Jining Medical University, Jining, 272067, China.
Center for Forensic Science, Jining Medical University, Jining, 272067, China.
Int J Legal Med. 2021 Jul;135(4):1351-1358. doi: 10.1007/s00414-021-02596-x. Epub 2021 Apr 26.
The Y chromosome is male-specific and is important for spermatogenesis and male fertility. However, the Y chromosome is poorly characterized due to massive palindromes and inverted repeats, which increase the likelihood of genomic rearrangements, resulting in short tandem repeats on the Y chromosome or long fragment deletions. The present study reports a large-scale (2.573~2.648 Mb) deletion in the Yp11.2 region in a Chinese population based on the analysis of 34 selected Y-specific sequence-tagged sites and subsequent sequencing of the breakpoint junctions on the Y chromosome from 5,068,482-5,142,391 bp to 7,715,462-7,716,695 bp. The results of sequence analysis indicated that the deleted region included part or all of the following five genes: PCDH11Y, TSPY, AMELY, TBL1Y, and RKY. These genes are associated with spermatogenesis or amelogenesis and various other processes; however, specific physiological functions and molecular mechanisms of these genes remain unclear. Notably, individuals with this deletion pattern did not have an obvious pathological phenotype but manifested some degree of amelogenesis imperfecta.
Y 染色体是男性特有的，对于精子发生和男性生育能力至关重要。然而，由于大量回文和倒位重复，Y 染色体的特征很差，这增加了基因组重排的可能性，导致 Y 染色体上的短串联重复或长片段缺失。本研究基于对 34 个选定的 Y 特异性序列标记位点的分析，以及对 5,068,482-5,142,391 bp 至 7,715,462-7,716,695 bp 之间的 Y 染色体上的断裂点连接处进行的后续测序，报告了中国人群中 Yp11.2 区域的一个大规模（2.573~2.648 Mb）缺失。序列分析的结果表明，缺失区域包括以下五个基因的部分或全部：PCDH11Y、TSPY、AMELY、TBL1Y 和 RKY。这些基因与精子发生或牙釉质形成以及其他各种过程有关；然而，这些基因的具体生理功能和分子机制尚不清楚。值得注意的是，具有这种缺失模式的个体没有明显的病理表型，但表现出一定程度的牙釉质不全。
