高变异性、重组抑制与个体遗传学
Hypervariability, suppressed recombination and the genetics of individuality.
作者信息
Olson M V, Kas A, Bubb K, Qui R, Smith E E, Raymond C K, Kaul R
机构信息
University of Washington Genome Center, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
出版信息
Philos Trans R Soc Lond B Biol Sci. 2004 Jan 29;359(1441):129-40. doi: 10.1098/rstb.2003.1418.
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 in Pseudomonas aeruginosa and 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.
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，且涉及的性状足够常见，以至于在任何规模适中的个体样本中都能观察到。我们提出，遗传个体性在很大程度上是由少数基因的组合重排所塑造的，每个基因都以功能和结构上有差异的等位基因家族形式存在。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。我们研究了这些等位基因家族的特征，并探讨了在人类遗传变异的全基因组扫描中识别具有相似特征的基因座的可能性。
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