinds of factors to these results - structural (regular morphology), semantic (verb specificity) and pragmatic (the nature of Tzeltal conversational interaction).

Abstract

The systematic study of kinesics, gaze, and gestural aspects of communication in Central American cultures is a recent phenomenon, most of it focussing on the Mayan cultures of southern Mexico, Guatemala, and Belize. This article surveys ethnographic observations and research reports on bodily aspects of speaking in three domains: gaze and kinesics in social interaction, indexical pointing in adult and caregiver-child interactions, and co-speech gestures associated with “absolute” (geographically-based) systems of spatial reference. In addition, it reports how the indigenous co-speech gesture repertoire has provided the basis for developing village sign languages in the region. It is argued that studies of the embodied aspects of speech in the Mayan areas of Mexico and Central America have contributed to the typology of gestures and of spatial frames of reference. They have refined our understanding of how spatial frames of reference are invoked, communicated, and switched in conversational interaction and of the importance of co-speech gestures in understanding language use, language acquisition, and the transmission of culture-specific cognitive styles.

Abstract

This is a Spanish translation of Brown 1997.

Abstract

In this paper I take up the idea that human thinking is systematically biased in the direction of interactive thinking (E. Goody's anticipatory interactive planning), that is, that humans are peculiarly good at, and inordinately prone to, attributing intentions and goals to one other (as well as to non-humans), and that they routinely orient to presumptions about each other's intentions in what they say and do. I explore the implications of that idea for an understanding of politeness in interaction, taking as a starting point the Brown and Levinson (1987) model of politeness, which assumes interactive thinking, a notion implicit in the formulation of politeness as strategic orientation to face. Drawing on an analysis of the phenomenon of conventionalized ‘irony’ in Tzeltal, I emphasize that politeness does not inhere in linguistic form per se but is a matter of conveying a polite intention, and argue that Tzeltal irony provides a prime example of one way in which humans' highly-developed intellectual machinery for inferring alter's intentions is put to the service of social relationships.

Abstract

This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).

Abstract

This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.

Abstract

Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed

Abstract

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.

Abstract

Under noise or speech reductions, young adult listeners flexibly adjust the parameters of lexical activation and competition to allow for speech signal unreliability. Consequently, mismatches in the input are treated more leniently such that lexical candidates are not immediately deactivated. Using eyetracking, we assessed whether this modulation of recognition dynamics also occurs for older listeners. Dutch participants (aged 60+) heard Dutch sentences containing a critical word while viewing displays of four line drawings. The name of one picture shared either onset or rhyme with the critical word (i.e., was a phonological competitor). Sentences were either clear and noise-free, or had several phonemes replaced by bursts of noise. A larger preference for onset competitors than for rhyme competitors was observed in both clear and noise conditions; performance did not alter across condition. This suggests that dynamic adjustment of spoken-word recognition parameters in response to noise is less available to older listeners.

Abstract

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

Abstract

Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology

Abstract

This study examined whether musical training, ethnicity, and experience with a natural tone language influenced sensitivity to tone while listening to an artificial tone language. The language was designed with three tones, modeled after level-tone African languages. Participants listened to a 15-min random concatenation of six 3-syllable words. Sensitivity to tone was assessed using minimal pairs differing only in one syllable (nonword task: e.g., to-kà-su compared to ca-fí-to) or only in tone (tone task: e.g., to-kà-su compared to to-ká-su). Proficiency in an East Asian heritage language was the strongest predictor of success on the tone task. Asians without tone language experience were no better than other ethnic groups. We conclude by considering implications for research on second language learning, especially as approached through artificial language learning.

