Genomic characterisation and fine mapping of the human SOX13 gene

Anthony Argentaro, Jane Olsson, Ricky Critcher, Sharon G. McDowall, Vincent R. Harley

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

SOX13 is the member of the SOX (Sry related HMG BOX) family of transcription factors which encodes the type-1 diabetes autoantigen, ICA12, and is expressed in a number of tissues including pancreatic islets and arterial walls. By fluorescence in situ hybridisation, radiation hybrid mapping and YAC analysis we determined that the human SOX13 gene maps to Chromosome 1q31.3-32.1 near the marker D1S504, a region associated with type- 1 diabetes susceptibility and familial dilated cardiomyopathy. Mouse Sox13 maps to the syntenic region near the marker D1Mit57. The human SOX13 gene spans > 15.5kb of genomic DNA and is composed of 14 exons with introns interrupting regions encoding the HMG DNA binding domain and the leucine zipper/glutamine-rich dimerisation domain. Comparison with the mouse Sox13 gene suggests the existence of long and short forms of the SOX13 protein which may arise by differential splicing during different stages in embryogenesis. The high sequence conservation between human SOX13 and mouse, Xenopus and trout orthologues implies a conserved function in vertebrates. SOX13 belongs to SOX Group D members which contain a leucine zipper/glutamine-rich region. Phylogenetic analyses of SOX proteins suggest that such domains were acquired after the initial divergence of groups A to G. (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)181-189
Number of pages9
JournalGene
Volume250
Issue number1-2
DOIs
Publication statusPublished - 30 May 2000
Externally publishedYes

Keywords

  • Chromosome 1
  • Diabetes autoantigen
  • HMG
  • SOX

Cite this

Argentaro, A., Olsson, J., Critcher, R., McDowall, S. G., & Harley, V. R. (2000). Genomic characterisation and fine mapping of the human SOX13 gene. Gene, 250(1-2), 181-189. https://doi.org/10.1016/S0378-1119(00)00157-8