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黑腹果蝇中两个连锁基因座Sod和Est-6处的遗传多态性。

Genetic polymorphism at two linked loci, Sod and Est-6, in Drosophila melanogaster.

作者信息

Ayala Francisco J, Balakirev Evgeniy S, Sáez Alberto G

机构信息

Department of Ecology and Evolutionary Biology, University of California, 321 Steinhaus Hall, Irvine, CA 92697-2525, USA.

出版信息

Gene. 2002 Oct 30;300(1-2):19-29. doi: 10.1016/s0378-1119(02)00852-1.

Abstract

We have examined the patterns of polymorphism at two linked loci, Sod and Est-6, separated by nearly 1000 kb on the left arm of chromosome 3 of Drosophila melanogaster. The evidence suggests that natural selection has been involved in shaping the polymorphisms. At the Sod locus, a fairly strong (s>0.01) selective sweep, started >or=2600 years ago, increased the frequency of a rare haplotype, F(A), to about 50% frequency in populations of Europe, Asia, and the Americas. More recently, an F(A) allele mutated to an S allele, which has increased to frequencies 5-15% in populations of Europe, Asia and North America. All S alleles are identical (or very nearly) in sequence and differ by one nucleotide substitution (which accounts for the F-->S electrophoretic difference) from F(A) alleles. At the Est-6 locus, the evidence indicates both directional and balancing selection impacting separately the promoter and the coding regions of the gene, with linkage disequilibrium occurring within each region. Some linkage disequilibrium also exists between the two genes.

摘要

我们研究了果蝇黑腹果蝇3号染色体左臂上两个连锁位点Sod和Est-6的多态性模式,这两个位点相隔近1000 kb。证据表明,自然选择参与了塑造这些多态性。在Sod位点,一场始于≥2600年前的相当强烈(s>0.01)的选择性清除,将一种罕见单倍型F(A)的频率提高到了欧洲、亚洲和美洲种群中约50%的频率。最近,一个F(A)等位基因突变成为S等位基因,该等位基因在欧洲、亚洲和北美种群中的频率已增加到5% - 15%。所有S等位基因在序列上相同(或非常接近),与F(A)等位基因相差一个核苷酸替换(这解释了F→S的电泳差异)。在Est-6位点,证据表明定向选择和平衡选择分别影响该基因的启动子和编码区,且每个区域内都存在连锁不平衡。这两个基因之间也存在一些连锁不平衡。

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