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Nucleic Acids Research, 2000, Vol. 28, No. 6 1473-1480
© 2000 Oxford University Press

Cloning and characterisation of the Sry-related transcription factor gene Sox8

Goslik E. Schepers, Monica Bullejos, Brett M. Hosking and Peter Koopman*

Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Queensland 4072, Australia

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.

* To whom correspondence should be addressed. Tel: +61 7 3365 4491; Fax: +61 7 3365 4388; Email: p.koopman@cmcb.uq.edu.au


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