Publications

Abstract

Researchers interested in face processing have recently debated whether access to the name of a known person occurs in parallel with retrieval of semantic-biographical codes, rather than in a sequential fashion. Recently, Schweinberger, Burton, and Kelly (2001) took a failure to obtain a semantic context effect in a manual syllable judgment task on names of famous faces as support for this position. In two experiments, we compared the effects of visually presented categorically related prime words with either objects (e.g. prime: animal; target: dog) or faces of celebrities (e.g. prime: actor; target: Bruce Willis) as targets. Targets were either manually categorized with regard to the number of syllables (as in Schweinberger et al.), or they were overtly named. For neither objects nor faces was semantic priming obtained in syllable decisions; crucially, however, priming was obtained when objects and faces were overtly named. These results suggest that both face and object naming are susceptible to semantic context effects

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 paper argues that inter-individual and inter-group variation in language acquisition, perception, processing and production, rooted in our biology, may play a largely neglected role in sound change. We begin by discussing the patterning of these differences, highlighting those related to vocal tract anatomy with a foundation in genetics and development. We use our ArtiVarK database, a large multi-ethnic sample comprising 3D intraoral optical scans, as well as structural, static and real-time MRI scans of vocal tract anatomy and speech articulation, to quantify the articulatory strategies used to produce the North American English /r/ and to statistically show that anatomical factors seem to influence these articulatory strategies. Building on work showing that these alternative articulatory strategies may have indirect coarticulatory effects, we propose two models for how biases due to variation in vocal tract anatomy may affect sound change. The first involves direct overt acoustic effects of such biases that are then reinterpreted by the hearers, while the second is based on indirect coarticulatory phenomena generated by acoustically covert biases that produce overt “at-a-distance” acoustic effects. This view implies that speaker communities might be “poised” for change because they always contain pools of “standing variation” of such biased speakers, and when factors such as the frequency of the biased speakers in the community, their positions in the communicative network or the topology of the network itself change, sound change may rapidly follow as a self-reinforcing network-level phenomenon, akin to a phase transition. Thus, inter-speaker variation in structured and dynamic communicative networks may couple the initiation and actuation of sound change.

Abstract

Linguistic diversity is affected by multiple factors, but it is usually assumed that variation in the anatomy of our speech organs
plays no explanatory role. Here we use realistic computer models of the human speech organs to test whether inter-individual
and inter-group variation in the shape of the hard palate (the bony roof of the mouth) affects acoustics of speech sounds. Based
on 107 midsagittal MRI scans of the hard palate of human participants, we modelled with high accuracy the articulation of a set
of five cross-linguistically representative vowels by agents learning to produce speech sounds. We found that different hard
palate shapes result in subtle differences in the acoustics and articulatory strategies of the produced vowels, and that these
individual-level speech idiosyncrasies are amplified by the repeated transmission of language across generations. Therefore,
we suggest that, besides culture and environment, quantitative biological variation can be amplified, also influencing language.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

Abstract

This chapter discusses the genetic foundations of the human capacity for language. It reviews the molecular structure of the genome and the complex molecular mechanisms that allow genetic information to influence multiple levels of biology. It goes on to describe the active regulation of genes and their formation of complex genetic pathways that in turn control the cellular environment and function. At each of these levels, examples of genes and genetic variants that may influence the human capacity for language are given. Finally, it discusses the value of using animal models to understand the genetic underpinnings of speech and language. From this chapter will emerge the complexity of the genome in action and the multidisciplinary efforts that are currently made to bridge the gap between genetics and language.

Abstract

Do interlocutors adjust their conversational strategies to the specific contextual demands of a given situation? Prior studies have yielded conflicting results, making it unclear how strategies vary with demands. We combine insights from qualitative and quantitative approaches in a within-participant experimental design involving two different contexts: spontaneously occurring conversations (SOC) and task-oriented conversations (TOC). We systematically assess backchanneling, other-repair and linguistic alignment. We find that SOC exhibit a higher number of backchannels, a reduced and more generic repair format and higher rates of lexical and syntactic alignment. TOC are characterized by a high number of specific repairs and a lower rate of lexical and syntactic alignment. However, when alignment occurs, more linguistic forms are aligned. The findings show that conversational strategies adapt to specific contextual demands.

Abstract

Current research on spoken language does not provide a consistent picture as to whether prosody, the melody and rhythm of speech, conveys a specific meaning. Perception studies show that English listeners assign meaning to prosodic patterns, and, for instance, associate some accents with contrast, whereas Dutch listeners behave more controversially. In two ERP studies we tested how Dutch listeners process words carrying two types of accents, which either provided new information (new information accents) or corrected information (corrective accents), both in single sentences (experiment 1) and after corrective and new information questions (experiment 2). In both experiments corrective accents elicited a sustained positivity as compared to new information accents, which started earlier in context than in single sentences. The positivity was not modulated by the nature of the preceding question, suggesting that the underlying neural mechanism likely reflects the construction of an interpretation to the accented word, either by identifying an alternative in context or by inferring it when no context is present. Our experimental results provide strong evidence for inferential processes related to prosodic contours in Dutch

Abstract

The papers in this volume focus on the impact of information structure on language acquisition, thereby taking different linguistic approaches into account. They start from an empirical point of view, and examine data from natural first and second language acquisition, which cover a wide range of varieties, from early learner language to native speaker production and from gesture to Creole prototypes. The central theme is the interplay between principles of information structure and linguistic structure and its impact on the functioning and development of the learner's system. The papers examine language-internal explanatory factors and in particular the communicative and structural forces that push and shape the acquisition process, and its outcome. On the theoretical level, the approach adopted appeals both to formal and communicative constraints on a learner’s language in use. Two empirical domains provide a 'testing ground' for the respective weight of grammatical versus functional determinants in the acquisition process: (1) the expression of finiteness and scope relations at the utterance level and (2) the expression of anaphoric relations at the discourse level.

