Y CHROMOSOME VARIATION

Y染色体变异

• 批准号: 2857269
• 负责人: LUIGI L CAVALLI-SFORZA
• 金额: $ 35.63万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-01-01 至 2002-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2857269
• 关键词: DNA; alleles; biochemical evolution; denaturing gradient gel electrophoresis; gene frequency; genetic markers; genetic polymorphism; genome; genotype; human genetic material tag; human population genetics; human subject; male; nucleic acid sequence; polymerase chain reaction; sequence tagged sites; sex chromosomes

The aim of this proposal is to comparatively survey at least 100 Kb of Y specific sequence in 50 males of diverse geographic origin to discover equal to or less than 100 of evolutionary stable polymorphic markers. While the potential of the haploid, non-recombining portion of the human Y chromosome to address issues concerning the evolution of modern humans has been long recognized, progress has been slow because of an innate scarcity of variation and the inefficient means by which to identify such markers. Recently significant headway concerning the acceleration of polymorphism discovery has been achieved by systematically implementing an innovative and cost efficient method, called denaturing high-performance liquid chromatography (DHPLC). The power of the method resides in its ability to rapidly compare amplified sequences in an automated fashion, ultimately granting the opportunity to survey at least 5 million base pairs for sequence variation. DNA fragments several hundred base pairs in length will be scanned for the presence or absence of heteroduplexes, which reflect single-nucleotide base composition differences. Allele frequencies at each locus will be determined by genotyping a globally diverse collection of equal to or > 500 Y chromosomes. Population specific haplotypes will be constructed and issues relating to origins, migration patterns and degrees of male- mediated admixture will be addressed. Consequently, it should possible to reconstruct a detailed human evolutionary tree.

该提案的目的是比较调查至少100 Kb的 Y特异性序列在50个不同地理来源的男性， 发现等于或小于100个进化稳定多态性 标记。虽然单倍体的潜力，非重组部分 研究人类Y染色体的进化问题 现代人类的进化已经被认识很久了， 因为变异的先天稀缺性和低效率的手段 来识别这些标记。最近取得重大进展 关于多态性发现的加速已经实现 通过系统地实施创新的和成本有效的方法， 称为变性高效液相色谱法（DHPLC）。的 该方法的力量在于其快速比较扩增的 以自动化的方式进行序列，最终给予机会， 来调查至少五百万个碱基对的序列变异。DNA 将扫描长度为几百个碱基对的片段， 存在或不存在异源双链体，其反映单核苷酸 基础成分差异。每个位点的等位基因频率将是 通过对全球多样的等于或等于 > 500个Y染色体。将构建群体特异性单倍型 以及与原籍国、移徙模式和男性- 将讨论介导的混合物。因此， 来重建一个详细的人类进化树

项目成果

A nomenclature system for the tree of human Y-chromosomal binary haplogroups.

• DOI: 10.1101/gr.217602
• 发表时间: 2002-10
• 期刊: Genome research
• 影响因子: 7
• 作者: A. Redd

Population genetic implications from sequence variation in four Y chromosome genes.

• DOI: 10.1073/pnas.97.13.7354
• 发表时间: 2000-06
• 期刊: Proceedings of the National Academy of Sciences of the United States of America
• 影响因子: 11.1
• 作者: P. Shen;Frank Wang;P. Underhill;Cláudia Franco;Wei-Hsien Yang;Adriane Roxas;Raphael K. Sung;A. A. Lin-A.;R. Hyman;D. Vollrath;Ronald W. Davis;L. Cavalli-Sforza;P. Oefner