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© 1993 Oxford University Press

RESEARCH-ARTICLE

SOX3 is an X-linked gene related to SRY

Milena Stevanovlc*, Robin Lovell-Badge1, Jér{ring}me Collignon1 and Peter N. Goodfellow

Department of Genetics, Cambridge University, Downing Street Cambridge CB2 3EH 1Laboratory of Eukaryotic Molecular Genetics, MRC National Institute of Medical Research The Ridgeway, Mill Hill, London NW7 1AA, UK

*To whom correspondence should be addressed

Received August 19, 1993; Revised September 27, 1993; Accepted September 27, 1993

The mammallan genome contains a family of genes that are related to SRY, the mammalian sex determining gene. The homology is restricted to the region of SRY that encodes a DNA binding motif of the HMG-box class. These genes have been named SOX genes (SRY-related HMG-box genes). We have cloned and characterised SOX3, a member of the human SOX gene family. SOX3 maps to the X chromosome in the region Xq26–27. A mentally retarded male patient with haemophilia B Is deleted for both the Factor lX gene and SOX3. This suggests that SOX3 Is not essential for testis formation. The phenotype of the patient and the expression of SOX3 gene in neuronal tissues raises the possibility that this gene is a candidate gene for Borjeson-Forssman-Lehmann, an X-llnked mental retardation syndrome.


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