HUMAN DNA POLYMORPHISM AND EVOLUTION

人类 DNA 多态性和进化

• 批准号: 6342941
• 负责人: WEN-HSIUNG LI
• 金额: $ 29.1万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-01-01 至 2002-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6342941
• 关键词: DNA; Internet; autosome; computer assisted sequence analysis; computer program /software; gene expression; genetic polymorphism; genetic recombination; genome; human genetic material tag; human population genetics; human population growth; human population study; human subject; mathematical model; model design /development; natural selections; nucleic acid structure; nucleotides; polymerase chain reaction; sequence tagged sites

This project has 3 goals. 1. To study the levels of DNA polymor-phism in various human populations over the world, providing a genome- and world-wide picture. The major aim of the first grant period is to obtain a reliable estimate of nucleotide diversity under selective neutrality by using noncoding sequences; such an estimate has a tremendous reference value, e.g., it can serve as a standard for comparing the levels of nucleotide diversity from other parts of the genome. 2. To resolve the long-standing controversy over the origin and evolution of modern humans. The prevailing view, the "complete replacement" or "Out of Africa" model, postulates an African origin for modern humans and a rapid, complete replacement of indigenous populations in all other regions of the world by the African stock. The opposite view, the "multiregional evolution" model, postulates a gradual, simultaneous transformation of archaic regional human populations into modern ones by gene flow and natural selection. The former view implies that non-African archaic humans contributed nothing or little to the current human gene pool whereas the latter view predicts a genetic continuity in at least some parts of the world. To achieve these two goals, we propose to sequence (a) 250 sequence tagged site (STSs) of 300 bp or longer (single copy sequences) and (b) 10 noncoding regions (each about 10 kb long) in various populations over the world. 3. To develop statistical methods for analyzing DNA polymorphism data, especially for resolving the above controversy and for studying human evolution and population structure in general. We shall consider the effects of recombination, population subdivision, population growth and natural selection, most of which have not been considered in current methods. The new methods and some existing methods will used to analyze the data to be obtained. The new methods will be accessible on the World Wide Web.

这个项目有三个目标。 1.研究DNA多态性水平 在世界各地的不同人群中，提供一个基因组， 世界范围的图片。 第一个资助期的主要目的是 在选择性条件下获得核苷酸多样性的可靠估计 中性通过使用非编码序列;这样的估计有一个 巨大的参考价值，例如，它可以作为一个标准， 比较来自其他部分的核苷酸多样性水平， 基因组 2.为了解决长期存在的关于起源和 现代人类的进化。 普遍的观点是，“全面 替代”或“走出非洲”模式，假定非洲起源， 现代人类和快速，完全取代土著 世界其他地区的非洲种群数量。 相反的观点，“多区域进化”模型，假设 古老的区域人类逐渐的、同时的转变 通过基因流动和自然选择将人类进化为现代人类。 的 前一种观点认为，非非洲的古人类没有贡献什么 或者说与目前的人类基因库几乎没有关系， 至少在世界的某些地区有遗传连续性。 到 实现这两个目标，我们建议测序（a）250个序列标记 300 bp或更长的位点（STS）（单拷贝序列）和（B）10 非编码区（每个约10 kb长）在各种人群超过 世界 3.开发DNA分析的统计方法 多态性数据，特别是解决上述争议， 用于研究人类进化和总体人口结构。 我们 应考虑重组，人口细分， 人口增长和自然选择，其中大部分还没有 考虑到目前的方法。 新的方法和现有的一些方法 方法将用于分析所获得的数据。 新方法 可以在万维网上看到。

项目成果

Larger genetic differences within africans than between Africans and Eurasians.

非洲人之间的基因差异比非洲人和欧亚人之间的基因差异更大。

• DOI: 10.1093/genetics/161.1.269
• 发表时间: 2002
• 期刊: Genetics
• 影响因子: 3.3
• 作者: Yu,Ning;Chen,Feng-Chi;Ota,Satoshi;Jorde,LynnB;Pamilo,Pekka;Patthy,Laszlo;Ramsay,Michele;Jenkins,Trefor;Shyue,Song-Kun;Li,Wen-Hsiung
• 通讯作者: Li,Wen-Hsiung

Detection of gene duplications and block duplications in eukaryotic genomes.

• DOI: 10.1023/a:1022644628861
• 发表时间: 2003-01-01
• 期刊: Journal of Structural and Functional Genomics
• 作者: Li, Wen-Hsiung;Gu, Zhenglong;Nekrutenko, Anton
• 通讯作者: Nekrutenko, Anton

Human DNA sequence variation in a 6.6-kb region containing the melanocortin 1 receptor promoter.

包含黑皮质素 1 受体启动子的 6.6 kb 区域中的人类 DNA 序列变异。

• DOI: 10.1093/genetics/158.3.1253
• 发表时间: 2001
• 期刊: Genetics
• 影响因子: 3.3
• 作者: Makova,KD;Ramsay,M;Jenkins,T;Li,WH
• 通讯作者: Li,WH

High polymorphism at the human melanocortin 1 receptor locus.

人黑皮质素 1 受体基因座的高度多态性。

• DOI: 10.1093/genetics/151.4.1547
• 发表时间: 1999
• 期刊: Genetics
• 影响因子: 3.3
• 作者: Rana,BK;Hewett-Emmett,D;Jin,L;Chang,BH;Sambuughin,N;Lin,M;Watkins,S;Bamshad,M;Jorde,LB;Ramsay,M;Jenkins,T;Li,WH
• 通讯作者: Li,WH

Contrasting levels of DNA polymorphism at the autosomal and X-linked visual color pigment loci in humans and squirrel monkeys.

人类和松鼠猴常染色体和 X 连锁视觉色素位点 DNA 多态性水平的对比。

• DOI: 10.1093/oxfordjournals.molbev.a025941
• 发表时间: 1998
• 期刊: Molecular biology and evolution
• 影响因子: 10.7
• 作者: Shimmin,LC;Miller,J;Tran,HN;Li,WH
• 通讯作者: Li,WH