Abstract

The notion that the form of a word bears an arbitrary relation to its meaning accounts only partly for the attested form to meaning correspondences in the world’s languages. Recent research suggests a more textured view of vocabulary structure, in which arbitrariness is complemented by iconicity (aspects of form resemble aspects of meaning) and systematicity (statistical regularities in forms predict function). Experimental evidence suggests these form to meaning correspondences serve different functions in language processing, development and communication: systematicity facilities category learning by means of phonological cues, iconicity facilitates word learning and communication by means of perceptuomotor analogies, and arbitrariness facilitates meaning individuation through distinctive forms. Processes of cultural evolution help explain how these competing motivations shape vocabulary structure.

Abstract

This chapter makes the case for ‘ideophone’ as a comparative concept: a notion that captures a recurrent typological pattern and provides a template for understanding language-specific phenomena that prove similar. It revises an earlier definition to account for the observation that ideophones typically form an open lexical class, and uses insights from canonical typology to explore the larger typological space. According to the resulting definition, a canonical ideophone is a member of an open lexical class of marked words that depict sensory imagery. The five elements of this definition can be seen as dimensions that together generate a possibility space to characterise cross-linguistic diversity in depictive means of expression. This approach allows for the systematic comparative treatment of ideophones and ideophone-like phenomena. Some phenomena in the larger typological space are discussed to demonstrate the utility of the approach: phonaesthemes in European languages, specialised semantic classes in West-Chadic, diachronic diversions in Aslian, and depicting constructions in signed languages.

Abstract

Informal paraphrases by native speaker consultants are crucial tools in linguistic fieldwork. When recorded, archived, and analysed, they offer rich data that can be mined for many purposes, from lexicography to semantic typology and from ethnography to the investigation of gesture and speech. This paper describes a procedure for the collection and analysis of folk definitions that are native (in the language under study rather than the language of analysis), informal (spoken rather than written), and multi-modal (preserving the integrity of gesture-speech composite utterances). The value of folk definitions is demonstrated using the case of ideophones, words that are notoriously hard to study using traditional elicitation methods. Three explanatory strategies used in a set of folk definitions of ideophones are examined: the offering of everyday contexts of use, the use of depictive gestures, and the use of sense relations as semantic anchoring points. Folk definitions help elucidate word meanings that are hard to capture, bring to light cultural background knowledge that often remains implicit, and take seriously the crucial involvement of native speaker consultants in linguistic fieldwork. They provide useful data for language documentation and are an essential element of any toolkit for linguistic and ethnographic field research.

Abstract

Repetition is one of the most basic operations on talk, often discussed for its iconic meanings. Ideophones are marked words that depict sensory imagery, often identified by their reduplicated forms. Yet not all reduplication is iconic, and not all ideophones are reduplicated. This paper discusses the semantics and pragmatics of repeated talk (repetition as well as reduplication), with special focus on the intersection of reduplicative processes and ideophonic words. Various formal features of ideophones suggest that it is fruitful to distinguish two modes of representation in language —description and depiction— along with cues like prosodic foregrounding that can steer listeners’ interpretation from one to the other. What is special about reduplication is that it can naturally partake in both of these modes of representation, which is why it is so common in ideophones as well as in other areas of grammar. Using evidence from Siwu, Korean, Semai and a range of other languages, this paper shows how the study of ideophones sheds light on the interpretation of repeated talk and can lead to a more holistic understanding of reduplicative phenomena in language.

Abstract

This special issue reports on a cross-linguistic study of other-initiated repair, a domain at the crossroads of language, mind, and social life. Other-initiated repair is part of a system of practices that people use to deal with problems of speaking, hearing and understanding. The contributions in this special issue describe the linguistic resources and interactional practices associated with other-initiated repair in ten different languages. Here we provide an overview of the research methods and the conceptual framework. The empirical base for the project consists of corpora of naturally occurring conversations, collected in fieldsites around the world. Methodologically, we combine qualitative analysis with a comparative-typological perspective, and we formulate principles for the cross-linguistic comparison of conversational structures. A key move, of broad relevance to pragmatic typology, is the recognition that formats for repair initiation form paradigm-like systems that are ultimately language-specific, and that comparison is best done at the level of the constitutive properties of these formats. These properties can be functional (concerning aspects of linguistic formatting) as well as sequential (concerning aspects of the interactional environment). We show how functional and sequential aspects of conversational structure can capture patterns of commonality and diversity in conversational structures within and across languages

Abstract

This article describes the interactional patterns and linguistic structures associated with other-initiated repair in Siwu, a Kwa language spoken in eastern Ghana. Other-initiated repair is the set of techniques used by people to deal with problems in speaking, hearing and understanding. Formats for repair initiation in Siwu exploit language-specific resources like question words and noun class morphology. At the same time, the basic structure of the system bears a strong similarity other-initiated repair in other languages. Practices described for Siwu thus are potentially of broader relevance to the study of other-initiated repair. This article documents how different prosodic realisations of repair initiators may index social actions and features of the speech event; how two distinct roles of repetition in repair initiators are kept apart by features of turn design; and what kinds of items can be treated as ‘dispensable’ in resayings. By charting how other-initiated repair uses local linguistic resources and yet is shaped by interactional needs that transcend particular languages, this study contributes to the growing field of pragmatic typology: the study of systems of language use and the principles that shape them

