THE SOX10 SOX10 GENE FROM HUMAN AND MOUSE - SEQUENCE, EXPRESSION, ANDTRANSACTIVATION BY THE ENCODED HMG DOMAIN TRANSCRIPTION FACTOR/

SOX genes form a gene family related by homology to the high-mobility group (HMG) box region of the testis-determining gene SRY. We have clo ned and sequenced the SOX10 and Sox10 genes from human and mouse, resp ectively. Both genes encode proteins of 466 amino acids with 98% seque nce identity. Significant expression of the 2.9-kb human SOX10 mRNA is observed in fetal brain and in adult brain, heart, small intestine an d colon. Strong expression of Sox10 occurs throughout the peripheral n ervous system during mouse embryonic development. SOX10 shows an overa ll amino acid sequence identity of 59% to SOX9. Like SOX9, SOX10 has a potent transcription activation domain at its C-terminus and is there fore likely to function as a transcription factor. Whereas SOX9 maps t o 17q, a SOX10 cosmid has previously been mapped by us to the region 2 2q13.1. Mutations in SOX10 have recently been identified as one cause of Waardenburg-Hirschsprung disease in humans, while a Sox10 mutation underlies the mouse mutant Dom, a murine Hirschsprung model.