Suppr超能文献

基因组多样性的全球分布突显了各大陆人类群体丰富复杂的历史。

Global distribution of genomic diversity underscores rich complex history of continental human populations.

作者信息

Auton Adam, Bryc Katarzyna, Boyko Adam R, Lohmueller Kirk E, Novembre John, Reynolds Andy, Indap Amit, Wright Mark H, Degenhardt Jeremiah D, Gutenkunst Ryan N, King Karen S, Nelson Matthew R, Bustamante Carlos D

机构信息

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853-2601, USA.

出版信息

Genome Res. 2009 May;19(5):795-803. doi: 10.1101/gr.088898.108. Epub 2009 Feb 13.

Abstract

Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.

摘要

描绘人类群体内部和群体之间的遗传变异模式,对于理解人类进化史以及精心设计医学遗传学研究都非常重要。在此,我们分析了来自四个大陆地区的3845名个体中443,434个单核苷酸多态性(SNP)的变异模式。这一独特资源使我们能够在全基因组范围内阐明此前研究较少的群体的多样性模式,这些群体包括拉丁美洲、南亚和南欧。我们的分析提供的关键见解包括:量化来自墨西哥瓜达拉哈拉的大量个体中的混合程度;确定语言和地理是印度境内群体结构的关键决定因素;阐明欧洲单倍型多样性的南北梯度。我们还提出了一种识别指示近期共同祖先的纯合长片段的新方法。我们方法的应用表明,群体内部和群体之间在纯合程度上存在很大差异,这表明人口历史(如群体瓶颈)和近期祖先事件(如近亲结婚)在塑造现代大型人类群体的变异模式中都起着重要作用。

相似文献

1
Global distribution of genomic diversity underscores rich complex history of continental human populations.
Genome Res. 2009 May;19(5):795-803. doi: 10.1101/gr.088898.108. Epub 2009 Feb 13.
2
The influence of admixture and consanguinity on population genetic diversity in Middle East.
J Hum Genet. 2014 Nov;59(11):615-22. doi: 10.1038/jhg.2014.81. Epub 2014 Sep 25.
3
Population structure and genome-wide patterns of variation in Ireland and Britain.
Eur J Hum Genet. 2010 Nov;18(11):1248-54. doi: 10.1038/ejhg.2010.87. Epub 2010 Jun 23.
4
Natural positive selection and north-south genetic diversity in East Asia.
Eur J Hum Genet. 2012 Jan;20(1):102-10. doi: 10.1038/ejhg.2011.139. Epub 2011 Jul 27.
6
Genomic Insights into the Ancestry and Demographic History of South America.
PLoS Genet. 2015 Dec 4;11(12):e1005602. doi: 10.1371/journal.pgen.1005602. eCollection 2015 Dec.
7
Genetic ancestry, admixture and health determinants in Latin America.
BMC Genomics. 2018 Dec 11;19(Suppl 8):861. doi: 10.1186/s12864-018-5195-7.
8
Recombination networks as genetic markers in a human variation study of the Old World.
Hum Genet. 2012 Apr;131(4):601-13. doi: 10.1007/s00439-011-1104-8. Epub 2011 Oct 18.
9
Genomic patterns of homozygosity in worldwide human populations.
Am J Hum Genet. 2012 Aug 10;91(2):275-92. doi: 10.1016/j.ajhg.2012.06.014.
10
Genomic runs of homozygosity record population history and consanguinity.
PLoS One. 2010 Nov 15;5(11):e13996. doi: 10.1371/journal.pone.0013996.

引用本文的文献

1
A genomic tale of inbreeding in western Mediterranean human populations.
Hum Genet. 2025 May 10. doi: 10.1007/s00439-025-02747-9.
2
Causal interpretations of family GWAS in the presence of heterogeneous effects.
Proc Natl Acad Sci U S A. 2024 Sep 17;121(38):e2401379121. doi: 10.1073/pnas.2401379121. Epub 2024 Sep 13.
3
Causal interpretations of family GWAS in the presence of heterogeneous effects.
bioRxiv. 2023 Nov 16:2023.11.13.566950. doi: 10.1101/2023.11.13.566950.
5
Haplotyping-Assisted Diploid Assembly and Variant Detection with Linked Reads.
Methods Mol Biol. 2023;2590:161-182. doi: 10.1007/978-1-0716-2819-5_11.
8
Genomic consequences of a century of inbreeding and isolation in the Danish wild boar population.
Evol Appl. 2022 May 17;15(6):954-966. doi: 10.1111/eva.13385. eCollection 2022 Jun.

本文引用的文献

1
The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research.
Am J Hum Genet. 2008 Sep;83(3):347-58. doi: 10.1016/j.ajhg.2008.08.005. Epub 2008 Aug 28.
2
Genes mirror geography within Europe.
Nature. 2008 Nov 6;456(7218):98-101. doi: 10.1038/nature07331. Epub 2008 Aug 31.
3
Genetic landscape of the people of India: a canvas for disease gene exploration.
J Genet. 2008 Apr;87(1):3-20. doi: 10.1007/s12041-008-0002-x.
4
Inferring human colonization history using a copying model.
PLoS Genet. 2008 May 23;4(5):e1000078. doi: 10.1371/journal.pgen.1000078.
5
Mapping and sequencing of structural variation from eight human genomes.
Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.
6
Geographic patterns of genome admixture in Latin American Mestizos.
PLoS Genet. 2008 Mar 21;4(3):e1000037. doi: 10.1371/journal.pgen.1000037.
7
Worldwide human relationships inferred from genome-wide patterns of variation.
Science. 2008 Feb 22;319(5866):1100-4. doi: 10.1126/science.1153717.
8
Genotype, haplotype and copy-number variation in worldwide human populations.
Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742.
9
High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.
Science. 2008 Mar 7;319(5868):1395-8. doi: 10.1126/science.1151851. Epub 2008 Jan 31.
10
Genome-wide detection and characterization of positive selection in human populations.
Nature. 2007 Oct 18;449(7164):913-8. doi: 10.1038/nature06250.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验