Division of Evolutionary Ecology, Institute of Ecology and Evolution, University of Bern, Bern, Switzerland.
Department of Biology, Mount Royal University, Calgary, Alberta, Canada.
J Evol Biol. 2022 Dec;35(12):1683-1695. doi: 10.1111/jeb.14034. Epub 2022 Jul 11.
Sex chromosomes vary greatly in their age and levels of differentiation across the tree of life. This variation is largely due to the rates of sex chromosome turnover in different lineages; however, we still lack an explanation for why sex chromosomes are so conserved in some lineages (e.g. mammals, birds) but so labile in others (e.g. teleosts, amphibians). To identify general mechanisms driving transitions in sex determination systems or forces which favour their conservation, we first require empirical data on sex chromosome systems from multiple lineages. Stickleback fishes are a valuable model lineage for the study of sex chromosome evolution due to variation in sex chromosome systems between closely-related species. Here, we identify the sex chromosome and a strong candidate for the master sex determination gene in the brook stickleback, Culaea inconstans. Using whole-genome sequencing of wild-caught samples and a lab cross, we identify AmhY, a male specific duplication of the gene Amh, as the candidate master sex determination gene. AmhY resides on Chromosome 20 in C. inconstans and is likely a recent duplication, as both AmhY and the sex-linked region of Chromosome 20 show little sequence divergence. Importantly, this duplicate AmhY represents the second independent duplication and recruitment of Amh as the sex determination gene in stickleback and the eighth example known across teleosts. We discuss this convergence in the context of sex chromosome turnovers and the role that the Amh/AmhrII pathway, which is crucial for sex determination, may play in the evolution of sex chromosomes in teleosts.
性染色体在生命之树上的年龄和分化水平差异很大。这种差异在很大程度上是由于不同谱系中性染色体更替的速度不同;然而,我们仍然缺乏解释为什么性染色体在某些谱系中如此保守(例如哺乳动物、鸟类),而在其他谱系中如此不稳定(例如硬骨鱼、两栖类)的原因。为了确定驱动性别决定系统转变的一般机制或有利于其保守性的力量,我们首先需要来自多个谱系的关于性染色体系统的经验数据。棘鱼是研究性染色体进化的一个有价值的模式谱系,因为在密切相关的物种之间存在性染色体系统的变异。在这里,我们确定了布鲁克棘鱼 Culaea inconstans 的性染色体和一个主要性别决定基因的强候选基因。通过对野生捕获样本和实验室杂交的全基因组测序,我们确定了 AmhY,即 Amh 基因的一个雄性特异性重复,是候选的主要性别决定基因。AmhY 位于 C. inconstans 的第 20 号染色体上,可能是最近的复制,因为 AmhY 和第 20 号染色体的性连锁区域显示出很少的序列差异。重要的是,这个重复的 AmhY 代表了棘鱼中 Amh 作为性别决定基因的第二个独立重复和招募,也是硬骨鱼类中已知的第八个例子。我们将这一趋同现象置于性染色体更替的背景下,并讨论了 Amh/AmhrII 途径在性染色体进化中的作用,该途径对性别决定至关重要。