Prior H M, Walter M A
Ocular Genetics Research Group, University of Alberta, Edmonton, Canada.
Mol Med. 1996 Jul;2(4):405-12.
Development in higher organisms involves complex genetic regulation at the molecular level. The emerging picture of development control includes several families of master regulatory genes which can affect the expression of down-stream target genes in developmental cascade pathways. One new family of such development regulators is the SOX gene family. The SOX genes are named for a shared motif called the SRY box a region homologous to the DNA-binding domain of SRY, the mammalian sex determining gene. Like SRY, SOX genes play important roles in chordate development. At least a dozen human SOX genes have been identified and partially characterized (Tables 1 and 2). Mutations in SOX9 have recently been linked to campomelic dysplasia and autosomal sex reversal, and other SOX genes may also be associated with human disease.
高等生物的发育涉及分子水平上复杂的基因调控。发育控制的新情况包括几个主要调控基因家族，它们可影响发育级联途径中下游靶基因的表达。这类发育调节因子的一个新家族是SOX基因家族。SOX基因因其共享的基序（称为SRY框）而得名，该区域与哺乳动物性别决定基因SRY的DNA结合域同源。与SRY一样，SOX基因在脊索动物发育中起重要作用。至少已鉴定出十几种人类SOX基因并对其进行了部分特征描述（表1和表2）。最近发现SOX9突变与弯肢侏儒症和常染色体性反转有关，其他SOX基因也可能与人类疾病有关。
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