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

Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia
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.
0925-4773
223-226
Piper, K.
a05b9b5d-f3af-42f0-8cdf-421b79127a89
Ball, S.G.
001167e7-c620-41a6-b24c-63099ced52c4
Keeling, J.W.
1b3a58c3-6dc7-489f-98e2-b689a8f33c48
Mansoor, S.
6c1378dc-775a-4e77-86ec-38595cf82655
Wilson, D.I.
1500fca1-7082-4271-95f4-691f1d1252a2
Hanley, N.A.
ac5bcdcc-51dd-4f2c-ad06-fef6c1d50ebd
Piper, K.
a05b9b5d-f3af-42f0-8cdf-421b79127a89
Ball, S.G.
001167e7-c620-41a6-b24c-63099ced52c4
Keeling, J.W.
1b3a58c3-6dc7-489f-98e2-b689a8f33c48
Mansoor, S.
6c1378dc-775a-4e77-86ec-38595cf82655
Wilson, D.I.
1500fca1-7082-4271-95f4-691f1d1252a2
Hanley, N.A.
ac5bcdcc-51dd-4f2c-ad06-fef6c1d50ebd

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).

Record type: Article

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 ? 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

Identifiers

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

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Date deposited: 06 Apr 2006
Last modified: 15 Mar 2024 06:59

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Contributors

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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