Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R
Division of Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London, UK.
Nat Genet. 1996 Sep;14(1):62-8. doi: 10.1038/ng0996-62.
Heterozygous mutations in SOX9 lead to a human dwarfism syndrome, Campomelic dysplasia. Consistent with a role in sex determination, we find that Sox9 expression closely follows differentiation of Sertoli cells in the mouse testis, in experimental sex reversal when fetal ovaries are grafted to adult kidneys and in the chick where there is no evidence for a Sry gene. Our results imply that Sox9 plays an essential role in sex determination, possibly immediately downstream of Sry in mammals, and that it functions as a critical Sertoli cell differentiation factor, perhaps in all vertebrates.
SOX9基因的杂合突变会导致一种人类侏儒症综合征——弯肢发育异常。与性别决定中的作用一致，我们发现，在小鼠睾丸中，Sox9的表达与支持细胞的分化密切相关；在将胎儿卵巢移植到成年肾脏的实验性性逆转中以及在没有Sry基因证据的鸡中也是如此。我们的结果表明，Sox9在性别决定中起着至关重要的作用，在哺乳动物中可能直接位于Sry下游，并且它作为一种关键的支持细胞分化因子发挥作用，可能在所有脊椎动物中都是如此。