Abstract

Pediatric myelodysplastic syndrome (MDS) is a heterogeneous disease covering a spectrum ranging from aplasia (RCC) to myeloproliferation (RAEB(t)). In adult-type MDS there is increasing evidence for abnormal function of the bone-marrow microenvironment. Here, we extensively studied the mesenchymal stromal cells (MSCs) derived from children with MDS. MSCs were expanded from the bone-marrow of 17 MDS patients (RCC: n = 10 and advanced MDS: n = 7) and pediatric controls (n = 10). No differences were observed with respect to phenotype, differentiation capacity, immunomodulatory capacity or hematopoietic support. mRNA expression analysis by Deep-SAGE revealed increased IL-6 expression in RCC- and RAEB(t)-MDS. RCC-MDS MSC expressed increased levels of DKK3, a protein associated with decreased apoptosis. RAEB(t)-MDS revealed increased CRLF1 and decreased DAPK1 expressions. This pattern has been associated with transformation in hematopoietic malignancies. Genes reported to be differentially expressed in adult MDS-MSC did not differ between MSC of pediatric MDS and controls. An altered mRNA expression profile, associated with cell survival and malignant transformation, of MSC derived from children with MDS strengthens the hypothesis that the micro-environment is of importance in this disease. Our data support the understanding that pediatric and adult MDS are two different diseases. Further evaluation of the pathways involved might reveal additional therapy targets.

Abstract

An aberrant interaction between hematopoietic stem cells and mesenchymal stromal cells has been linked to disease and shown to contribute to the pathophysiology of hematologic malignancies in murine models. Juvenile myelomonocytic leukemia is an aggressive malignant disease affecting young infants. Here we investigated the impact of juvenile myelomonocytic leukemia on mesenchymal stromal cells. Mesenchymal stromal cells were expanded from bone marrow samples of patients at diagnosis (n=9) and after hematopoietic stem cell transplantation (n=7; from 5 patients) and from healthy children (n=10). Cells were characterized by phenotyping, differentiation, gene expression analysis (of controls and samples obtained at diagnosis) and in vitro functional studies assessing immunomodulation and hematopoietic support. Mesenchymal stromal cells from patients did not differ from controls in differentiation capacity nor did they differ in their capacity to support in vitro hematopoiesis. Deep-SAGE sequencing revealed differential mRNA expression in patient-derived samples, including genes encoding proteins involved in immunomodulation and cell-cell interaction. Selected gene expression normalized during remission after successful hematopoietic stem cell transplantation. Whereas natural killer cell activation and peripheral blood mononuclear cell proliferation were not differentially affected, the suppressive effect on monocyte to dendritic cell differentiation was increased by mesenchymal stromal cells obtained at diagnosis, but not at time of remission. This study shows that active juvenile myelomonocytic leukemia affects the immune response-related gene expression and function of mesenchymal stromal cells. In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data. Decreased immune surveillance might contribute to the therapy resistance and progression in juvenile myelomonocytic leukemia.

Abstract

Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

Abstract

This volume comprises refereed papers and abstracts of the 10th International Conference on the Evolution of Language (EVOLANGX), held in Vienna on 14–17th April 2014. As the leading international conference in the field, the biennial EVOLANG meeting is characterised by an invigorating, multidisciplinary approach to the origins and evolution of human language, and brings together researchers from many subject areas, including anthropology, archaeology, biology, cognitive science, computer science, genetics, linguistics, neuroscience, palaeontology, primatology and psychology. For this 10th conference, the proceedings will include a special perspectives section featuring prominent researchers reflecting on the history of the conference and its impact on the field of language evolution since the inaugural EVOLANG conference in 1996.

Abstract

A key part of learning to speak with others is figuring out when to start talking and how to hold the floor in conversation. For young children, the challenge of planning a linguistic response can slow down their response latencies, making misunderstanding, repair, and loss of the floor more likely. Like adults, children can mitigate their delays by using fillers (e.g., uh and um) at the start of their turns. In this chapter I analyze the onset and development of fillers in five children’s spontaneous speech from ages 1;6–3;6. My findings suggest that children start using fillers by 2;0, and use them to effectively mitigate delay in making a response.

Abstract

Speaker transitions in conversation are often brief, with minimal vocal overlap. Signed languages appear to defy this pattern with frequent, long spans of simultaneous signing. But recent evidence suggests that turn boundaries in signed language may only include the content-bearing parts of the turn (from the first stroke to the last), and not all turn-related movement (from first preparation to final retraction). We tested whether signers were able to anticipate “stroke-to-stroke” turn boundaries with only minimal conversational context. We found that, indeed, signers anticipated turn boundaries at the ends of turn-final strokes. Signers often responded early, especially when the turn was long or contained multiple possible end points. Early responses for long turns were especially apparent for interrogatives—long interrogative turns showed much greater anticipation compared to short ones.