Abstract

There would be little adaptive value in a complex communication system like human language if there were no ways to detect and correct problems. A systematic comparison of conversation in a broad sample of the world’s languages reveals a universal system for the real-time resolution of frequent breakdowns in communication. In a sample of 12 languages of 8 language families of varied typological profiles we find a system of ‘other-initiated repair’, where the recipient of an unclear message can signal trouble and the sender can repair the original message. We find that this system is frequently used (on average about once per 1.4 minutes in any language), and that it has detailed common properties, contrary to assumptions of radical cultural variation. Unrelated languages share the same three functionally distinct types of repair initiator for signalling problems and use them in the same kinds of contexts. People prefer to choose the type that is the most specific possible, a principle that minimizes cost both for the sender being asked to fix the problem and for the dyad as a social unit. Disruption to the conversation is kept to a minimum, with the two-utterance repair sequence being on average no longer that the single utterance which is being fixed. The findings, controlled for historical relationships, situation types and other dependencies, reveal the fundamentally cooperative nature of human communication and offer support for the pragmatic universals hypothesis: while languages may vary in the organization of grammar and meaning, key systems of language use may be largely similar across cultural groups. They also provide a fresh perspective on controversies about the core properties of language, by revealing a common infrastructure for social interaction which may be the universal bedrock upon which linguistic diversity rests.

Abstract

Some languages describe musical pitch in terms of spatial height; others in terms of thickness. Differences in pitch metaphors also shape adults’ nonlinguistic space-pitch representations. At the same time, 4-month-old infants have both types of space-pitch mappings available. This tension between prelinguistic space-pitch associations and their subsequent linguistic mediation raises questions about the acquisition of space-pitch metaphors. To address this issue, 5-year-old Dutch children were tested on their linguistic knowledge of pitch metaphors, and nonlinguistic space-pitch associations. Our results suggest 5-year-olds understand height-pitch metaphors in a reversed fashion (high pitch = low). Children displayed good comprehension of a thickness-pitch metaphor, despite its absence in Dutch. In nonlinguistic tasks, however, children did not show consistent space-pitch associations. Overall, pitch representations do not seem to be influenced by linguistic metaphors in 5-year-olds, suggesting that effects of language on musical pitch arise rather late during development.

Abstract

Visual information conveyed by iconic hand gestures and visible speech can enhance speech comprehension under adverse listening conditions for both native and non‐native listeners. However, how a listener allocates visual attention to these articulators during speech comprehension is unknown. We used eye‐tracking to investigate whether and how native and highly proficient non‐native listeners of Dutch allocated overt eye gaze to visible speech and gestures during clear and degraded speech comprehension. Participants watched video clips of an actress uttering a clear or degraded (6‐band noise‐vocoded) action verb while performing a gesture or not, and were asked to indicate the word they heard in a cued‐recall task. Gestural enhancement was the largest (i.e., a relative reduction in reaction time cost) when speech was degraded for all listeners, but it was stronger for native listeners. Both native and non‐native listeners mostly gazed at the face during comprehension, but non‐native listeners gazed more often at gestures than native listeners. However, only native but not non‐native listeners' gaze allocation to gestures predicted gestural benefit during degraded speech comprehension. We conclude that non‐native listeners might gaze at gesture more as it might be more challenging for non‐native listeners to resolve the degraded auditory cues and couple those cues to phonological information that is conveyed by visible speech. This diminished phonological knowledge might hinder the use of semantic information that is conveyed by gestures for non‐native compared to native listeners. Our results demonstrate that the degree of language experience impacts overt visual attention to visual articulators, resulting in different visual benefits for native versus non‐native listeners.

Abstract

Listeners are often challenged by adverse listening conditions during language comprehension induced by external factors, such as noise, but also internal factors, such as being a non-native listener. Visible cues, such as semantic information conveyed by iconic gestures, can enhance language comprehension in such situations. Using magnetoencephalography (MEG) we investigated whether spatiotemporal oscillatory dynamics can predict a listener's benefit of iconic gestures during language comprehension in both internally (non-native versus native listeners) and externally (clear/degraded speech) induced adverse listening conditions. Proficient non-native speakers of Dutch were presented with videos in which an actress uttered a degraded or clear verb, accompanied by a gesture or not, and completed a cued-recall task after every video. The behavioral and oscillatory results obtained from non-native listeners were compared to an MEG study where we presented the same stimuli to native listeners (Drijvers et al., 2018a). Non-native listeners demonstrated a similar gestural enhancement effect as native listeners, but overall scored significantly slower on the cued-recall task. In both native and non-native listeners, an alpha/beta power suppression revealed engagement of the extended language network, motor and visual regions during gestural enhancement of degraded speech comprehension, suggesting similar core processes that support unification and lexical access processes. An individual's alpha/beta power modulation predicted the gestural benefit a listener experienced during degraded speech comprehension. Importantly, however, non-native listeners showed less engagement of the mouth area of the primary somatosensory cortex, left insula (beta), LIFG and ATL (alpha) than native listeners, which suggests that non-native listeners might be hindered in processing the degraded phonological cues and coupling them to the semantic information conveyed by the gesture. Native and non-native listeners thus demonstrated similar yet distinct spatiotemporal oscillatory dynamics when recruiting visual cues to disambiguate degraded speech.

