首页> 外文期刊>Genomics >The immunoglobulin lambda variable light-chain region in primates has been shaped by multiple, independent, small-scale and large-scale insertion/deletion events.
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The immunoglobulin lambda variable light-chain region in primates has been shaped by multiple, independent, small-scale and large-scale insertion/deletion events.

机译:灵长类中的免疫球蛋白λ可变轻链区已通过多次,独立,小规模和大规模的插入/缺失事件形成。

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摘要

We analyzed genomes of nonhuman primates to determine the ancestral state of a 9.1-kb insertion/deletion polymorphism, located on human chromosome 22. The 9.1-kb+ allele was found in 16 chimpanzees, 3 bonobos, and 2 Bornean orangutans; however, 9 chimpanzees and 6 Sumatran orangutans showed neither the 9.1-kb+ nor the 9.1-kb- allele, but a novel allele, termed 9.1-kbnull. A clone from a chimpanzee BAC library carrying the 9.1-kbnull allele was sequenced: the BAC DNA aligns with the human chromosome 22 reference sequence except for a 75-kb region, suggesting that the 9.1-kbnull allele originated from a deletion. Furthermore, the 9.1-kb+ chromosomes of chimpanzees and bonobos contain a 1030-nucleotide sequence, absent in humans, that may result from a retro-transposition insertion in their common ancestor. Our results provide additional evidence that human chromosome 22 has undergone multiple small-scale and large-scale insertions and deletions since sharing a common ancestor with other primates.
机译:我们分析了非人类灵长类动物的基因组,以确定位于人类22号染色体上的9.1kb插入/缺失多态性的祖先状态。在16个黑猩猩,3个bo黑猩猩和2个婆罗洲猩猩中发现了9.1kb +等位基因。然而,有9只黑猩猩和6只苏门答腊猩猩没有显示9.1-kb +和9.1-kb-等位基因,而是一个新的等位基因,称为9.1-kbnull。从黑猩猩BAC库中克隆了9.1 kb等位基因的克隆进行了测序:BAC DNA除75 kb区域外,与人类22号染色体参考序列比对,这表明9.1 kbnull等位基因源自缺失。此外,黑猩猩和bo黑猩猩的9.1-kb +染色体包含人类不存在的1030个核苷酸序列,这可能是由于其共同祖先的逆转插入而导致的。我们的结果提供了其他证据,表明自与其他灵长类动物共享共同祖先以来,人类22号染色体就经历了多次小规模和大规模的插入和缺失。

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