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Sox基因是一类与SRY基因紧密相关的编码转录因子的基因家族,其产物具有一个HMG基序保守区并参与多种发育过程的调控,编码蛋白可与DNA序列特异结合。在人类,Sox基因的缺失或突变可导致发育异常和严重的先天性疾病。如人类Sox9突变可引起CD综合征和性反转,Sox10突变与Waardenburg综合征(WS)等。本文综述了近年来Sox基因突变及异常表达与疾病发生关系的研究。
Sox genes are a family of genes encoding transcription factors closely related to the SRY gene. Their products have a conserved region of HMG motifs and are involved in the regulation of various developmental processes. Sox genes specifically bind to DNA sequences. In humans, the deletion or mutation of the Sox gene can lead to dysplasia and serious congenital diseases. Such as human Sox9 mutations can cause CD syndrome and sexual inversion, Sox10 mutation and Waardenburg syndrome (WS). This review summarizes the recent studies on the relationship between Sox gene mutation and abnormal expression and disease.