Abstract

Research into sound-symbolism has shown that people can
consistently associate certain pseudo-words with certain referents;
for instance, pseudo-words with rounded vowels and
sonorant consonants are linked to round shapes, while pseudowords
with unrounded vowels and obstruents (with a noncontinuous
airflow), are associated with sharp shapes. Such
sound-symbolic associations have been proposed to arise from
cross-modal abstraction processes. Here we assess the link between
sound-symbolism and cross-modal abstraction by testing
dyslexic individuals’ ability to make sound-symbolic associations.
Dyslexic individuals are known to have deficiencies
in cross-modal processing. We find that dyslexic individuals
are impaired in their ability to make sound-symbolic associations
relative to the controls. Our results shed light on the cognitive
underpinnings of sound-symbolism by providing novel
evidence for the role —and disruptability— of cross-modal abstraction
processes in sound-symbolic eects.

Abstract

This paper presents a study of the spontaneous pre-sentential negations
of ten English-speaking children between the ages of 1; 6 and 3; 4 which
supports the hypothesis that child English nonanaphoric pre-sentential
negation is a form of metalinguistic exclamatory sentence negation. A
detailed discourse analysis reveals that children's pre-sentential negatives
like No Nathaniel a king (i) are characteristically echoic, and (it)
typically express objection and rectification, two characteristic functions
of exclamatory negation in adult discourse, e.g. Don't say 'Nathaniel's a
king'! A comparison of children's pre-sentential negations with their
internal predicate negations using not and don't reveals that the two
negative constructions are formally and functionally distinct. I argue
that children's nonanaphoric pre-sentential negatives constitute an
independent, well-formed class of discourse negation. They are not
'primitive' constructions derived from the miscategorization of emphatic
no in adult speech or children's 'inventions'. Nor are they an
early derivational variant of internal sentence negation. Rather, these
negatives reflect young children's competence in using grammatical
negative constructions appropriately in discourse.

Abstract

Previous research revealed remarkable flexibility of native and non-native listeners’ perceptual system, i.e., native and non-native phonetic category boundaries can be quickly recalibrated in the face of ambiguous input.
The present study investigates the limitations of the flexibility of the non-native perceptual system. In two lexically-guided perceptual learning experiments, Dutch listeners were exposed to a short story in English, where either all /l/ or all /ɹ/ sounds were replaced by an ambiguous [l/ɹ] sound. In the first experiment, the story was presented in clean, while in the second experiment, intermittent noise was added to the story, although never on the critical words. Lexically-guided perceptual learning was only observed in the clean condition. It is argued that the introduction of intermittent noise reduced the reliability of the evidence of hearing a particular word, which in turn blocked retuning of the phonetic categories.

Abstract

Este trabalho descreve e fundamenta a ortografia da língua Awetí (Tupí, Alto Xingu/mt), com base na análise da estrutura fonológica e gramatical do Awetí. A ortografia é resultado de um longo trabalho colaborativo entre os três autores, iniciado em 1998. Ela não define apenas um alfabeto (a representação das vogais e das consoantes da língua), mas também aborda a variação interna, ressilabificação, lenição, palatalização e outros processos (morfo‑)fonológicos. Tanto a representação escrita da oclusiva glotal, quanto as consequências ortográficas da harmonia nasal receberam uma atenção especial. Apesar de o acento lexical não ser ortograficamente marcado em Awetí, a grande maioria dos afixos e partículas é abordada considerando o acento e sua interação com morfemas adjacentes, ao mesmo tempo determinando as palavras ortográficas. Finalmente foi estabelecida a ordem alfabética em que dígrafos são tratados como sequências de letras, já a oclusiva glotal ⟨ʼ⟩ é ignorada, facilitando o aprendizado do Awetí. A ortografia tal como descrita aqui tem sido usada por aproximadamente dez anos na escola para a alfabetização em Awetí, com bons resultados obtidos. Acreditamos que vários dos argumentos aqui levantados podem ser produtivamente transferidos para outras línguas com fenômenos semelhantes (a oclusiva glotal como consoante, harmonia nasal, assimilação morfo-fonológica, etc.).

Abstract

This paper presents Advanced Glossing, a proposal for a general glossing format designed for language documentation, and a specific setup for the Shoebox-program that implements Advanced Glossing to a large extent. Advanced Glossing (AG) goes beyond the traditional Interlinear Morphemic Translation, keeping syntactic and morphological information apart from each other in separate glossing tables. AG provides specific lines for different kinds of annotation – phonetic, phonological, orthographical, prosodic, categorial, structural, relational, and semantic, and it allows for gradual and successive, incomplete, and partial filling in case that some information may be irrelevant, unknown or uncertain. The implementation of AG in Shoebox sets up several databases. Each documented text is represented as a file of syntactic glossings. The morphological glossings are kept in a separate database. As an additional feature interaction with lexical databases is possible. The implementation makes use of the interlinearizing automatism provided by Shoebox, thus obtaining the table format for the alignment of lines in cells, and for semi-automatic filling-in of information in glossing tables which has been extracted from databases

