CLONING AND CHARACTERIZATION OF SOX5, A NEW MEMBER OF THE HUMAN SOX GENE FAMILY

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 gene s sharing a high similarity with the SRY HMG box and named Sox (Sry-re lated HMG box) in mouse and SOX in human has been identified from vari ous organisms. We have cloned SOX5, a new member of the human SOX gene family. SOX5 cDNAs isolated from a human adult testis cDNA library sh ow a high similarity with the mouse Sox5 transcript over a large regio n identical in all the human cDNAs. However, comparison of the 5' uniq ue sequences of the cDNAs suggests that the SOX5 gene is subject to al ternative splicing. Genomic analysis identified a SOX5 pseudogene loca ted 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 h uman SOX5 gene is expressed ill a variety of human tissues, and differ ent size transcripts are observed in adult testis and fetal brain. (C) 1996 Academic Press, Inc.