A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis.
A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis.
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DOI：
10.1371/journal.pgen.1009705
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发表时间：
2021-08
期刊：
影响因子：
4.5
通讯作者：
Sakamoto T
中科院分区：
文献类型：
--
作者：
Nakamoto M;Uchino T;Koshimizu E;Kuchiishi Y;Sekiguchi R;Wang L;Sudo R;Endo M;Guiguen Y;Schartl M;Postlethwait JH;Sakamoto T
全基因组复制和基因组压缩被认为在硬骨鱼的进化中发挥了重要作用。石首鱼(Plecoglossus Altivelis)隶属于石龙目口亚目。Stomiati在系统发育上被归类为Neotelestei的姐妹类群。因此，阿育在生命之树上占有重要的地位。虽然野鱼对日本的食品业和休闲渔业具有重要的经济意义，但可用于该物种的基因组资源很少。为了解决这个问题，我们通过全基因组鸟枪测序产生了AYU的基因组草稿序列，并使用基因分型-测序的方法构建了连锁图谱。对AYU和其他硬骨鱼的共线分析提供了关于口亚纲、原棘鳍亚纲和新骨亚纲分化过程中染色体重排的信息。Ayu基因组的大小表明基因组紧凑发生在Osmeridae科的分化之后。Ayu拥有XX/XY性别决定系统，我们通过对野生种群进行基因分型和全基因组重测序，通过全基因组关联研究确定了性别相关基因座。使用野生阿育种群的全基因组关联图谱显示了三个与性别相关的支架(总共2.03Mb)。比较男性和女性之间的全基因组重测序图谱复盖率，确定了性别相关支架中的男性特定区域。在这些男性特异性区域中发现了抗苗勒氏激素II型受体基因(Amhr2bY)的重复拷贝，与amhr2的常染色体拷贝不同。Y连锁的amhr2基因在未分化性腺生殖细胞周围的sox9b阳性体细胞中的表达是男性特有的，而常染色体amhr2转录本在遗传男性和雌性的性未分化性腺的体细胞中均可检测到。Amhr2bY功能缺失突变导致男性向女性性别逆转。结合已知的AMH和Amhr2在性别分化中的作用，这些结果表明，amhr2在ayu Y染色体上的平行序列决定了遗传性别，而雄性特有的AMH-amhr2途径对ayu的睾丸分化至关重要。香鱼(Plecoglossus Altivelis)是一种广泛分布于东亚的鱼类。Ayu属于超目Stomiati和桂形目。Stomiati在系统发育上被归类为Neotelestei的姐妹群，Neotelebone是包括青竹、金枪鱼和鳕鱼在内的最大的骨鱼分支。据估计，原蝶类(鲑鱼和梭鱼)与口亚纲和新骨纲的共同祖先的分化大约发生在1.9亿年前。因此，阿育在生命之树上占有重要的地位。我们对阿育的基因组进行了测序，并使用逐个测序的基因分型方法构建了连锁图谱。通过对阿育、青竹和北方狗鱼的比较分析，揭示了阿育和北方狗鱼分化后，阿育人血统中的染色体重排。关联图谱显示，抗苗勒氏激素II型受体基因(Amhr2bY)的重复拷贝位于男性特有区域。Y连锁的amhr2在未分化性腺的支持细胞中的表达是男性特有的，而常染色体的amhr2转录本在性未分化性腺的体细胞中检测到。Amhr2bY引起的男性到女性性反转的功能丧失突变。综上所述，这些结果表明，Y染色体上amhr2的平行对数决定了遗传性别。我们的发现支持这一假说，即雄性特有的AMH-amhr2通路对阿育幼虫的性腺分化至关重要。
Whole-genome duplication and genome compaction are thought to have played important roles in teleost fish evolution. Ayu (or sweetfish), Plecoglossus altivelis, belongs to the superorder Stomiati, order Osmeriformes. Stomiati is phylogenetically classified as sister taxa of Neoteleostei. Thus, ayu holds an important position in the fish tree of life. Although ayu is economically important for the food industry and recreational fishing in Japan, few genomic resources are available for this species. To address this problem, we produced a draft genome sequence of ayu by whole-genome shotgun sequencing and constructed linkage maps using a genotyping-by-sequencing approach. Syntenic analyses of ayu and other teleost fish provided information about chromosomal rearrangements during the divergence of Stomiati, Protacanthopterygii and Neoteleostei. The size of the ayu genome indicates that genome compaction occurred after the divergence of the family Osmeridae. Ayu has an XX/XY sex-determination system for which we identified sex-associated loci by a genome-wide association study by genotyping-by-sequencing and whole-genome resequencing using wild populations. Genome-wide association mapping using wild ayu populations revealed three sex-linked scaffolds (total, 2.03 Mb). Comparison of whole-genome resequencing mapping coverage between males and females identified male-specific regions in sex-linked scaffolds. A duplicate copy of the anti-Müllerian hormone type-II receptor gene (amhr2bY) was found within these male-specific regions, distinct from the autosomal copy of amhr2. Expression of the Y-linked amhr2 gene was male-specific in sox9b-positive somatic cells surrounding germ cells in undifferentiated gonads, whereas autosomal amhr2 transcripts were detected in somatic cells in sexually undifferentiated gonads of both genetic males and females. Loss-of-function mutation for amhr2bY induced male to female sex reversal. Taken together with the known role of Amh and Amhr2 in sex differentiation, these results indicate that the paralog of amhr2 on the ayu Y chromosome determines genetic sex, and the male-specific amh-amhr2 pathway is critical for testicular differentiation in ayu. Ayu (or sweetfish), Plecoglossus altivelis, is widely distributed in East Asia. Ayu belongs to the superorder Stomiati and the order Osmeriformes. Stomiati is phylogenetically classified as sister group of Neoteleostei, the largest clade of bony fish including medaka, tuna and cod. The divergence of Protacanthopterygii (salmon and pike) and the common ancestor of Stomiati and Neoteleostei is estimated to have occurred approximately 190 million years ago. Thus, ayu holds an important position in the fish tree of life. We sequenced the ayu genome and constructed linkage maps using a genotyping-by-sequencing approach. Comparative analyses of ayu, medaka and northern pike revealed chromosomal rearrangements in the ayu lineage after the divergence of ayu and northern pike. Association mapping revealed a duplicate copy of the anti-Müllerian hormone type-II receptor gene (amhr2bY) located within a male-specific region. Y-linked amhr2 expression was male-specific in supporting cells in undifferentiated gonads, whereas autosomal amhr2 transcripts were detected in somatic cells of sexually undifferentiated gonads in both. Loss-of-function mutation for amhr2bY induced male-to-female sex reversal. Taken together, these results indicate that the paralog of amhr2 on the Y chromosome determines genetic sex. Our findings support the hypothesis that the male-specific amh-amhr2 pathway is critical for gonadal differentiation in ayu.
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