Abstract

Digitizing and annotating texts and field recordings Given that several initiatives worldwide currently explore the new field of documentation of endangered languages, the E-MELD project proposes to survey and unite procedures, techniques and results in order to achieve its main goal, ''the formulation and promulgation of best practice in linguistic markup of texts and lexicons''. In this context, this year's workshop deals with the processing of recorded texts. I assume the most valuable contribution I could make to the workshop is to show the procedures and methods used in the Awetí Language Documentation Project. The procedures applied in the Awetí Project are not necessarily representative of all the projects in the DOBES program, and they may very well fall short in several respects of being best practice, but I hope they might provide a good and concrete starting point for comparison, criticism and further discussion. The procedures to be exposed include: * taping with digital devices, * digitizing (preliminarily in the field, later definitely by the TIDEL-team at the Max Planck Institute in Nijmegen), * segmenting and transcribing, using the transcriber computer program, * translating (on paper, or while transcribing), * adding more specific annotation, using the Shoebox program, * converting the annotation to the ELAN-format developed by the TIDEL-team, and doing annotation with ELAN. Focus will be on the different types of annotation. Especially, I will present, justify and discuss Advanced Glossing, a text annotation format developed by H.-H. Lieb and myself designed for language documentation. It will be shown how Advanced Glossing can be applied using the Shoebox program. The Shoebox setup used in the Awetí Project will be shown in greater detail, including lexical databases and semi-automatic interaction between different database types (jumping, interlinearization). ( Freie Universität Berlin and Museu Paraense Emílio Goeldi, with funding from the Volkswagen Foundation.)

Abstract

The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. However, how mutant Kv4.3 affects wild-type Kv4.3 channel functioning remains unknown. We provide evidence that SCA19/22-mutant Kv4.3 exerts a dominant negative effect on the trafficking and surface expression of wild-type Kv4.3 in the absence of its regulatory subunit, KChIP2. Notably, this dominant negative effect can be rescued by the presence of KChIP2. We also found that all SCA19/22-mutant subunits either suppress wild-type Kv4.3 current amplitude or alter channel gating in a dominant manner. Our findings suggest that altered Kv4.3 channel localization and/or functioning resulting from SCA19/22 mutations may lead to Purkinje cell loss, neurodegeneration and ataxia.

Abstract

Traditionally, there have been three standard assumptions made about the Parallelism Effect on VP-ellipsis, namely that the effect is categorical, that it applies asymmetrically and that it is uniquely due to syntactic factors. Based on the results of a series of experiments involving online and offline tasks, it will be argued that the Parallelism Effect is instead noncategorical and interactional. The factors investigated include construction type, conceptual and morpho-syntactic recoverability, finiteness and anaphor type (to test VP-anaphora). The results show that parallelism is gradient rather than categorical, effects both VP-ellipsis and anaphora, and is influenced by both structural and non-structural factors.

Abstract

The Island Melanesia project was initiated to collect data on the little-known Papuan languages of Island Melanesia, and to explore the origins of and relationships between these languages. The project materials from the 2003 field season focus on language related to cultural domains (e.g., material culture) and on targeted grammatical description. Five tasks are included: Proto-Oceanic lexicon, Grammatical questionnaire and lexicon, Kinship questionnaire, Domains of likely pre-Austronesian terminology, and Botanical collection questionnaire.

Abstract

Previous studies have shown that speakers align their speech to each other at multiple linguistic levels. This study investigates whether alignment is mostly the result of priming from the immediately preceding
speech materials, focussing on pitch and articulation rate (AR). Native Dutch speakers completed sentences, first by themselves (pre-test), then in alternation with Confederate 1 (Round 1), with Confederate 2 (Round 2), with Confederate 1 again
(Round 3), and lastly by themselves again (post-test). Results indicate that participants aligned to the confederates and that this alignment lasted during the post-test. The confederates’ directly preceding sentences were not good predictors for the participants’ pitch and AR. Overall, the results indicate that alignment is more of a global effect than a local priming effect.

Abstract

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

Abstract

This article presents a description of two sequences of talk by urban speakers of Lao (a southwestern Tai language spoken in Laos) in which co-speech gesture plays a central role in explanations of kinship relations and terminology. The speakers spontaneously use hand gestures and gaze to spatially diagram relationships that have no inherent spatial structure. The descriptive sections of the article are prefaced by a discussion of the semiotic complexity of illustrative gestures and gesture diagrams. Gestured signals feature iconic, indexical, and symbolic components, usually in combination, as well as using motion and three-dimensional space to convey meaning. Such diagrams show temporal persistence and structural integrity despite having been projected in midair by evanescent signals (i.e., handmovements anddirected gaze). Speakers sometimes need or want to revise these spatial representations without destroying their structural integrity. The need to "edit" gesture diagrams involves such techniques as hold-and-drag, hold-and-work-with-free-hand, reassignment-of-old-chunk-tonew-chunk, and move-body-into-new-space.

Abstract

Words such as what -d'you-call-it raise issues at the heart of the semantics/pragmatics interface. Expressions of this kind are conventionalised and have meanings which, while very general, are explicitly oriented to the interactional nature of the speech context, drawing attention to a speaker's assumption that the listener can figure out what the speaker is referring to. The details of such meanings can account for functional contrast among similar expressions, in a single language as well as cross-linguistically. The English expressions what -d'you-call-it and you-know-what are compared, along with a comparable Lao expression meaning, roughly, ‘that thing’. Proposed definitions of the meanings of these expressions account for their different patterns of use. These definitions include reference to the speech act participants, a point which supports the view that what -d'you-call-it words can be considered deictic. Issues arising from the descriptive section of this paper include the question of how such terms are derived, as well as their degree of conventionality.

