Original Investigation

Human Genetics

, Volume 106, Issue 4, pp 432-439

First online:

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

  • Murray HargraveAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia
  • , Kristy JamesAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia
  • , Kerry NieldAffiliated withSchool of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK
  • , Carmel ToomesAffiliated withSchool of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK
  • , Kylie GeorgasAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia
  • , Timothy SullivanAffiliated withThe Eyelid, Lacrimal and Orbital Clinic, Royal Children's Hospital, Brisbane, 4029, Australia
  • , Harriet T. F. M. VerzijlAffiliated withDepartment of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
  • , Christine A. OleyAffiliated withQueensland Clinical Genetics Service, Royal Children's Hospital, Herston, 4029, Australia
  • , Melissa LittleAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia
    • , Peter De JongheAffiliated withFlanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerp, Belgium
    • , Jennifer M. KwonAffiliated withDepartment of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, St. Louis, MO 63110, USA
    • , Hannie KremerAffiliated withDepartment of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    • , Michael J. DixonAffiliated withSchool of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK
    • , Vincent TimmermanAffiliated withFlanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerp, Belgium
    • , Toshiya YamadaAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia
    • , Peter KoopmanAffiliated withCentre for Molecular and Cellular Biology, The University of Queensland, Brisbane, 4072, Australia

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Abstract.

Members of the Sox gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the expression of these genes in a population of ventral interneurons in the embryonic spinal cord. We report here the cloning and sequencing of the human orthologue of Sox14. Human SOX14 shows remarkable sequence conservation compared with orthologues from other vertebrate species and probably mirrors the expression of these genes in the developing brain and spinal cord. Using radiation hybrid mapping and fluorescence in situ hybridisation, we have localised SOX14 close to the sequence tagged site D3S1576 on human chromosome 3q23. Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Möbius syndrome type 2 (MBS2). We have found that SOX14 is unlikely to be involved in any of these disorders because of the position of SOX14 proximal to a BPES breakpoint and the lack of SOX14 coding region alterations in BPES, CMT2B and MBS2 patients.