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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Tassabehji, M. et al.

Tassabehji, Hammond, Karmiloff-Smith, Thompson, Thorgeirsson, Durkin, Popescu, Hutton, Metcalfe, Rucka, Stewart, Read, Maconochie, Donnai,

GTF2IRD1 in craniofacial development of humans and mice.

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.[1]

References

GTF2IRD1 in craniofacial development of humans and mice. Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S.S., Durkin, M.E., Popescu, N.C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A.P., Maconochie, M., Donnai, D. Science (2005) [Pubmed]

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