Abstract

This task is designed to elicit virtual 3D ‘models’ created in gesture space using iconic and other representational gestures. This task has been piloted with Lao speakers, where two speakers were asked to explain the meaning of terms referring to different kinds of fish trap mechanisms. The task elicited complex performances involving a range of iconic gestures, and with especially interesting use of (a) the ‘model/diagram’ in gesture space as a virtual object, (b) the non-dominant hand as a prosodic/semiotic anchor, (c) a range of different techniques (indexical and iconic) for evoking meaning with the hand, and (d) the use of nearby objects and parts of the body as semiotic ‘props’.

Abstract

The semantics of simple (i.e. two-term) systems of demonstratives have in general hitherto been treated as inherently spatial and as marking a symmetrical opposition of distance (‘proximal’ versus ‘distal’), assuming the speaker as a point of origin. More complex systems are known to add further distinctions, such as visibility or elevation, but are assumed to build on basic distinctions of distance. Despite their inherently context-dependent nature, little previous work has based the analysis of demonstratives on evidence of their use in real interactional situations. In this article, video recordings of spontaneous interaction among speakers of Lao (Southwestern Tai, Laos) are examined in an analysis of the two Lao demonstrative determiners nii4 and nan4. A hypothesis of minimal encoded semantics is tested against rich contextual information, and the hypothesis is shown to be consistent with the data. Encoded conventional meanings must be kept distinct from contingent contextual information and context-dependent pragmatic implicatures. Based on examples of the two Lao demonstrative determiners in exophoric uses, the following claims are made. The term nii4 is a semantically general demonstrative, lacking specification of ANY spatial property (such as location or distance). The term nan4 specifies that the referent is ‘not here’ (encoding ‘location’ but NOT ‘distance’). Anchoring the semantic specification in a deictic primitive ‘here’ allows a strictly discrete intensional distinction to be mapped onto an extensional range of endless elasticity. A common ‘proximal’ spatial interpretation for the semantically more general term nii4 arises from the paradigmatic opposition of the two demonstrative determiners. This kind of analysis suggests a reappraisal of our general understanding of the semantics of demonstrative systems universally. To investigate the question in sufficient detail, however, rich contextual data (preferably collected on video) is necessary

Abstract

Research on video- and audio-recordings of spontaneous naturally-occurring conversation in English has shown that conversation is a rule-guided, practice-oriented domain that can be investigated for its underlying mechanics or structure. Systematic study could yield something like a grammar for conversation. The goal of this task is to acquire a corpus of video-data, for investigating the underlying structure(s) of interaction cross-linguistically and cross-culturally

Abstract

How are language, thought, and reality related? Interdisciplinary research on this question over the past two decades has made significant progress. Most of the work has been Neo-Whorfian in two senses: One, it has been driven by research questions that were articulated most explicitly and most famously by the linguistic anthropologist Benjamin Lee Whorf, and two, it has limited the scope of inquiry to Whorf's narrow interpretations of the key terms “language,” “thought,” and “reality.” This article first reviews some of the ideas and results of Neo-Whorfian work, concentrating on the special role of linguistic categorization in heuristic decision making. It then considers new and potential directions in work on linguistic relativity, taken broadly to mean the ways in which the perspective offered by a given language can affect thought (or mind) and reality. New lines of work must reconsider the idea of linguistic relativity by exploring the range of available interpretations of the key terms: in particular, “language” beyond reference, “thought” beyond nonsocial processing, and “reality” beyond brute, nonsocial facts.

Abstract

We want to know how people think about their field of kin, on the supposition that it is quasi-spatial. To get some insights here, we need to video a discussion about kinship reckoning, the kinship system, marriage rules and so on, with a view to looking at both the linguistic expressions involved, and the gestures people use to indicate kinship groups and relations. Unlike the task in the 2001 manual, this task is a direct interview method.

Abstract

This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Lao language (a Southwestern Tai language spoken in Laos, Thailand, and Cambodia). The article reports findings specific to the Lao language from the comparative project that is the topic of this special issue. While the scope is general to the overall pattern of other-initiated repair as a set of practices and a system of semiotic resources, special attention is given to (1) the range of repair operations that are elicited by open other-initiators of repair in Lao, especially the subtle changes made when problem turns are repeated, and (2) the use of phrase-final particles—a characteristic feature of Lao grammar—in the marking of both other-initiations of repair and repair solution turns

Abstract

This task is a complement to the questionnaire ‘Multimodal interaction in your field site: a preliminary investigation’. The objective of the task is to obtain high quality video data on structured and symmetrical dyadic multimodal interaction. The features of interaction we are interested in include turn organization in speech and nonverbal behavior, eye-gaze behavior, use of composite signals (i.e. communicative units of speech-combined-with-gesture), and linguistic and other resources for ‘navigating’ interaction (e.g. words like okay, now, well, and um).

Abstract

How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.

Abstract

This book argues that the complex, anthropocentric, and often culture-specific meanings of words have been shaped directly by their history of 'utility' for communication in social life. N. J. Enfield draws on semantic and pragmatic case studies from his extensive fieldwork in Laos to investigate a range of semantic fields including emotion terms, culinary terms, landscape terminology, and honorific pronouns, among many others. These studies form the building blocks of a conceptual framework for understanding meaning in language. The book argues that the goals and relevancies of human communication are what bridge the gap between the private representation of language in the mind and its public processes of usage, acquisition, and conventionalization in society. Professor Enfield argues that in order to understand this process, we first need to understand the ways in which linguistic meaning is layered, multiple, anthropocentric, cultural, distributed, and above all, useful. This wide-ranging account brings together several key strands of research across disciplines including semantics, pragmatics, cognitive linguistics, and sociology of language, and provides a rich account of what linguistic meaning is like and why.

