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), 223-226. (doi:10.1016/S0925-4773(02)00145-4).

Download

Full text not available from this repository.

Description/Abstract

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.

Item Type: Article
ISSNs: 0925-4773 (print)
Related URLs:
Subjects: R Medicine > RB Pathology
R Medicine > RG Gynecology and obstetrics
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 24903
Date Deposited: 06 Apr 2006
Last Modified: 27 Mar 2014 18:14
URI: http://eprints.soton.ac.uk/id/eprint/24903

Actions (login required)

View Item View Item