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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: Zhang, Yong-Biao, Li, Xin, Zhang, Feng, Wang, Duen-Mei, Yu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402393/
https://www.ncbi.nlm.nih.gov/pubmed/22844521
http://dx.doi.org/10.1371/journal.pone.0041768
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author Zhang, Yong-Biao
Li, Xin
Zhang, Feng
Wang, Duen-Mei
Yu, Jun
author_facet Zhang, Yong-Biao
Li, Xin
Zhang, Feng
Wang, Duen-Mei
Yu, Jun
author_sort Zhang, Yong-Biao
collection PubMed
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.
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spelling pubmed-34023932012-07-27 A Preliminary Study of Copy Number Variation in Tibetans Zhang, Yong-Biao Li, Xin Zhang, Feng Wang, Duen-Mei Yu, Jun PLoS One Research Article 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. Public Library of Science 2012-07-23 /pmc/articles/PMC3402393/ /pubmed/22844521 http://dx.doi.org/10.1371/journal.pone.0041768 Text en Zhang et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Zhang, Yong-Biao
Li, Xin
Zhang, Feng
Wang, Duen-Mei
Yu, Jun
A Preliminary Study of Copy Number Variation in Tibetans
title 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_short A Preliminary Study of Copy Number Variation in Tibetans
title_sort preliminary study of copy number variation in tibetans
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402393/
https://www.ncbi.nlm.nih.gov/pubmed/22844521
http://dx.doi.org/10.1371/journal.pone.0041768
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