title: Cloning and characterisation of the Sry-related transcription factor gene Sox8.
abstract: SOX proteins form a large family of transcription factors related by a DNA-binding domain known as the HMG box. Some 30 Sox genes have been identified in mammals and orthologues have been found in a wide range of other metazoans. Sox genes are highly conserved and are known to play important roles in embryonic development, including roles in gonadal, central nervous system, neural crest and skeletal development. Several SOX genes have been implicated in human congenital diseases. We report here the isolation of Sox8 and its characterisation in mice and humans. This gene has a remarkably similar primary structure and genomic organisation to the campomelic dysplasia gene SOX9 and the Waardenburg-Shah syndrome gene SOX10. SOX8 protein is able to bind to canonical SOX target DNA sequences and activate transcription in vitro through two separate trans -activation regions. Further, Sox8 is expressed in the central nervous system, limbs, kidneys, gonads and craniofacial structures during mouse embryo development. Sox8 maps to the t complex on mouse chromosome 17 and to human chromosome 16p13.3, a region associated with the microphthalmia-cataract syndrome CATM and the alpha-thalassemia/mental retardation syndrome ATR-16.
authors.affiliation: Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Queensland 4072, Australia.
authors.forename: G E
authors.initials: GE
authors.lastname: Schepers
authors.forename: M
authors.initials: M
authors.lastname: Bullejos
authors.forename: B M
authors.initials: BM
authors.lastname: Hosking
authors.forename: P
authors.initials: P
authors.lastname: Koopman
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism*; D004622:Embryo, Mammalian / Q000378:metabolism; D005091:Exons / Q000235:genetics; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental / Q000235:genetics; D006609:High Mobility Group Proteins / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D020161:Physical Chromosome Mapping; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020218:Response Elements / Q000235:genetics; D055758:SOX9 Transcription Factor; D055757:SOXE Transcription Factors; D016415:Sequence Alignment; D051876:Sex-Determining Region Y Protein; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D015533:Transcriptional Activation / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; C527923:SOX10 protein, human; C406240:SOX8 protein, human; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D055757:SOXE Transcription Factors; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C527924:Sox10 protein, mouse; C498639:Sox8 protein, mouse; C527933:Sox9 protein, mouse; C497746:Sry protein, mouse; D014157:Transcription Factors; D004247:DNA