Behrens Kristen A, Koblmüller Stephan, Kocher Thomas D
Department of Biology, University of Maryland, College Park, MD, United States.
Institute of Biology, University of Graz, Graz, Austria.
Front Genet. 2024 Aug 16;15:1447628. doi: 10.3389/fgene.2024.1447628. eCollection 2024.
Advances in genome sequencing have greatly accelerated the identification of sex chromosomes in a variety of species. Many of these species have experienced structural rearrangements that reduce recombination between the sex chromosomes, allowing the accumulation of sequence differences over many megabases. Identification of the genes that are responsible for sex determination within these sometimes large regions has proved difficult. Here, we identify an XY sex chromosome system on LG19 in the West African cichlid fish in which the region of differentiation extends over less than 400 kb. We develop high-quality male and female genome assemblies for this species, which confirm the absence of structural variants, and which facilitate the annotation of genes in the region. The peak of differentiation lies within , which has experienced several debilitating mutations on the Y chromosome. We suggest two hypotheses about how these mutations might disrupt endocytosis, leading to Mendelian effects on sexual development.
基因组测序技术的进步极大地加速了多种物种性染色体的鉴定。这些物种中有许多经历了结构重排,减少了性染色体之间的重组,使得数百万碱基上的序列差异得以积累。在这些有时很大的区域内鉴定负责性别决定的基因已被证明很困难。在这里,我们在西非丽鱼科鱼类的LG19染色体上鉴定出一个XY性染色体系统,其中分化区域延伸不到400 kb。我们为该物种开发了高质量的雄性和雌性基因组组装体,证实了不存在结构变异,并有助于对该区域的基因进行注释。分化峰值位于 ,Y染色体上经历了几次使功能丧失的突变。我们提出了两个关于这些突变如何破坏内吞作用从而导致对性发育产生孟德尔效应的假说。