ArticlePloS one2012
A preliminary study of copy number variation in Tibetans.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Cerebrospinal fluid oligoclonal bands in Chinese patients with multiple sclerosis: the prevalence and its association with clinical features.Frontiers in immunology · 2023Article
- Why is the beautyberry so colourful? Evolution, biogeography, and diversification of fruit colours inPlant diversity · 2023Article
- A study of normal copy number variations in Israeli population.Human genetics · 2021Article
- Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.Molecular genetics & genomic medicine · 2020Article
- Population Structure, and Selection Signatures Underlying High-Altitude Adaptation Inferred From Genome-Wide Copy Number Variations in Chinese Indigenous Cattle.Frontiers in genetics · 2019Article
- High-altitude adaptation in humans: from genomics to integrative physiology.Journal of molecular medicine (Berlin, Germany) · 2017Review
- Genome-wide identification of genes probably relevant to the adaptation of schizothoracins (Teleostei: Cypriniformes) to the uplift of the Qinghai-Tibet Plateau.BMC genomics · 2017Article
- Identifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach.The Indian journal of medical research · 2017Article
- Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations.European journal of human genetics : EJHG · 2016Article
- Fifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complication.Molecular ecology · 2016Review
- Copy number variations in the genome of the Qatari population.BMC genomics · 2015Article
- Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Genetics research · 2015Article
- Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes.PloS one · 2015Article
- Identification of independent primary tumors and intrapulmonary metastases using DNA rearrangements in non-small-cell lung cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2014Article
- Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays.Genetics research · 2014Article
- Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans.Scientific reports · 2014Article
- Compilation of copy number variants identified in phenotypically normal and parous Japanese women.Journal of human genetics · 2014Article
- Insertion-deletions burden in copy number polymorphisms of the Tibetan population.Indian journal of human genetics · 2014Article
- Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.PloS one · 2014Article
- Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.PloS one · 2014Article
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Authors and funding
5 authors.
Funding
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Abstract
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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