Laboratory of Genetics and Evolution, Institute of Zoology and Biomedical Research, Jagiellonian University, Krakow, Poland.
Laboratory of Genetics and Evolution, Institute of Zoology and Biomedical Research, Jagiellonian University, Krakow, Poland; Forensic Genetics Section, Institute of Forensic Research, Krakow, Poland.
Reprod Biol. 2022 Jun;22(2):100614. doi: 10.1016/j.repbio.2022.100614. Epub 2022 Feb 17.
B10.BR-Y male mice with large deletion in the male-specific region of the Y chromosome long arm (MSYq) are very useful experimental model which requires, however, more detailed characterization. In the present study, the influence of the deletion on transcript levels of MSYq genes (Ssty1, Ssty2, Sly, Srsy, Asty, Orly) and homologous to them X-linked genes (Sstx, Slx, Slxl1, Srsx) was assessed. Quantitative PCR analysis showed that in testes of B10.BR-Y males activity of Ssty1 is unchanged, but transcription from all other MSYq genes is highly reduced and reaches from 59 % to only 5 % of the control levels. The decrease in expression of MSYq genes is accompanied by the two-fold increase in expression of Slx and Slxl1 genes. This is the first functional characterization of the deletion in B10.BR-Y strain. Another aim of the study was to reveal the mechanism through which deleted Y chromosome of B10.BR-Y males could alter phenotype of their female progeny, what was documented in our previous works. Epigenetic inheritance hypothesis was tested by microarray analysis of DNA methylation in B10.BR-Y and control B10.BR sperm. The assessment revealed moderate differences and allowed concluding that the mutated Y chromosome can influence traits of females from the next generation partially through altering sperm DNA methylation, but probably some additional mechanisms are engaged here. Breeding data indicate that feminization of pre- and neonatal environment in which next generation females develop is one of such additional mechanisms.
B10.BR-Y 雄性小鼠的 Y 染色体长臂（MSYq）上存在大片段缺失，是一种非常有用的实验模型，但需要更详细的特征描述。在本研究中，我们评估了缺失对 MSYq 基因（Ssty1、Ssty2、Sly、Srsy、Asty、Orly）和同源的 X 连锁基因（Sstx、Slx、Slxl1、Srsx）转录水平的影响。定量 PCR 分析显示，在 B10.BR-Y 雄性的睾丸中，Ssty1 的活性没有变化，但其他所有 MSYq 基因的转录都显著降低，仅为对照水平的 5%至 59%。MSYq 基因表达的下降伴随着 Slx 和 Slxl1 基因表达的两倍增加。这是对 B10.BR-Y 品系缺失的首次功能特征描述。本研究的另一个目的是揭示缺失的 Y 染色体如何改变 B10.BR-Y 雄性后代的表型，这在我们之前的工作中已有报道。通过 B10.BR-Y 和对照 B10.BR 精子的 DNA 甲基化微阵列分析，我们测试了表观遗传遗传假说。评估结果显示存在适度差异，并得出结论，突变的 Y 染色体可以部分通过改变精子 DNA 甲基化来影响下一代雌性的特征，但可能还涉及其他机制。繁殖数据表明，下一代雌性发育的前新生期环境的女性化是其中一种额外机制。
