title: SOX3 is an X-linked gene related to SRY.
abstract: The mammalian 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 IX 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-linked mental retardation syndrome.
authors.affiliation: Department of Genetics, Cambridge University, UK.
authors.forename: M
authors.initials: M
authors.lastname: Stevanović
authors.forename: R
authors.initials: R
authors.lastname: Lovell-Badge
authors.forename: J
authors.initials: J
authors.lastname: Collignon
authors.forename: P N
authors.initials: PN
authors.lastname: Goodfellow
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006609:High Mobility Group Proteins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051741:Kruppel-Like Transcription Factors; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D009928:Organ Specificity; D016133:Polymerase Chain Reaction; D055748:SOXB1 Transcription Factors; D017386:Sequence Homology, Amino Acid; D012732:Sex Determination Analysis; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D051741:Kruppel-Like Transcription Factors; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; C527786:Sox3 protein, mouse; D014157:Transcription Factors; C054430:ZFY protein, human