Wunderle V M, Critcher R, Ashworth A, Goodfellow P N
Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, United Kingdom.
Genomics. 1996 Sep 1;36(2):354-8. doi: 10.1006/geno.1996.0474.
The mammalian Y-linked testis determining gene, SRY, encodes a protein with a DNA binding motif known as the HMG box. A large family of genes sharing a high similarity with the SRY HMG box and named Sox (Sry-related HMG box) in mouse and SOX in human has been identified from various organisms. We have cloned SOX5, a new member of the human SOX gene family. SOX5 cDNAs isolated from a human adult testis cDNA library show a high similarity with the mouse Sox5 transcript over a large region identical in all the human cDNAs. However, comparison of the 5' unique sequences of the cDNAs suggests that the SOX5 gene is subject to alternative splicing. Genomic analysis identified a SOX5 pseudogene located on 8q21.1, whereas the SOX5 gene itself, which contains a minimum of five introns, maps to 12p12.1. In contrast to the mouse gene, the human SOX5 gene is expressed in a variety of human tissues, and different size transcripts are observed in adult testis and fetal brain.
哺乳动物的Y染色体上的睾丸决定基因SRY编码一种具有DNA结合基序的蛋白质，该基序被称为HMG盒。已经从各种生物体中鉴定出一个与SRY HMG盒高度相似的基因大家族，在小鼠中称为Sox（Sry相关HMG盒），在人类中称为SOX。我们克隆了人类SOX基因家族的一个新成员SOX5。从人类成人睾丸cDNA文库中分离出的SOX5 cDNA在所有人类cDNA相同的大片区域内与小鼠Sox5转录本高度相似。然而，对cDNA 5'端独特序列的比较表明，SOX5基因存在可变剪接。基因组分析确定了一个位于8q21.1的SOX5假基因，而SOX5基因本身至少包含五个内含子，定位于12p12.1。与小鼠基因不同，人类SOX5基因在多种人类组织中表达，并且在成人睾丸和胎儿大脑中观察到不同大小的转录本。
