DMY is a Y-specific DM-domain gene required for male development in the medaka fish
DMY is a Y-specific DM-domain gene required for male development in the medaka fish
复制标题
DOI：
10.1038/nature751
复制
发表时间：
2002-05-30
期刊：
影响因子：
64.8
通讯作者：
Sakaizumi, M
中科院分区：
文献类型：
--
作者：
Matsuda, M;Nagahama, Y;Sakaizumi, M
尽管性别决定基因 Sry 已在哺乳动物中被发现(1)，但在非哺乳动物脊椎动物中尚未发现类似的基因。在这里，我们使用重组断点分析将青鳉鱼 (Oryzias latipes) 的性别决定区域限制在 Y 染色体的 530 千碱基 (kb) 区域。对同源 XY 雌性的 Y 染色体进行删除分析，进一步将该区域缩短至 250 kb。该区域的鸟枪法测序预测出 27 个基因。其中三个基因在性分化过程中表达。然而，只有 DM 相关 (2) PG17 具有 Y 特异性；因此我们将其命名为 DMY。两种自然发生的突变确立了 DMY 在男性发育中的关键作用。第一个可遗传突变体——外显子 3 中的单个插入和随后的 DMY 截断——产生了所有 XY 雌性后代。同样，第二个 XY 突变雌性表现出 DMY 表达降低，且 XY 雌性后代比例较高。在正常发育过程中，DMY 仅在 XY 性腺的体细胞中表达。这些发现强烈表明，性别特异性 DMY 是睾丸发育所必需的，并且是青鳉性别决定基因的主要候选基因。
Although the sex-determining gene Sry has been identified in mammals(1), no comparable genes have been found in non-mammalian vertebrates. Here, we used recombinant breakpoint analysis to restrict the sex-determining region in medaka fish (Oryzias latipes) to a 530-kilobase (kb) stretch of the Y chromosome. Deletion analysis of the Y chromosome of a congenic XY female further shortened the region to 250 kb. Shotgun sequencing of this region predicted 27 genes. Three of these genes were expressed during sexual differentiation. However, only the DM-related(2) PG17 was Y specific; we thus named it DMY. Two naturally occurring mutations establish DMY's critical role in male development. The first heritable mutant-a single insertion in exon 3 and the subsequent truncation of DMY-resulted in all XY female offspring. Similarly, the second XY mutant female showed reduced DMY expression with a high proportion of XY female offspring. During normal development, DMY is expressed only in somatic cells of XY gonads. These findings strongly suggest that the sex-specific DMY is required for testicular development and is a prime candidate for the medaka sex-determining gene.