Defining the genetic architecture of human developmental language impairment.
Defining the genetic architecture of human developmental language impairment.
复制标题
DOI：
10.1016/j.lfs.2012.01.016
复制
发表时间：
2012-04-09
期刊：
影响因子：
6.1
通讯作者：
Bartlett, Christopher W.
中科院分区：
文献类型：
--
作者：
Li, Ning;Bartlett, Christopher W.
语言是人类独有的特征，这对发现生物底物和途径的动物模型构成了限制。尽管存在这一挑战，但基因组学领域的快速发展使人类遗传学研究成为定义人类语言的分子神经科学的一条可行的替代途径。这是通过研究在几代人之间传递正常和紊乱语言的家庭来实现的。这里回顾的语言障碍是特殊语言障碍(SLI)，这是一种语言习得的发育缺陷，尽管有足够的机会，智力正常，没有任何明显的神经病因。在这里，我们描述了应用于SLI家族的疾病基因发现范例，并回顾了该领域所取得的进展。在回顾了遗传因素影响SLI的证据之后，我们讨论了人类染色体扫描的方法和结果，包括13，16和19号染色体上的主要复制区和两个已识别的基因ATP2C2和CMIP，它们似乎解释了16号染色体上的语言变异。此外，还对候选基因进行了研究，即预先选择的基因而不是通过基因组扫描的研究，包括对CNTNAP2的几项研究，以及最近的一些工作，即BDNF是13号染色体上影响语言的遗传变异的基因×基因交互伙伴。这些最新的发展可能允许更好地利用死后人脑样本、功能研究和动物模型来研究受限的语言亚成分。在未来，与语言表型相关的遗传变异的识别将为理解人类语言提供分子途径。
Language is a uniquely human trait, which poses limitations on animal models for discovering biological substrates and pathways. Despite this challenge, rapidly developing biotechnology in the field of genomics has made human genetics studies a viable alternative route for defining the molecular neuroscience of human language. This is accomplished by studying families that transmit both normal and disordered language across generations. The language disorder reviewed here is specific language impairment (SLI), a developmental deficiency in language acquisition despite adequate opportunity, normal intelligence, and without any apparent neurological etiology. Here, we describe disease gene discovery paradigms as applied to SLI families and review the progress this field has made. After review the evidence that genetic factors influence SLI, we discuss methods and findings from scans of the human chromosomes, including the main replicated regions on chromosomes 13, 16 and 19 and two identified genes, ATP2C2 and CMIP that appear to account for the language variation on chromosome 16. Additional work has been done on candidate genes, i.e., genes chosen a priori and not through a genome scanning studies, including several studies of CNTNAP2 and some recent work implicating BDNF as a gene × gene interaction partner of genetic variation on chromosome 13 that influences language. These recent developments may allow for better use of post-mortem human brain samples functional studies and animal models for circumscribed language subcomponents. In the future, the identification of genetic variation associated with language phenotypes will provide the molecular pathways to understanding human language.
登录
查看更多内容
影响因子：
2.7
作者：
Komulainen, Pirjo;Pedersen, Maria;Rauramaa, Rainer
通讯作者：
Rauramaa, Rainer
影响因子：
1.7
作者：
Baddeley, A
通讯作者：
Baddeley, A
DOI：
10.1044/1092-4388(2002/093
发表时间：
2002-12-01
影响因子：
2.6
作者：
Catts, HW;Fey, ME;Zhang, XY
通讯作者：
Zhang, XY
影响因子：
5.3
作者：
Hariri, AR;Goldberg, TE;Weinberger, DR
通讯作者：
Weinberger, DR
影响因子：
9.8
作者：
Arking, Dan E.;Cutler, David J.;Chakravarti, Aravinda
通讯作者：
Chakravarti, Aravinda