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

Piper, K., Ball, S.G., Keeling, J.W., Mansoor, S., Wilson, D.I. and Hanley, N.A. (2002) Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia Mechanisms of Development, 116, (1-2), pp. 223-226. (doi:10.1016/S0925-4773(02)00145-4).

Record type: Article


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 ? cell markers. Taken together, these data indicate a novel potential role for SOX9 in pancreas development during human embryogenesis and early foetal life.

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Published date: August 2002


Local EPrints ID: 24903
ISSN: 0925-4773
PURE UUID: 3f609d23-9d3e-4974-b07b-0b18e30484a1

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Date deposited: 06 Apr 2006
Last modified: 17 Jul 2017 16:12

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Author: K. Piper
Author: S.G. Ball
Author: J.W. Keeling
Author: S. Mansoor
Author: D.I. Wilson
Author: N.A. Hanley

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