GTF2IRD1 in craniofacial development of humans and mice

Tassabehji, May, Hammond, Peter, Karmiloff-Smith, Annette, Thompson, Pamela, Thorgeirsson, Snorri S, Durkin, Marian E, Popescu, Nicholas C, Hutton, Timothy, Metcalfe, Kay, Rucka, Agnes, Stewart, Helen, Read, Andrew P, Maconochie, Mark and Donnai, Dian (2005) GTF2IRD1 in craniofacial development of humans and mice. Science, 310 (5751). pp. 1184-1187. ISSN 0036-8075

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Abstract

Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders

Item Type: Article
Additional Information: On this collaboration, my contribution was to generate the transgenic mice, carry out some of the analyses, as well as contributing towards to the experimental design, in preparing the manuscript with the lead author and responding to review.
Schools and Departments: School of Life Sciences > Neuroscience
Depositing User: Mark Maconochie
Date Deposited: 12 Feb 2013 14:53
Last Modified: 12 Feb 2013 14:53
URI: http://sro.sussex.ac.uk/id/eprint/24304
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