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Synaptic, transcriptional and chromatin genes disrupted in autism.

Abstract：

:The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.

journal_name

Nature

journal_title

Nature

authors

De Rubeis S,He X,Goldberg AP,Poultney CS,Samocha K,Cicek AE,Kou Y,Liu L,Fromer M,Walker S,Singh T,Klei L,Kosmicki J,Shih-Chen F,Aleksic B,Biscaldi M,Bolton PF,Brownfeld JM,Cai J,Campbell NG,Carracedo A,Chahrour

doi

10.1038/nature13772

subject

Has Abstract

pub_date

2014-11-13 00:00:00

pages

209-15

issue

7526

eissn

0028-0836

issn

1476-4687

pii

nature13772

journal_volume

515

pub_type

杂志文章

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