Abstract

Over the decades, high-intensity language learners scattered over the globe referred to as “hyperpolyglots” have undertaken a natural experiment into the limits of learning and acquiring proficiencies in multiple languages. This chapter details several ways in which hyperpolyglots are relevant to research on aptitude. First, historical hyperpolyglots Cardinal Giuseppe Mezzofanti, Emil Krebs, Elihu Burritt, and Lomb Kató are described in terms of how they viewed their own exceptional outcomes. Next, I draw on results from an online survey with 390 individuals to explore how contemporary hyperpolyglots consider the explanatory value of aptitude. Third, the challenges involved in studying the genetic basis of hyperpolyglottism (and by extension of language aptitude) are discussed. This mosaic of data is meant to inform the direction of future aptitude research that takes hyperpolyglots, one type of exceptional language learner and user, into account.

Abstract

Among the most fascinating data for phonology are those showing how speakers incorporate new words and foreign words into their language system, since these data provide cues to the actual principles underlying language. In this article, we address how speakers deal with neutralized obstruents in new words. We formulate four hypotheses and test them on the basis of Dutch word-final obstruents, which are neutral for [voice]. Our experiments show that speakers predict the characteristics ofneutralized segments on the basis ofphonologically similar morphemes stored in the mental lexicon. This effect of the similar morphemes can be modeled in several ways. We compare five models, among them STOCHASTIC OPTIMALITY THEORY and ANALOGICAL MODELING OF LANGUAGE; all perform approximately equally well, but they differ in their complexity, with analogical modeling oflanguage providing the most economical explanation.

Abstract

In an auditory lexical decision experiment, 5,541 spoken content words and pseudo-words were presented to 20 native speakers of Dutch. The words vary in phonological makeup and in number of syllables and stress pattern, and are further representative of the native Dutch vocabulary in that most are morphologically complex, comprising two stems or one stem plus derivational and inflectional suffixes, with inflections representing both regular and irregular paradigms; the pseudo-words were matched in these respects to the real words. The BALDEY data file includes response times and accuracy rates, with for each item morphological information plus phonological and acoustic information derived from automatic phonemic segmentation of the stimuli. Two initial analyses illustrate how this data set can be used. First, we discuss several measures of the point at which a word has no further neighbors, and compare the degree to which each measure predicts our lexical decision response outcomes. Second, we investigate how well four different measures of frequency of occurrence (from written corpora, spoken corpora, subtitles and frequency ratings by 70 participants) predict the same outcomes. These analyses motivate general conclusions about the auditory lexical decision task. The (publicly available) BALDEY database lends itself to many further analyses.

Abstract

This article presents two studies investigating how the situation in which speech is uttered affects the frequency with which words are reduced. Study 1 is based on the Spoken Dutch Corpus, which consists of 15 components, nearly all representing a different speech situation. This study shows that the components differ in how often ten semantically weak words are highly reduced. The differences are especially large between the components with scripted and unscripted speech. Within the component group of unscripted speech, the formality of the situation shows an effect. Study 2 investigated segment reduction in a shadowing experiment in which participants repeated Dutch carefully and casually articulated sentences. Prefixal schwa and suffixal /t/ were absent in participants' responses to both sentences types as often as in formal interviews. If a segment was absent, this appeared to be mostly due to extreme co-articulation, unlike in speech produced in less formal situations. Speakers thus adapted more to the formal situation of the experiment than to the stimuli to be shadowed. We conclude that speech situation affects the occurrence of reduced word pronunciation variants, which should be accounted for by psycholinguistic models of speech production and comprehension

Abstract

The larynx is the essential articulatory mechanism that primes the vocal tract. Far from being only a glottal source of voicing, the complex laryngeal mechanism entrains the ontogenetic acquisition of speech and, through coarticulatory coupling, guides the production of oral sounds in the infant vocal tract. As such, it is not possible to speculate as to the origins of the speaking modality in humans without considering the fundamental role played by the laryngeal articulatory mechanism. The Laryngeal Articulator Model, which divides the vocal tract into a laryngeal component and an oral component, serves as a basis for describing early infant speech and for positing how speech sounds evolving in various hominids may be related phonetically. To this end, we offer some suggestions for how the evolution and development of vocal tract anatomy fit with our infant speech acquisition data and discuss the implications this has for explaining phonetic learning and for interpreting the biological evolution of the human vocal tract in relation to speech and speech acquisition.

Abstract

We summarize a number of findings in laryngology demonstrating that perturbations of phonation, including increased jitter and shimmer, are associated with desiccated ambient air. We predict that, given the relative imprecision of vocal fold vibration in desiccated versus humid contexts, arid and cold ecologies should be less amenable, when contrasted to warm and humid ecologies, to the development of languages with phonemic tone, especially complex tone. This prediction is supported by data from two large independently coded databases representing 3,700+ languages. Languages with complex tonality have generally not developed in very cold or otherwise desiccated climates, in accordance with the physiologically based predictions. The predicted global geographic–linguistic association is shown to operate within continents, within major language families, and across language isolates. Our results offer evidence that human sound systems are influenced by environmental factors.

Abstract

The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.

