A preliminary study of copy number variation in Tibetans.

Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139...

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Autores principales:	Yong-Biao Zhang, Xin Li, Feng Zhang, Duen-Mei Wang, Jun Yu
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/45f5656464e34d6ba4adbbac79a9817b
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spelling	oai:doaj.org-article:45f5656464e34d6ba4adbbac79a9817b2021-11-18T07:11:28ZA preliminary study of copy number variation in Tibetans.1932-620310.1371/journal.pone.0041768https://doaj.org/article/45f5656464e34d6ba4adbbac79a9817b2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22844521/?tool=EBIhttps://doaj.org/toc/1932-6203Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139 putative copy number variable regions (CNVRs), consisting of 70 deletions, 61 duplications, and 8 multi-allelic loci. Thirty-four of the 139 CNVRs showed differential allele frequencies versus other East-Asian populations, with P values <0.0001. These results indicated a distinct pattern of CNVR allele frequency distribution in Tibetans. The Tibetan CNVRs are enriched for genes in the disease class of human reproduction (such as genes from the DAZ, BPY2, CDY, and HLA-DQ and -DR gene clusters) and biological process categories of "response to DNA damage stimulus" and "DNA repair" (such as RAD51, RAD52, and MRE11A). These genes are related to the adaptive traits of high infant birth weight and darker skin tone of Tibetans, and may be attributed to recent local adaptation. Our results provide a different view of genetic diversity in Tibetans and new insights into their high-altitude adaptation.Yong-Biao ZhangXin LiFeng ZhangDuen-Mei WangJun YuPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 7, p e41768 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Yong-Biao Zhang Xin Li Feng Zhang Duen-Mei Wang Jun Yu A preliminary study of copy number variation in Tibetans.
description	Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139 putative copy number variable regions (CNVRs), consisting of 70 deletions, 61 duplications, and 8 multi-allelic loci. Thirty-four of the 139 CNVRs showed differential allele frequencies versus other East-Asian populations, with P values <0.0001. These results indicated a distinct pattern of CNVR allele frequency distribution in Tibetans. The Tibetan CNVRs are enriched for genes in the disease class of human reproduction (such as genes from the DAZ, BPY2, CDY, and HLA-DQ and -DR gene clusters) and biological process categories of "response to DNA damage stimulus" and "DNA repair" (such as RAD51, RAD52, and MRE11A). These genes are related to the adaptive traits of high infant birth weight and darker skin tone of Tibetans, and may be attributed to recent local adaptation. Our results provide a different view of genetic diversity in Tibetans and new insights into their high-altitude adaptation.
format	article
author	Yong-Biao Zhang Xin Li Feng Zhang Duen-Mei Wang Jun Yu
author_facet	Yong-Biao Zhang Xin Li Feng Zhang Duen-Mei Wang Jun Yu
author_sort	Yong-Biao Zhang
title	A preliminary study of copy number variation in Tibetans.
title_short	A preliminary study of copy number variation in Tibetans.
title_full	A preliminary study of copy number variation in Tibetans.
title_fullStr	A preliminary study of copy number variation in Tibetans.
title_full_unstemmed	A preliminary study of copy number variation in Tibetans.
title_sort	preliminary study of copy number variation in tibetans.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/45f5656464e34d6ba4adbbac79a9817b
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A preliminary study of copy number variation in Tibetans.

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