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PMID: 10684944 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nucleic acids research ·Vol. 28 ·No. 6 ·2000-03-15 ·Pages 1473-80

Schepers GE, Bullejos M, Hosking BM, Koopman P

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.

MeSH Terms
Amino Acid Sequence Animals Chromosomes, Human, Pair 16/genetics Cloning, Molecular DNA/genetics,metabolism DNA-Binding Proteins/chemistry,genetics,metabolism Embryo, Mammalian/metabolism Exons/genetics Gene Expression Profiling Gene Expression Regulation, Developmental/genetics High Mobility Group Proteins/chemistry,genetics Humans Introns/genetics Mice Molecular Sequence Data Nuclear Proteins Physical Chromosome Mapping RNA, Messenger/analysis,genetics Response Elements/genetics SOX9 Transcription Factor SOXE Transcription Factors Sequence Alignment Sex-Determining Region Y Protein Syndrome Transcription Factors/chemistry,genetics,metabolism Transcriptional Activation/genetics
Chemicals
DNA-Binding Proteins High Mobility Group Proteins Nuclear Proteins RNA, Messenger SOX10 protein, human SOX8 protein, human SOX9 Transcription Factor SOX9 protein, human SOXE Transcription Factors SRY protein, human Sex-Determining Region Y Protein Sox10 protein, mouse Sox8 protein, mouse Sox9 protein, mouse Sry protein, mouse Transcription Factors DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Schepers G E
Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Queensland 4072, Australia.
Bullejos M
Hosking B M
Koopman P
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
1362-4962
DOI
10.1093/nar/28.6.1473
Published
2000-03-15
Pages
1473-80
Language
English
Region
England
NLM ID
0411011
PMCID
PMC111037
Subset
IM
Databases
GENBANK
AF191325
External Links
PubMed source DOI: 10.1093/nar/28.6.1473 PMC Full Text View journal details
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