Molecular Population Genetics of Inversion Polymorphism

反转多态性的分子群体遗传学

• 批准号: 9408869
• 负责人: Martin Kreitman
• 金额: $ 13.1万
• 依托单位: University of Chicago
• 依托单位国家: 美国
• 项目类别: Continuing Grant
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-04-01 至 1998-03-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=9408869&HistoricalAwards=false
• 关键词: Molecular; Population; Genetics; Inversion; Polymorphism

9408869 Kreitman This research will examine DNA sequence features associated with naturally occurring chromosomal rearrangements in natural populations of the fruitfly, Drosophila. Rearrangement of the genetic material, such as that caused by chromosomal translocations and inversions, are common; however, they are also causally associated with a number of genetic diseases in humans and other species. In addition, the aberrant segregation of many kinds of rearrangements with non-rearranged chromosomes in also strongly deleterious. Despite this expectation that gross rearrangement of chromosomal material will have strongly negative fitness consequences, and therefore should be rare in nature, their presence as polymorphisms in natural populations of many species and as fixed differences between species, suggests that many inversions must, in some cases, be selectively neutral or favorable. It is the goal of this research to examine the history of several inversions and to test hypotheses about the maintenance of genetic variation as well as to investigate the influence of chromosomal rearrangement on the expression and function of genes near the breakpoints. This work will also produce insights into the molecular mechanism(s) leading to chromosomal breakage. The findings will have direct applicability to the understanding of human variation and disease.

9408869克莱特曼这项研究将检验果蝇自然种群中与自然发生的染色体重排相关的脱氧核糖核酸序列特征。遗传物质的重排，例如由染色体易位和倒位引起的重排是常见的；然而，它们也与人类和其他物种的一些遗传病有因果关系。此外，多种重排与非重排染色体的异常分离也具有很强的危害性。尽管这种预期认为染色体材料的总体重排将产生强烈的负面适合性后果，因此在自然界中应该是罕见的，但它们在许多物种的自然种群中的存在作为多态和物种之间的固定差异表明，在某些情况下，许多倒位必须是选择性的中性或有利的。这项研究的目的是考察几个倒位的历史，检验关于保持遗传变异的假说，以及调查染色体重排对断点附近基因表达和功能的影响。这项工作还将对导致染色体断裂的分子机制(S)产生深刻的见解。这些发现将直接适用于理解人类变异和疾病。