Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California, San Francisco (UCSF), 1550 4th Street, San Francisco, CA 94158, USA.
Trends Genet. 2013 Oct;29(10):600-8. doi: 10.1016/j.tig.2013.08.001. Epub 2013 Sep 2.
The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological diseases, including autism, and has been implicated as an important gene in human-specific evolution. Recent functional analysis of this gene has revealed a potential role in neuronal development. Here, we review the literature regarding AUTS2, including its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways. Through progress in clinical genomic analysis, the medical importance of this gene is becoming more apparent, as highlighted in this review, but more work needs to be done to discover the precise function and the genetic pathways associated with AUTS2.
自闭症易感性候选基因 2 (AUTS2) 与多种神经疾病有关，包括自闭症，并且被认为是人类特有的进化中的一个重要基因。最近对该基因的功能分析揭示了其在神经元发育中的潜在作用。在这里，我们回顾了有关 AUTS2 的文献，包括其发现、表达、与自闭症和其他神经和非神经特征的关联、在人类进化中的意义、功能、调控以及遗传途径。通过临床基因组分析的进展，该基因的医学重要性变得越来越明显，正如本文所述，但仍需要做更多的工作来发现 AUTS2 的确切功能和相关的遗传途径。
