北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学精神卫生研究所  > 期刊论文
学科主题: 精神卫生
题名:
Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism
作者: Wang, Lifang1,2; Li, Jun1,2; Ruan, Yanyan1,2; Lu, Tianlan1,2; Liu, Chenxing1,2; Jia, Meixiang1; Yue, Weihua1,2; Liu, Jing1; Bourgeron, Thomas4,5; Zhang, Dai1,2,3
刊名: PLOS ONE
发表日期: 2013-01-17
DOI: 10.1371/journal.pone.0053727
卷: 8, 期:1
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: DE-NOVO MUTATIONS ; SPECTRUM DISORDERS ; MELATONIN SYNTHESIS ; PROTEIN FUNCTION ; MOOD DISORDERS ; GENE ; PATHWAY ; ASSOCIATION ; CHILDREN ; INSOMNIA
英文摘要:

Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation (p.R115W, p.V166I, p.V179G, and p.W257X). These four coding variants were observed in 6 of 398 (1.51%) patients with autism and none in 437 controls (Chi-Square test, Continuity Correction p = 0.032, two-sided). Functional prediction of impact of amino acid showed that p.R115W might affect protein function. These results indicate that ASMT might be a susceptibility gene for autism. Further studies in larger samples are needed to better understand the degree of variation in this gene as well as to understand the biochemical and clinical impacts of ASMT/melatonin deficiency.

语种: 英语
所属项目编号: 2010CB833905 ; 30870897 ; 81071110 ; 7081005
项目资助者: National Basic Research Development Program of China (973 program) ; National Natural Science Foundation ; Beijing Natural Science Foundation
WOS记录号: WOS:000313738900018
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59768
Appears in Collections:北京大学精神卫生研究所_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China
2.Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China
3.Univ Paris Diderot, Paris, France
4.Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China
5.Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France

Recommended Citation:
Wang, Lifang,Li, Jun,Ruan, Yanyan,et al. Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism[J]. PLOS ONE,2013,8(1).
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Wang, Lifang]'s Articles
[Li, Jun]'s Articles
[Ruan, Yanyan]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Wang, Lifang]‘s Articles
[Li, Jun]‘s Articles
[Ruan, Yanyan]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace