Department of Chemistry, Biology and Biotechnology, University of Perugia, 06123 Perugia, Italy.
Department of Veterinary Medicine, University of Perugia, 06126 Perugia, Italy.
Genes (Basel). 2022 Dec 2;13(12):2272. doi: 10.3390/genes13122272.
The present equine genetic variation mirrors the deep influence of intensive breeding programs during the last 200 years. Here, we provide a comprehensive current state of knowledge on the trends and prospects on the variation in the equine male-specific region of the Y chromosome (MSY), which was assembled for the first time in 2018. In comparison with the other 12 mammalian species, horses are now the most represented, with 56 documented MSY genes. However, in contrast to the high variability in mitochondrial DNA observed in many horse breeds from different geographic areas, modern horse populations demonstrate extremely low genetic Y-chromosome diversity. The selective pressures employed by breeders using pedigree data (which are not always error-free) as a predictive tool represent the main cause of this lack of variation in the Y-chromosome. Nevertheless, the detailed phylogenies obtained by recent fine-scaled Y-chromosomal genotyping in many horse breeds worldwide have contributed to addressing the genealogical, forensic, and population questions leading to the reappraisal of the Y-chromosome as a powerful genetic marker to avoid the loss of biodiversity as a result of selective breeding practices, and to better understand the historical development of horse breeds.
目前的马种遗传变异反映了过去 200 年来密集的繁殖计划的深远影响。在这里，我们提供了关于马种 Y 染色体雄性特异性区域（MSY）变异趋势和前景的全面最新知识，这是该区域在 2018 年首次组装的。与其他 12 种哺乳动物相比，马现在的代表性最强，已有 56 个记录的 MSY 基因。然而，与许多来自不同地理区域的马品种中观察到的线粒体 DNA 高度变异性相比，现代马种群的 Y 染色体遗传多样性极低。马的繁殖者使用系谱数据（这些数据并不总是无错误的）作为预测工具所施加的选择压力是造成 Y 染色体缺乏变异的主要原因。然而，最近在全球许多马品种中进行的精细 Y 染色体基因分型获得的详细系统发育树有助于解决谱系学、法医学和种群问题，从而重新评估 Y 染色体作为一种强大的遗传标记，以避免由于选择性繁殖实践而导致的生物多样性丧失，并更好地了解马种的历史发展。
