Harley V R, Jackson D I, Hextall P J, Hawkins J R, Berkovitz G D, Sockanathan S, Lovell-Badge R, Goodfellow P N
Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.
Science. 1992 Jan 24;255(5043):453-6. doi: 10.1126/science.1734522.
The protein encoded by the human testis determining gene, SRY, contains a high mobility group (HMG) box related to that present in the T cell-specific, DNA-binding protein TCF-1. Recombinant SRY protein was able to bind to the same core sequence AACAAAG recognized by TCF-1 in a sequence dependent manner. In five XY females point mutations were found in the region encoding the HMG box. In four cases DNA binding activity of mutant SRY protein was negligible; in the fifth case DNA binding was reduced. These results imply that the DNA binding activity of SRY is required for sex determination.
人类睾丸决定基因SRY编码的蛋白质含有一个高迁移率族(HMG)框,该框与T细胞特异性DNA结合蛋白TCF-1中的HMG框相关。重组SRY蛋白能够以序列依赖的方式结合到TCF-1识别的相同核心序列AACAAAG上。在5名XY女性中,在编码HMG框的区域发现了点突变。在4例中,突变SRY蛋白的DNA结合活性可忽略不计;在第5例中,DNA结合减少。这些结果表明,SRY的DNA结合活性是性别决定所必需的。