Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1
复制标题
DOI：
10.1006/geno.2001.6615
复制
发表时间：
2001-09-01
期刊：
影响因子：
4.4
通讯作者：
Schartl, M
中科院分区：
文献类型：
--
作者：
Brunner, B;Hornung, U;Schartl, M
果蝇和秀丽隐杆线虫的mAb-3基因在人类中是保守的。它们由DNA结合同源基序DM结构域识别，并构成基因家族（DMRTs）。与无脊椎动物基因不同，其在性别决定过程中的作用基本上是了解的，不同脊椎动物DMRT基因的功能并不清楚。已经积累了DMRT 1参与男性性别决定和分化的证据。DMRT 2（在斑马鱼中称为terra）似乎是体节发生的关键因子。为了有助于更好地了解这个重要基因家族的功能，我们分析了基因组模式生物Digit rubripes和青鳕（遗传学和功能研究的互补模式生物）的DMRT 1、DMRT 2和DMRT 3。我们在F.红鳍金枪鱼和相同的基因簇组织的DMRTs在这两种鱼。虽然青鳉的表达分析和基因连锁图谱排除了这三个基因中任何一个在雄性性别决定的初级阶段的功能，但比较F。rubripes和人类序列揭示了三个可能在性别决定和人类XY性逆转的下游事件中起作用的假定调节区域。
Genes related to the Drosophila melanogaster doublesex and Caenorhabditis elegans mab-3 genes are conserved in human. They are identified by a DNA-binding homology motif, the DM domain, and constitute a gene family (DMRTs). Unlike the invertebrate genes, whose role in the sex-determination process is essentially understood, the function of the different vertebrate DMRT genes is not as clear. Evidence has accumulated for the involvement of DMRT1 in male sex determination and differentiation. DMRT2 (known as terra in zebrafish) seems to be a critical factor for somitogenesis. To contribute to a better understanding of the function of this important gene family, we have analyzed DMRT1, DMRT2, and DMRT3 from the genome model organism Digit rubripes and the medakafish, a complementary model organism for genetics and functional studies. We found conservation of synteny of human chromosome 9 in F. rubripes and an identical gene cluster organization of the DMRTs in both fish. Although expression analysis and gene linkage mapping in medaka exclude a function for any of the three genes in the primary step of male sex determination, comparison of F. rubripes and human sequences uncovered three putative regulatory regions that might have a role in more downstream events of sex determination and human XY sex reversal.