Xu Yong, Pang Qianqian
Department of Emergency Surgery, Jining NO 1 People's Hospital, Jining, China.
Institute of Forensic Medicine and Laboratory Medicine, Jining Medical University, Jining, China.
Front Cell Dev Biol. 2022 Jul 13;10:831338. doi: 10.3389/fcell.2022.831338. eCollection 2022.
The male-specific Y chromosome, which is well known for its diverse and complex repetitive sequences, has different sizes, genome structures, contents and evolutionary trajectories from other chromosomes and is of great significance for testis development and function. The large number of repetitive sequences and palindrome structure of the Y chromosome play an important role in maintaining the stability of male sex determining genes, although they can also cause non-allelic homologous recombination within the chromosome. Deletion of certain Y chromosome sequences will lead to spermatogenesis disorders and male infertility. And Y chromosome genes are also involved in the occurrence of reproductive system cancers and can increase the susceptibility of other tumors. In addition, the Y chromosome has very special value in the personal identification and parentage testing of male-related cases in forensic medicine because of its unique paternal genetic characteristics. In view of the extremely high frequency and complexity of gene rearrangements and the limitations of sequencing technology, the analysis of Y chromosome sequences and the study of Y-gene function still have many unsolved problems. This article will introduce the structure and repetitive sequence of the Y chromosome, summarize the correlation between Y chromosome various sequence deletions and male infertility for understanding the repetitive sequence of Y chromosome more systematically, in order to provide research motivation for further explore of the molecules mechanism of Y-deletion and male infertility and theoretical foundations for the transformation of basic research into applications in clinical medicine and forensic medicine.
男性特有的Y染色体以其多样而复杂的重复序列而闻名，其大小、基因组结构、内容和进化轨迹与其他染色体不同，对睾丸发育和功能具有重要意义。Y染色体大量的重复序列和回文结构在维持男性性别决定基因的稳定性方面发挥着重要作用，尽管它们也会导致染色体内的非等位基因同源重组。某些Y染色体序列的缺失会导致精子发生障碍和男性不育。而且Y染色体基因也与生殖系统癌症的发生有关，并会增加其他肿瘤的易感性。此外，由于其独特的父系遗传特征，Y染色体在法医学中男性相关案件的个人识别和亲子鉴定中具有非常特殊的价值。鉴于基因重排的频率极高且复杂性以及测序技术的局限性，Y染色体序列分析和Y基因功能研究仍有许多未解决的问题。本文将介绍Y染色体的结构和重复序列，总结Y染色体各种序列缺失与男性不育之间的相关性，以便更系统地了解Y染色体的重复序列，为进一步探索Y缺失与男性不育的分子机制提供研究动力，并为基础研究转化为临床医学和法医学应用提供理论基础。