Abstract

Conversation is a structured, joint action for which children need to learn a specialized set skills and conventions. Because conversation is a primary source of linguistic input, we can better grasp how children become active agents in their own linguistic development by studying their acquisition of conversational skills. In this chapter I review research on children’s turn-taking. This fundamental skill of human interaction allows children to gain feedback, make clarifications, and test hypotheses at every stage of development. I broadly review children’s conversational experiences, the types of turn-based contingency they must acquire, how they ask and answer questions, and when they manage to make timely responses

Abstract

Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.

Abstract

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.

Abstract

Sentence production is the process we use to create language-specific sentences that convey particular meanings. In production, there are complex interactions between meaning, words, and syntax at different points in sentences. Computational models can make these interactions explicit and connectionist learning algorithms have been useful for building such models. Connectionist models use domaingeneral mechanisms to learn internal representations and these mechanisms can also explain evidence of long-term syntactic adaptation in adult speakers. This paper will review work showing that these models can generalize words in novel ways and learn typologically-different languages like English and Japanese. It will also present modeling work which shows that connectionist learning algorithms can account for complex sentence production in children and adult production phenomena like structural priming, heavy NP shift, and conceptual/lexical accessibility.

Abstract

Lexicalized theories of syntax often assume that verb-structure regularities are mediated by lemmas, which abstract over variation in verb tense and aspect. German syntax seems to challenge this assumption, because verb position depends on tense and aspect. To examine how German speakers link these elements, a structural priming study was performed which varied syntactic structure, verb position (encoded by tense and aspect), and verb overlap. Abstract structural priming was found, both within and across verb position, but priming was larger when the verb position was the same between prime and target. Priming was boosted by verb overlap, but there was no interaction with verb position. The results can be explained by a lemma model where tense and aspect are linked to structural choices in German. Since the architecture of this lemma model is not consistent with results from English, a connectionist model was developed which could explain the cross-linguistic variation in the production system. Together, these findings support the view that language learning plays an important role in determining the nature of structural priming in different languages

Abstract

Studies on children’s use of intonation in reference are few in number but are diverse in terms of theoretical frameworks and intonational parameters. In the current review, I present a re-analysis of the referents in each study, using a three-dimension approach (i.e. referential givenness-newness, relational givenness-newness, contrast), discuss the use of intonation at two levels (phonetic, phonological), and compare findings from different studies within a single framework. The patterns stemming from these studies may be limited in generalisability but can serve as initial hypotheses for future work. Furthermore, I examine the role of input as available in infant direct speech in the acquisition of intonational encoding of referents. In addition, I discuss how future research can advance our knowledge.

Abstract

While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data. We applied pICA-R to analyze gray matter density (GMD) images (274,131 voxels) in conjunction with single nucleotide polymorphism (SNP) data (666,019 markers) collected from 1,256 healthy individuals of the Brain Imaging Genetics (BIG) study. Guided by a genetic reference derived from the gene GNA14, pICA-R identified a significant SNP-GMD association (r = −0.16, P = 2.34 × 10−8), implying that subjects with specific genotypes have lower localized GMD. The identified components were then projected to an independent dataset from the Mind Clinical Imaging Consortium (MCIC) including 89 healthy individuals, and the obtained loadings again yielded a significant SNP-GMD association (r = −0.25, P = 0.02). The imaging component reflected GMD variations in frontal, precuneus, and cingulate regions. The SNP component was enriched in genes with neuronal functions, including synaptic plasticity, axon guidance, molecular signal transduction via PKA and CREB, highlighting the GRM1, PRKCH, GNA12, and CAMK2B genes. Collectively, our findings suggest that GNA12 and GNA14 play a key role in the genetic architecture underlying normal GMD variation in frontal and parietal regions

Abstract

Previous work based on different groups of children has shown that four- to five-year-old children are similar to adults in both producing and comprehending the focus-toaccentuation mapping in Dutch, contra the alleged productionprecedes- comprehension asymmetry in earlier studies. In the current study, we addressed the question of whether there are individual differences in the production-comprehension (a)symmetricity. To this end, we examined the use of prosody in focus marking in production and the processing of focusrelated prosody in online language comprehension in the same group of 4- to 5-year-olds. We have found that the relationship between comprehension and production can be rather diverse at an individual level. This result suggests some degree of independence in learning to use prosody to mark focus in production and learning to process focus-related prosodic information in online language comprehension, and implies influences of other linguistic and non-linguistic factors on the production-comprehension (a)symmetricity

