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遗传视角下的语言功能元素解析。

Genetic insights into the functional elements of language.

机构信息

Theoretical Linguistics Program, Eotvos Lorand University, Budapest, Hungary.

出版信息

Hum Genet. 2013 Sep;132(9):959-86. doi: 10.1007/s00439-013-1317-0. Epub 2013 Jun 8.

Abstract

Language disorders cover a wide range of conditions with heterologous and overlapping phenotypes and complex etiologies harboring both genetic and environmental influences. Genetic approaches including the identification of genes linked to speech and language phenotypes and the characterization of normal and aberrant functions of these genes have, in recent years, unraveled complex details of molecular and cognitive mechanisms and provided valuable insight into the biological foundations of language. Consistent with this approach, we have reviewed the functional aspects of allelic variants of genes which are currently known to be either causally associated with disorders of speech and language or impact upon the spectrum of normal language ability. We have also reviewed candidate genes associated with heritable speech and language disorders. In addition, we have evaluated language phenotypes and associated genetic components in developmental syndromes that, together with a spectrum of altered language abilities, manifest various phenotypes and offer details of multifactorial determinants of language function. Data from this review have revealed a predominance of regulatory networks involved in the control of differentiation and functioning of neurons, neuronal tracks and connections among brain structures associated with both cognitive and language faculties. Our findings, furthermore, have highlighted several multifactorial determinants in overlapping speech and language phenotypes. Collectively this analysis has revealed an interconnected developmental network and a close association of the language faculty with cognitive functions, a finding that has the potential to provide insight into linguistic hypotheses defining in particular, the contribution of genetic elements to and the modular nature of the language faculty.

摘要

语言障碍涵盖了广泛的病症,具有异质和重叠的表型和复杂的病因,既有遗传因素也有环境因素的影响。遗传方法包括鉴定与言语和语言表型相关的基因,以及这些基因的正常和异常功能的特征,近年来,已经揭示了分子和认知机制的复杂细节,并为语言的生物学基础提供了有价值的见解。基于这一方法,我们回顾了目前已知与言语和语言障碍相关的基因等位变体的功能方面,或对正常语言能力范围有影响的基因。我们还回顾了与遗传性言语和语言障碍相关的候选基因。此外,我们评估了发育综合征中的语言表型和相关遗传成分,这些综合征与一系列改变的语言能力一起,表现出各种表型,并提供了语言功能的多因素决定因素的详细信息。这项综述的数据揭示了与神经元、神经元轨迹和大脑结构之间的连接的分化和功能控制相关的调节网络占主导地位,这些网络与认知和语言能力都有关。此外,我们的发现强调了在重叠的言语和语言表型中存在几个多因素决定因素。总的来说,这种分析揭示了一个相互关联的发育网络和语言能力与认知功能的密切关联,这一发现有可能为语言假设提供深入的了解,特别是遗传因素对语言能力的贡献以及语言能力的模块性质。

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