Where is the boundary of the human pseudoautosomal region?

IF 8.1 1区 生物学 Q1 GENETICS & HEREDITY
American journal of human genetics Pub Date : 2024-11-07 Epub Date: 2024-10-14 DOI:10.1016/j.ajhg.2024.09.005
Daniel W Bellott, Jennifer F Hughes, Helen Skaletsky, Erik C Owen, David C Page
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引用次数: 0

Abstract

A recent publication describing the assembly of the Y chromosomes of 43 males was remarkable not only for its ambitious technical scope but also for the startling suggestion that the boundary of the pseudoautosomal region 1 (PAR1), where the human X and Y chromosomes engage in crossing-over during male meiosis, lies 500 kb distal to its previously reported location. Where is the boundary of the human PAR1? We first review the evidence that mapped the PAR boundary, or PAB, before the human genome draft sequence was produced, then examine post-genomic datasets for evidence of crossing-over between the X and Y, and lastly re-examine contiguous sequence assemblies of the PAR-NPY boundary to see whether they support a more distal PAB. We find ample evidence of X-Y crossovers throughout the 500 kb in question, some as close as 246 bp to the previously reported PAB. Our new analyses, combined with previous studies over the past 40 years, provide overwhelming evidence to support the original position and narrow the probable location of the PAB to a 201-bp window.

人类假常染色体区域的边界在哪里?
最近发表的一篇文章描述了 43 条男性 Y 染色体的组装过程,这篇文章不仅因其雄心勃勃的技术范围而引人注目,而且还令人吃惊地发现,人类 X 染色体和 Y 染色体在男性减数分裂过程中发生交叉的假常染色体区 1(PAR1)的边界,与之前报道的位置相差 500 kb。人类 PAR1 的边界在哪里?我们首先回顾了在人类基因组草案序列产生之前绘制 PAR 边界或 PAB 的证据,然后检查了基因组之后的数据集,以寻找 X 和 Y 染色体交叉的证据,最后重新检查了 PAR-NPY 边界的连续序列组装,以确定它们是否支持更远的 PAB。我们发现在整个 500 kb 的范围内存在大量 X-Y 交叉的证据,其中一些证据与之前报道的 PAB 相差 246 bp。我们的新分析与过去 40 年的研究相结合,提供了大量证据支持最初的位置,并将 PAB 的可能位置缩小到 201 bp 窗口。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
14.70
自引率
4.10%
发文量
185
审稿时长
1 months
期刊介绍: The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.
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