Abstract

Despite of the different functions of pitch in tone and nontone languages, rises and falls are common pitch patterns across different languages. In the current study, we ask what is the language specific phonetic realization of rises and falls. Chinese and Dutch speakers participated in a production experiment. We used contexts composed for conveying specific communicative purposes to elicit rises and falls. We measured both tonal alignment and tonal scaling for both patterns. For the alignment measurements, we found language specific patterns for the rises, but for falls. For rises, both peak and valley were aligned later among Chinese speakers compared to Dutch speakers. For all the scaling measurements (maximum pitch, minimum pitch, and pitch range), no language specific patterns were found for either the rises or the falls

Abstract

Same-different discrimination judgments for pairs of Korean stop consonants, or of Japanese syllables differing in phonetic segment length, were made by adult Korean adoptees in the Netherlands, by matched Dutch controls, and Korean controls. The adoptees did not outdo either control group on either task, although the same individuals had performed significantly better than matched controls on an identification learning task. This suggests that early exposure to multiple phonetic systems does not specifically improve acoustic-phonetic skills; rather, enhanced performance suggests retained language knowledge.

Abstract

The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency

Abstract

Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production

Abstract

Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.

Abstract

In a semantic priming paradigm, the effects of different levels of processing on the N400 were assessed by changing the task demands. In the lexical decision task, subjects had to discriminate between words and nonwords and in the physical task, subjects had to discriminate between uppercase and lowercase letters. The proportion of related versus unrelated word pairs differed between conditions. A lexicality test on reaction times demonstrated that the physical task was performed nonlexically. Moreover, a semantic priming reaction time effect was obtained only in the lexical decision task. The level of processing clearly affected the event-related potentials. An N400 priming effect was only observed in the lexical decision task. In contrast, in the physical task a P300 effect was observed for either related or unrelated targets, depending on their frequency of occurrence. Taken together, the results indicate that an N400 priming effect is only evoked when the task performance induces the semantic aspects of words to become part of an episodic trace of the stimulus event.

Abstract

“Gesture-first” theories dismiss ancestral great apes’ vocalization as a substrate for language evolution based on the claim that extant apes exhibit minimal learning and volitional control of vocalization. Contrary to this claim, we present data of novel learned and voluntarily controlled vocal behaviors produced by a human-fostered gorilla (G. gorilla gorilla). These behaviors demonstrate varying degrees of flexibility in the vocal apparatus (including diaphragm, lungs, larynx, and supralaryngeal articulators), and are predominantly performed in coordination with manual behaviors and gestures. Instead of a gesture-first theory, we suggest that these findings support multimodal theories of language evolution in which vocal and gestural forms are coordinated and supplement one another

Abstract

Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.

Abstract

Speech processing can often take place in adverse listening conditions that involve the mixing of speech and background noise. In this study, we investigated processing dependencies between background noise and indexical speech features, using a speeded classification paradigm (Garner, 1974; Exp. 1), and whether background noise is encoded and represented in memory for spoken words in a continuous recognition memory paradigm (Exp. 2). Whether or not the noise spectrally overlapped with the speech signal was also manipulated. The results of Experiment 1 indicated that background noise and indexical features of speech (gender, talker identity) cannot be completely segregated during processing, even when the two auditory streams are spectrally nonoverlapping. Perceptual interference was asymmetric, whereby irrelevant indexical feature variation in the speech signal slowed noise classification to a greater extent than irrelevant noise variation slowed speech classification. This asymmetry may stem from the fact that speech features have greater functional relevance to listeners, and are thus more difficult to selectively ignore than background noise. Experiment 2 revealed that a recognition cost for words embedded in different types of background noise on the first and second occurrences only emerged when the noise and the speech signal were spectrally overlapping. Together, these data suggest integral processing of speech and background noise, modulated by the level of processing and the spectral separation of the speech and noise.

