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|Title:||SOX3 is an X-linked gene related to SRY||Authors:||Stevanović, Milena
Goodfellow, Peter N.
|Issue Date:||Dec-1993||Journal:||Human Molecular Genetics||Abstract:||
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. © 1993 Oxford University Press.
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