Nanda I, Zend-Ajusch E, Shan Z, Grützner F, Schartl M, Burt D W, Koehler M, Fowler V M, Goodwin G, Schneider W J, Mizuno S, Dechant G, Haaf T, Schmid M
Department of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.
Cytogenet Cell Genet. 2000;89(1-2):67-78. doi: 10.1159/000015567.
Sex-determination mechanisms in birds and mammals evolved independently for more than 300 million years. Unlike mammals, sex determination in birds operates through a ZZ/ZW sex chromosome system, in which the female is the heterogametic sex. However, the molecular mechanism remains to be elucidated. Comparative gene mapping revealed that several genes on human chromosome 9 (HSA 9) have homologs on the chicken Z chromosome (GGA Z), indicating the common ancestry of large parts of GGA Z and HSA 9. Based on chromosome homology maps, we isolated a Z-linked chicken ortholog of DMRT1, which has been implicated in XY sex reversal in humans. Its location on the avian Z and within the sex-reversal region on HSA 9p suggests that DMRT1 represents an ancestral dosage-sensitive gene for vertebrate sex-determination. Z dosage may be crucial for male sexual differentiation/determination in birds.
鸟类和哺乳动物的性别决定机制已经独立进化了超过3亿年。与哺乳动物不同,鸟类的性别决定是通过ZZ/ZW性染色体系统进行的,其中雌性是异配性别。然而,其分子机制仍有待阐明。比较基因图谱显示,人类9号染色体(HSA 9)上的几个基因在鸡的Z染色体(GGA Z)上有同源物,这表明GGA Z和HSA 9的大部分区域有共同的祖先。基于染色体同源图谱,我们分离出了DMRT1的一个Z连锁鸡直系同源基因,该基因与人类XY性反转有关。它在鸟类Z染色体上的位置以及在HSA 9p性反转区域内的位置表明,DMRT1代表了脊椎动物性别决定的一个祖先剂量敏感基因。Z染色体剂量可能对鸟类雄性性别分化/决定至关重要。