Abstract

The present study investigated the effect of orthography on the learning and subsequent processing of pronunciation variants in a second language. Dutch learners of French learned reduced pronunciation variants that result from schwa-zero alternation in French (e.g., reduced /ʃnij/ from chenille 'caterpillar'). Half of the participants additionally learnt the words' spellings, which correspond more closely to the full variants with schwa. On the following day, participants performed an auditory lexical decision task, in which they heard half of the words in their reduced variants, and the other half in their full variants. Participants who had exclusively learnt the auditory forms performed significantly worse on full variants than participants who had also learnt the spellings. This shows that learners integrate phonological and orthographic information to process pronunciation variants. There was no difference between both groups in their performances on reduced variants, suggesting that the exposure to spelling does not impede learners' processing of these variants.

Abstract

In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.

Abstract

Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.

Abstract

This paper discusses some improvements in recent and planned versions of the multimodal annotation tool ELAN, which are targeted at improving the usability of annotated files. Increased support for multilingual documents is provided, by allowing for multilingual vocabularies and by specifying a language per document, annotation layer (tier) or annotation. In addition, improvements in the search possibilities and the display of the results have been implemented, which are especially relevant in the interpretation of the results of complex multi-tier searches.

Abstract

Collocations generated by concordancers are a standard instrument in the exploitation of text corpora for the analysis of language use. Multimodal corpora show similar types of patterns, activities that frequently occur together, but there is no tool that offers facilities for visualising such patterns. Examples include timing of eye contact with respect to speech, and the alignment of activities of the two hands in signed languages. This paper describes recent enhancements to the standard CLARIN tools ELAN and TROVA for multimodal annotation to address these needs: first of all the query and concordancing functions were improved, and secondly the tools now generate visualisations of multilayer collocations that allow for intuitive explorations and analyses of multimodal data. This will provide a boost to the linguistic fields of gesture and sign language studies, as it will improve the exploitation of multimodal corpora.

Abstract

The present study investigated the neural correlates of infant discrimination of very similar linguistic varieties (Quebecois and Parisian French) using functional Near InfraRed Spectroscopy. In line with previous behavioral and electrophysiological data, there was no evidence that 3-month-olds discriminated the two regional accents, whereas 5-month-olds did, with the locus of discrimination in left anterior perisylvian regions. These neuroimaging results suggest that a developing language network relying crucially on left perisylvian cortices sustains infants' discrimination of similar linguistic varieties within this early period of infancy.

Abstract

There are increasing reports that individual variation in behavioral and neurophysiological measures of infant speech processing predicts later language outcomes, and specifically concurrent or subsequent vocabulary size. If such findings are held up under scrutiny, they could both illuminate theoretical models of language development and contribute to the prediction of communicative disorders. A qualitative, systematic review of this emergent literature illustrated the variety of approaches that have been used and highlighted some conceptual problems regarding the measurements. A quantitative analysis of the same data established that the bivariate relation was significant, with correlations of similar strength to those found for well-established nonlinguistic predictors of language. Further exploration of infant speech perception predictors, particularly from a methodological perspective, is recommended.

Abstract

Typically, the point vowels [i,ɑ,u] are acoustically more peripheral in infant-directed speech (IDS) compared to adult-directed speech (ADS). If caregivers seek to highlight lexically relevant contrasts in IDS, then two sounds that are contrastive should become more distinct, whereas two sounds that are surface realizations of the same underlying sound category should not. To test this prediction, vowels that are phonemically contrastive ([i-ɪ] and [eɪ-ε]), vowels that map onto the same underlying category ([æ- ] and [ε- ]), and the point vowels [i,ɑ,u] were elicited in IDS and ADS by American English mothers of two age groups of infants (four- and eleven-month-olds). As in other work, point vowels were produced in more peripheral positions in IDS compared to ADS. However, there was little evidence of hyperarticulation per se (e.g. [i-ɪ] was hypoarticulated). We suggest that across-the-board lexically based hyperarticulation is not a necessary feature of IDS.