Abstract

Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels

Abstract

This paper shows that the dictation task, a well-
known testing instrument in language education, has
untapped potential as a research tool for studying
speech perception. We describe how transcriptions
can be scored on measures of lexical, orthographic,
phonological, and semantic similarity to target
phrases to provide comprehensive information about
accuracy at different processing levels. The former
three measures are automatically extractable,
increasing objectivity, and the middle two are
gradient, providing finer-grained information than
traditionally used. We evaluate the measures in an
English dictation task featuring phonetically reduced
continuous speech. Whereas the lexical and
orthographic measures emphasize listeners’ word
identification difficulties, the phonological measure
demonstrates that listeners can often still recover
phonological features, and the semantic measure
captures their ability to get the gist of the utterances.
Correlational analyses and a discussion of practical
and theoretical considerations show that combining
multiple measures improves the dictation task’s
utility as a research tool.

Abstract

Lexically guided perceptual learning has traditionally been studied with ambiguous consonant sounds to which native listeners are exposed in a purely receptive listening context. To extend previous research, we investigate whether lexically guided learning applies to a vowel shift encountered by non-native listeners in an interactive dialogue. Dutch participants played a two-player game in English in either a control condition, which contained no evidence for a vowel shift, or a lexically constraining condition, in which onscreen lexical information required them to re-interpret their interlocutor’s /ɪ/ pronunciations as representing /ε/. A phonetic categorization pre-test and post-test were used to assess whether the game shifted listeners’ phonemic boundaries such that more of the /ε/-/ɪ/ continuum came to be perceived as /ε/. Both listener groups showed an overall post-test shift toward /ɪ/, suggesting that vowel perception may be sensitive to directional biases related to properties of the speaker’s vowel space. Importantly, listeners in the lexically constraining condition made relatively more post-test /ε/ responses than the control group, thereby exhibiting an effect of lexically guided adaptation. The results thus demonstrate that non-native listeners can adjust their phonemic boundaries on the basis of lexical information to accommodate a vowel shift learned in interactive conversation.

Abstract

When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.

Abstract

This study investigates the way adult second language (L2) learners of English resolve relative clause attachment ambiguities in sentences such as The dean liked the secretary of the professor who was reading a letter. Two groups of advanced L2 learners of English with Greek or German as their first language participated in a set of off-line and on-line tasks. The results indicate that the L2 learners do not process ambiguous sentences of this type in the same way as adult native speakers of English do. Although the learners’ disambiguation preferences were influenced by lexical–semantic properties of the preposition linking the two potential antecedent noun phrases (of vs. with), there was no evidence that they applied any phrase structure–based ambiguity resolution strategies of the kind that have been claimed to influence sentence processing in monolingual adults. The L2 learners’ performance also differs markedly from the results obtained from 6- to 7-year-old monolingual English children in a parallel auditory study, in that the children’s attachment preferences were not affected by the type of preposition at all. We argue that children, monolingual adults, and adult L2 learners differ in the extent to which they are guided by phrase structure and lexical–semantic information during sentence processing.

Abstract

A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

Abstract

The aim of the present work is to identify the evolutionary origins of the ability to speak and understand a natural language. I will adopt Botha’s “Windows Approach” (Language and Communication, 2006, 26, pp. 129–143) in order to justify the following two assumptions, which concern the evolutionary continuity between human language and animals’ communication systems: (a) despite the uniqueness of human language in sharing and conveying utterances with an open-ended structure, some isolated components of our linguistic competence are shared with non- human primates, grounding a line of evolutionary continuity; (b) the very first “linguistic” utterances were holistic, that is, whole bunches of sounds able to convey information despite their lack of modern syntax. I will address such suppositions through the comparative analysis of three constitutive features of human language: syntax, the semantic value of utterances, and the ability to attribute mental states to conspecifics, i.e. the theory of mind.

Abstract

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.

Abstract

A significant number of individuals have unexplained difficulties with acquiring normal speech and language, despite adequate intelligence and environmental stimulation. Although developmental disorders of speech and language are heritable, the genetic basis is likely to involve several, possibly many, different risk factors. Investigations of a unique three-generation family showing monogenic inheritance of speech and language deficits led to the isolation of the first such gene on chromosome 7, which encodes a transcription factor known as FOXP2. Disruption of this gene causes a rare severe speech and language disorder but does not appear to be involved in more common forms of language impairment. Recent genome-wide scans have identified at least four chromosomal regions that may harbor genes influencing the latter, on chromosomes 2, 13, 16, and 19. The molecular genetic approach has potential for dissecting neurological pathways underlying speech and language disorders, but such investigations are only just beginning.

Abstract

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

Abstract

Theories addressing the biological basis of language must be built on
an appreciation of the ways that molecular and neurobiological substrates
can contribute to aspects of human cognition. Here, we lay out
the principles by which a genome could potentially encode the necessary
information to produce a language-ready brain. We describe
what genes are; how they are regulated; and how they affect the formation,
function, and plasticity of neuronal circuits. At each step,
we give examples of molecules implicated in pathways that are important
for speech and language. Finally, we discuss technological advances
in genomics that are revealing considerable genotypic variation in
the human population, from rare mutations to common polymorphisms,
with the potential to relate this variation to natural variability
in speech and language skills. Moving forward, an interdisciplinary
approach to the language sciences, integrating genetics, neurobiology,
psychology, and linguistics, will be essential for a complete understanding
of our unique human capacities.

Abstract

FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.