由一个与SRY相关基因的突变所引起的弯肢性发育不良和常染色体性反转。
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
作者信息
Foster J W, Dominguez-Steglich M A, Guioli S, Kwok C, Weller P A, Stevanović M, Weissenbach J, Mansour S, Young I D, Goodfellow P N
机构信息
Department of Genetics, University of Cambridge, UK.
出版信息
Nature. 1994 Dec 8;372(6506):525-30. doi: 10.1038/372525a0.
Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
哺乳动物睾丸发育的诱导需要Y染色体基因SRY的存在。该基因必须通过与性别决定途径中的其他基因相互作用来发挥其作用。从一名患有弯肢侏儒症的性反转患者中克隆出易位染色体断点，随后对相邻基因进行突变分析，结果表明，一种与SRY相关的基因SOX9参与了骨骼形成和睾丸发育的控制。
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