Whitehead Institute, Cambridge, MA 02142, USA.
Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA.
Am J Hum Genet. 2024 Nov 7;111(11):2530-2541. doi: 10.1016/j.ajhg.2024.09.005. Epub 2024 Oct 14.
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.
最近的一篇描述 43 名男性 Y 染色体组装的出版物引人注目，不仅因为其雄心勃勃的技术范围，还因为惊人的发现：假常染色体区 1（PAR1）的边界，人类 X 和 Y 染色体在减数分裂过程中发生交叉的区域，位于先前报道的位置 500 kb 之外。人类 PAR1 的边界在哪里？我们首先回顾了在人类基因组草图序列产生之前，定位 PAR 边界（PAB）的证据，然后检查基因组序列后的数据，以寻找 X 和 Y 之间交叉的证据，最后重新检查 PAR-NPY 边界的连续序列组装，以确定它们是否支持更远的 PAB。我们发现了大量证据表明，在 500 kb 范围内存在 X-Y 交叉，有些距离先前报道的 PAB 仅 246 bp。我们的新分析结果与过去 40 年的研究结果相结合，提供了压倒性的证据支持原始位置，并将 PAB 的可能位置缩小到 201-bp 窗口。
