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Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia

Lookup NU author(s): Dr Karen Piper Hanley, Dr Stephen Ball, Dr Neil Hanley


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Haploinsufficiency of SOX9, which encodes a homeodomain transcription factor, results in Campomelic dysplasia. Classical features of this disorder (e.g. skeletal dysplasia and 46,XY sex reversal) are in concordance with SOX9 expression profiles during human embryonic development. We report the robust expression of SOX9 throughout the pancreas during human embryogenesis, at levels of detection equivalent to the developing skeleton and testis. In the early foetal period, SOX9 expression declines and, in particular, is not apparent within the pancreatic islets. In keeping with this profile, examination of three cases with Campomelic dysplasia revealed abnormal pancreatic morphology. Epithelial cells were less densely packed within the mesenchymal stroma and islets less clearly formed with variable expression of hormone and β cell markers. Taken together, these data indicate a novel potential role for SOX9 in pancreas development during human embryogenesis and early foetal life. © 2002 Elsevier Science Ireland Ltd. All rights reserved.

Publication metadata

Author(s): Piper K, Ball SG, Keeling JW, Mansoor S, Wilson DI, Hanley NA

Publication type: Article

Publication status: Published

Journal: Mechanisms of Development

Year: 2002

Volume: 116

Issue: 1-2

Pages: 223-226

Print publication date: 01/01/2002

ISSN (print): 0925-4773

ISSN (electronic): 1872-6356

Publisher: Elsevier


DOI: 10.1016/S0925-4773(02)00145-4

PubMed id: 12128229


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Funder referenceFunder name
G9826762Medical Research Council