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Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism
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
2013-01-17
DOI10.1371/journal.pone.0053727
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
WOS记录号WOS:000313738900018
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被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59768
专题北京大学精神卫生研究所
北京大学第一临床医学院_妇产科
北京大学精神卫生研究所_精神科
北京大学精神卫生研究所_生化室
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
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GB/T 7714
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).
APA Wang, Lifang.,Li, Jun.,Ruan, Yanyan.,Lu, Tianlan.,Liu, Chenxing.,...&Zhang, Dai.(2013).Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism.PLOS ONE,8(1).
MLA Wang, Lifang,et al."Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism".PLOS ONE 8.1(2013).
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