The University of Southampton
University of Southampton Institutional Repository

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

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.

Full text not available from this repository.

Citation

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).

More information

Published date: August 2002

Identifiers

Local EPrints ID: 24903
URI: http://eprints.soton.ac.uk/id/eprint/24903
ISSN: 0925-4773
PURE UUID: 3f609d23-9d3e-4974-b07b-0b18e30484a1

Catalogue record

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

Export record

Altmetrics

Contributors

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

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×