Abstract

Odor naming is difficult for people, but recent cross-cultural research suggests this difficulty is culture-specific. Jahai speakers (hunter-gatherers from the Malay Peninsula) name odors as consistently as colors, and much better than English speakers (Majid & Burenhult, 2014). In Jahai the linguistic advantage for smells correlates with a cultural interest in odors. Here we ask whether sub-cultures in the West with odor expertise also show superior odor naming. We tested wine and coffee experts (who have specialized odor training) in an odor naming task. Both wine and coffee experts were no more accurate or consistent than novices when naming odors. Although there were small differences in naming strategies, experts and non-experts alike relied overwhelmingly on source-based descriptions. So the specific language experts speak continues to constrain their ability to express odors. This suggests expertise alone is not sufficient to overcome the limits of language in the domain of smell.

Abstract

Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.

Abstract

Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.

Abstract

In the wild, chimpanzees (Pan troglodytes) are often faced with clumped food resources that they may know how to access but abstain from doing so due to social pressures. To better understand how social settings influence resource acquisition, we tested fifteen semi-wild chimpanzees from two social groups alone and in the presence of others. We investigated how resource acquisition was affected by relative social dominance, whether collaborative problem solving or (active or passive) sharing occurred amongst any of the dyads, and whether these outcomes were related to relationship quality as determined from six months of observational data. Results indicated that chimpanzees, regardless of rank, obtained fewer rewards when tested in the presence of others compared to when they were tested alone. Chimpanzees demonstrated behavioral inhibition; chimpanzees who showed proficient skill when alone often abstained from solving the task when in the presence of others. Finally, individuals with close social relationships spent more time together in the problem solving space, but collaboration and sharing were infrequent and sessions in which collaboration or sharing did occur contained more instances of aggression. Group living provides benefits and imposes costs, and these findings highlight that one cost of group living may be diminishing productive individual behaviors.

Abstract

Recent debates have questioned the extent to which culturally-transmitted norms drive behavioral variation in resource sharing across human populations. We shed new light on this discussion by examining the group-level variation in the social dynamics and resource sharing of chimpanzees, a species that is highly social and forms long-term community associations but differs from humans in the extent to which cultural norms are adopted and enforced. We rely on theory developed in primate socioecology to guide our investigation in four neighboring chimpanzee groups at a sanctuary in Zambia. We used a combination of experimental and observational approaches to assess the distribution of resource holding potential in each group. In the first assessment, we measured the proportion of the population that gathered in a resource-rich zone, in the second we assessed naturally occurring social spacing via social network analysis, and in the third we assessed the degree to which benefits were equally distributed within the group. We report significant, stable group-level variation across these multiple measures, indicating that group-level variation in resource sharing and social tolerance is not necessarily reliant upon human-like cultural norms.

Abstract

Assimilation of place of articulation across a nasal and a following stop consonant is obligatory in Japanese, but not in Dutch. In four experiments the processing of assimilated forms by speakers of Japanese and Dutch was compared, using a task in which listeners blended pseudo-word pairs such as ranga-serupa. An assimilated blend of this pair would be rampa, an unassimilated blend rangpa. Japanese listeners produced significantly more assimilated than unassimilated forms, both with pseudo-Japanese and pseudo-Dutch materials, while Dutch listeners produced significantly more unassimilated than assimilated forms in each materials set. This suggests that Japanese listeners, whose native-language phonology involves obligatory assimilation constraints, represent the assimilated nasals in nasal-stop sequences as unmarked for place of articulation, while Dutch listeners, who are accustomed to hearing unassimilated forms, represent the same nasal segments as marked for place of articulation.

Abstract

Infants acquire whatever language is spoken in the environment into which they are born. The mental capability of the newborn child is not biased in any way towards the acquisition of one human language rather than another. Because psychologists who attempt to model the process of language comprehension are interested in the structure of the human mind, rather than in the properties of individual languages, strategies which they incorporate in their models are presumed to be universal, not language-specific. In other words, strategies of comprehension are presumed to be characteristic of the human language processing system, rather than, say, the French, English, or Igbo language processing systems. We report here, however, on a comprehension strategy which appears to be used by native speakers of French but not by native speakers of English.

Abstract

Languages contain tens of thousands of words, but these are constructed from a tiny handful of phonetic elements. Consequently, words resemble one another, or can be embedded within one another, a coup stick snot with standing. me process of spoken-word recognition by human listeners involves activation of multiple word candidates consistent with the input, and direct competition between activated candidate words. Further, human listeners are sensitive, at an early, prelexical, stage of speeeh processing, to constraints on what could potentially be a word of the language.

