Lim H N, Hawkins J R
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, UK.
Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):1-16. doi: 10.1016/s0950-351x(98)80410-2.
The study of naturally occurring mutations in humans and induced mutations in mice that cause sex reversal has been instrumental in the cloning and functional analysis of genes involved in gonadal differentiation. Several genes required for this complex developmental process have now been identified. The genes LIM1, WT1 and FTZ-F1 have been demonstrated to be involved in the formation of the gonads prior to their differentiation as testes or ovaries. Subsequent sex-specific gonadal differentiation appears to be mediated by the SRY and SOX9 genes in the testis, and the DAX-1 gene in the ovary.
对导致性反转的人类自然发生突变和小鼠诱导突变的研究，在参与性腺分化的基因克隆和功能分析中发挥了重要作用。现在已经确定了这个复杂发育过程所需的几个基因。基因LIM1、WT1和FTZ-F1已被证明在性腺分化为睾丸或卵巢之前参与性腺的形成。随后睾丸中的性别特异性性腺分化似乎由SRY和SOX9基因介导，而卵巢中的则由DAX-1基因介导。
