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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Allelic Recombination Between Distinct Genomic Locations Generates Copy Number Diversity In Human β-defensins
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Allelic Recombination Between Distinct Genomic Locations Generates Copy Number Diversity In Human β-defensins

机译：不同基因组位置之间的等位重组在人β-防御素中产生拷贝数多样性

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摘要

β-Defensins are small secreted antimicrobial and signaling pep-tides involved in the innate immune response of vertebrates. In humans, a cluster of at least 7 of these genes shows extensive copy number variation, with a diploid copy number commonly ranging between 2 and 7. Using a genetic mapping approach, we show that this cluster is at not 1 but 2 distinct genomic loci ≈5 Mb apart on chromosome band 8p23.1, contradicting the most recent genome assembly. We also demonstrate that the predominant mechanism of change in β-defensin copy number is simple allelic recombination occurring in the interval between the 2 distinct genomic loci for these genes. In 416 meiotic transmissions, we observe 3 events creating a haplotype copy number not found in the parent, equivalent to a germ-line rate of copy number change of 0.7% per gamete. This places it among the fastest-changing copy number variants currently known.
机译：β-防御素是参与脊椎动物先天免疫反应的小分子分泌的抗菌肽和信号肽。在人类中，至少有7个这些基因的簇显示出广泛的拷贝数变异，二倍体拷贝数通常在2到7之间。使用遗传作图方法，我们显示该簇不是1个而是2个不同的基因组位点在染色体带8p23.1上相距≈5Mb，这与最近的基因组装配相矛盾。我们还证明，β-防御素拷贝数变化的主要机制是在这些基因的两个不同基因组基因座之间的间隔中发生的简单等位基因重组。在416种减数分裂传播中，我们观察到3个事件产生了在亲本中找不到的单倍型拷贝数，相当于每配子的种系拷贝数变化率为0.7％。这使其成为当前已知变化最快的副本编号变体之一。

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