Abstract

Speech signals originate as a sequence of linguistic units selected by speakers, but these units are necessarily realised in the suprasegmental dimensions of time, frequency and amplitude. For this reason prosodic structure has been viewed as a mandatory target of language processing by both speakers and listeners. In apparent contradiction, however, prosody has also been argued to be ancillary rather than core linguistic structure, making processing of prosodic structure essentially optional. In the present tribute to one of the luminaries of prosodic research for the past quarter century, we review evidence from studies of the processing of lexical stress and focal accent which reconciles these views and shows that both claims are, each in their own way, fully true.

Abstract

Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.

Abstract

The phoneme detection task is widely used in spoken word recognition research. Alphabetically literate participants, however, are more used to explicit representations of letters than of phonemes. The present study explored whether phoneme detection is sensitive to how target phonemes are, or may be, orthographically realised. Listeners detected the target sounds [b,m,t,f,s,k] in word-initial position in sequences of isolated English words. Response times were faster to the targets [b,m,t], which have consistent word-initial spelling, than to the targets [f,s,k], which are inconsistently spelled, but only when listeners’ attention was drawn to spelling by the presence in the experiment of many irregularly spelled fillers. Within the inconsistent targets [f,s,k], there was no significant difference between responses to targets in words with majority and minority spellings. We conclude that performance in the phoneme detection task is not necessarily sensitive to orthographic effects, but that salient orthographic manipulation can induce such sensitivity.

Abstract

Two lexical decision experiments in Cantonese are described in which the recognition of spoken target words as a function of phonological similarity to a preceding prime is investigated. Phonological similaritv in first syllables produced inhibition, while similarity in second syllables led to facilitation. Differences between syllables in tonal and segmental structure had generally similar effects.

Abstract

Orthographies encode phonological information only at the level of words (chiefly, the information encoded concerns phonetic segments; in some cases, tonal information or default stress may be encoded). Of primary interest to second language (L2) learners is whether orthography can assist in clarifying L2 phonological distinctions that are particularly difficult to perceive (e.g., where one native-language phonemic category captures two L2 categories). A review of spoken-word recognition evidence suggests that orthographic information can install knowledge of such a distinction in lexical representations but that this does not affect learners’ ability to perceive the phonemic distinction in speech. Words containing the difficult phonemes become even harder for L2 listeners to recognize, because perception maps less accurately to lexical content.

Abstract

This chapter highlights that most language behavior consists of speaking and listening. The chapter also reveals differences and similarities between speaking and listening. The laboratory study of word production raises formidable problems; ensuring that a particular word is produced may subvert the spontaneous production process. Word production is investigated via slips and tip-of-the-tongue (TOT), primarily via instances of processing failure and via the technique of via the picture-naming task. The methodology of word production is explained in the chapter. The chapter also explains the phenomenon of interaction between various stages of word production and the process of speech recognition. In this context, it explores the difference between sound and meaning and examines whether or not the comparisons are appropriate between the processes of recognition and production of spoken words. It also describes the similarities and differences in the structure of the recognition and production systems. Finally, the chapter highlights the common issues in recognition and production research, which include the nuances of frequency of occurrence, morphological structure, and phonological structure.

Abstract

Different linguistic structures allow us to highlight distinct aspects of a situation. The aim of this survey is to investigate similarities and differences in the expression of situations or events as “stative” (maintaining a state), “inchoative” (adopting a state) and “agentive” (causing something to be in a state). The questionnaire focuses on the encoding of stative, inchoative and agentive possibilities for the translation equivalents of a set of English verbs.

Abstract

Expressions of human activities and states are a rich area for cross-linguistic comparison. Some languages of the world treat human posture verbs (e.g., sit, lie, kneel) as a special class of predicates, with distinct formal properties. This survey examines lexical, semantic and grammatical patterns for posture verbs, with special reference to contrasts between “stative” (maintaining a posture), “inchoative” (adopting a posture), and “agentive” (causing something to adopt a posture) constructions. The enquiry is thematically linked to the more general questionnaire 'Intransitive Predicate Form Class Survey'.

Abstract

This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.

Abstract

This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

Abstract

Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.

Abstract

Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

Abstract

Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes

Abstract

FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells