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重组、干涉与序列:21号和22号染色体的比较

Recombination, interference and sequence: comparison of chromosomes 21 and 22.

作者信息

Tapper W J, Ke X, Morton N E, Collins A

机构信息

Human Genetic Research Division, University of Southampton, UK.

出版信息

Ann Hum Genet. 2002 Jan;66(Pt 1):75-86. doi: 10.1017/S0003480001008946.

Abstract

The euchromatic regions of chromosomes 21 and 22 are almost completely sequenced and have similar lengths (33.7-34.6 Mb). This similarity effectively controls for the influence of length, making comparisons of recombination and interference interesting. For both chromosomes, there is less male than female recombination, and male recombination is associated with GT/CA repeats. The striking sex difference may result from greater condensation of chromosomes in paternal meiosis, possibly restricting recombination to regions with longer repeat tracts and/or higher repeat densities. Chiasma interference in both sexes for chromosome 22 and in females for chromosome 21 is close to the genome average. Chromosome 21 is significantly different in male meiosis, with near complete interference, suggesting that even when double recombinants occur they are widely spaced. We propose that this difference is related to the different distribution of GT/CA dinucleotides. These repeats are widely distributed on chromosome 22, perhaps offering greater opportunities for double recombinants to occur within smaller regions, whereas they are largely subtelomeric in distribution on chromosome 21.

摘要

21号和22号染色体的常染色质区域几乎已完成全序列测定,且长度相近(33.7 - 34.6兆碱基)。这种相似性有效地控制了长度的影响,使得对重组和干涉的比较变得有趣。对于这两条染色体,雄性的重组都少于雌性,且雄性重组与GT/CA重复序列相关。这种显著的性别差异可能是由于父本减数分裂中染色体凝缩程度更高,这可能将重组限制在具有更长重复片段和/或更高重复密度的区域。22号染色体在两性中的交叉干涉以及21号染色体在雌性中的交叉干涉接近基因组平均水平。21号染色体在雄性减数分裂中有显著差异,几乎完全干涉,这表明即使发生双重组,它们之间的距离也很宽。我们认为这种差异与GT/CA二核苷酸的不同分布有关。这些重复序列在22号染色体上广泛分布,可能为双重组在较小区域内发生提供了更多机会,而它们在21号染色体上主要分布在亚端粒区域。

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