Nucleotide variation in the Egfr locus of Drosophila melanogaster
Nucleotide variation in the Egfr locus of Drosophila melanogaster
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DOI：
10.1534/genetics.104.026252
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发表时间：
2004-07-01
期刊：
影响因子：
3.3
通讯作者：
Gibson, G
中科院分区：
文献类型：
--
作者：
Palsson, A;Rouse, A;Gibson, G
表皮生长因子受体是一种在动物界发育过程中具有多种多样作用的必需基因。在10.9 kb的完整编码区和6.4 kb的潜在调控区的样本中的250个等位基因从三个种群的果蝇的序列多样性分析表明，不同的人口遗传力的强度不同沿着的座位。共检测到238个独立的常见SNP和20个indel多态性，其中仅6个常见替换影响> 1475个氨基酸，其中4个位于短交替第一外显子中。内含子2的2kb片段的序列多样性最低，与D. simulans和D.伪暗连锁不平衡在大多数位点的500 bp内衰减到背景水平，因此单倍型通常限于最多5个多态性。来自北卡罗来纳州和加州的两个北美样本在少数单个SNP的等位基因频率上存在分歧，但肯尼亚样本的分歧更大，多态性更高。样本量的影响，人口结构的推断的作用，不均匀的重组，和弱选择图案的位点的核苷酸变异进行了讨论。
The Epidermal growth factor receptor is an essential gene with diverse pleiotropic roles in development throughout the animal kingdom. Analysis of sequence diversity in 10.9 kb covering the complete coding region and 6.4 kb of potential regulatory regions in a sample of 250 alleles from three populations of Drosophila melanogaster suggests that the intensity of different population genetic forces varies along the locus. A total of 238 independent common SNPs and 20 indel polymorphisms were detected, with just six common replacements affecting > 1475 amino acids, four of which are in the short alternate first exon. Sequence diversity is lowest in a 2-kb portion of intron 2, which is also highly conserved in comparison with D. simulans and D. pseudoobscura. Linkage disequilibrium decays to background levels within 500 bp of most sites, so haplotypes are generally restricted to up to 5 polymorphisms. The two North American samples from North Carolina and California have diverged in allele frequency at a handful of individual SNPs, but a Kenyan sample is both more divergent and more polymorphic. The effect of sample size on inference of the roles of population structure, uneven recombination, and weak selection in patterning nucleotide variation in the locus is discussed.