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Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders
Author(s) -
Jones Julie R.,
Skinner Cindy,
Friez Michael J.,
Schwartz Charles E.,
Stevenson Roger E.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32396
Subject(s) - gene silencing , gene , autism , cpg site , genetics , dna methylation , methylation , biology , x chromosome , chromosome , psychology , gene expression , psychiatry
The hypothesis is set forth that dysregulation of brain‐expressed genes on the X chromosome constitutes the major predisposition to autism spectrum disorders (ASDs). This dysregulation, mediated by hypomethylation or hypermethylation of CpG sites within gene promoters, leads to overexpression or partial silencing of one or more brain‐expressed genes, which in turn results in an unbalanced production of the proteins responsible for brain structure and function. This hypothesis accommodates the predominantly sporadic occurrence (95%), the male excess (4:1), and the usual absence of malformations or other syndromic manifestations in ASDs. © 2008 Wiley‐Liss, Inc.