| First Author | Tassabehji M | Year | 2005 |
| Journal | Science | Volume | 310 |
| Issue | 5751 | Pages | 1184-7 |
| PubMed ID | 16293761 | Mgi Jnum | J:102709 |
| Mgi Id | MGI:3607961 | Doi | 10.1126/science.1116142 |
| Citation | Tassabehji M, et al. (2005) GTF2IRD1 in craniofacial development of humans and mice. Science 310(5751):1184-7 |
| abstractText | 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. |
