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人类胎儿珠蛋白基因区域的短基因转换:减数分裂期间染色体配对的副产物?

Short gene conversions in the human fetal globin gene region: a by-product of chromosome pairing during meiosis?

作者信息

Powers P A, Smithies O

出版信息

Genetics. 1986 Feb;112(2):343-58. doi: 10.1093/genetics/112.2.343.

Abstract

DNA sequence comparisons of a 1200-base pair (bp) region in 14 human fetal globin genes in seven linked pairs reveal 31 nucleotide substitutions at positions where the fetal globin genes, G gamma and A gamma, usually differ. In each case, the newly substituted nucleotide is identical to the one found at the same position in the linked nonallelic gene. Most of these nucleotide substitutions are clearly the result of gene conversions, but 11 could be the result of either very short gene conversions or of point mutations. The unexpectedly frequent occurrence of these short gene conversions suggests that they may be the relics of some normal interaction between homologous but nonallelic DNA sequences, and we discuss the possibility that they result from interactions occurring between homologous sequences during the process of meiotic chromosome pairing.

摘要

对7对连锁的14个人类胎儿珠蛋白基因中1200个碱基对(bp)区域的DNA序列比较显示,在胎儿珠蛋白基因Gγ和Aγ通常不同的位置有31个核苷酸替换。在每种情况下,新替换的核苷酸与连锁的非等位基因中相同位置发现的核苷酸相同。这些核苷酸替换大多显然是基因转换的结果,但有11个可能是非常短的基因转换或点突变的结果。这些短基因转换出乎意料地频繁出现,表明它们可能是同源但非等位DNA序列之间某些正常相互作用的遗迹,并且我们讨论了它们是在减数分裂染色体配对过程中同源序列之间发生的相互作用导致的可能性。

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