Hypervariability, suppressed recombination and the genetics of individuality.
Hypervariability, suppressed recombination and the genetics of individuality.
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高变性、抑制重组和个体遗传。
DOI：
10.1098/rstb.2003.1418
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
Kaul,R
中科院分区：
文献类型：
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作者：
Olson,MV;Kas,A;Bubb,K;Qui,R;Smith,EE;Raymond,CK;Kaul,R
我们将“遗传个体性”定义为种内变异，这种变异具有显著的遗传力，并且涉及足够常见的特征，这些特征可以在任何中等规模的个体样本中观察到。我们认为，遗传个体性在很大程度上是由适度数量的基因的组合洗牌形成的，每个基因都是作为一个功能和结构分歧的等位基因家族存在的。在铜绿假单胞菌的O-抗原生物合成位点和人类的人类白细胞抗原位点发现了这种等位基因家族的明确例子。我们研究这些等位基因家族的特征，并探讨具有相似特征的遗传位点在人类遗传变异的全基因组扫描中被识别的可能性。
We define ‘genetic individuality’ as intraspecies variation that has substantial heritability and involves traits that are sufficiently common that they can be observed in any modest–sized sampling of individuals. We propose that genetic individuality is largely shaped by the combinatory shuffling of a modest number of genes, each of which exists as a family of functionally and structurally diverged alleles. Unequivocal examples of such allele families are found at the O–antigen–biosynthetic locus inPseudomonas aeruginosaand the human leucocyte antigen locus in humans. We examine characteristic features of these allele families and explore the possibility that genetic loci with similar characteristics can be recognized in a whole–genome scan of human genetic variation.