Abstract

The major aim of this project is to create mouse genetic mutants for genes which likely play a role in craniofacial development and which may be involved in the etiology of human craniofacial defects. The genes (H6, LD71) have been isolated from a human embryonic craniofacial-specific library (Project 3), and additional genes are being isolated by genetic linkage analysis (Project 2). We will create both loss-of-function (gene knock-out) and gain-of-function (embryonic ectopic expression) genetic mutations in mice using transgenic technologies. These experiments will give direct evidence for the role these genes play in craniofacial development as well as providing mouse models of human disorders. We will also identify the DNA regulatory regions of these genes which control their craniofacial-specific expression during embryogenesis using the LacZ gene as a marker in transgenic mice.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Dental & Craniofacial Research (NIDCR)
Type
Specialized Center (P50)
Project #
5P50DE009170-10
Application #
6104781
Study Section
Project Start
1998-09-30
Project End
1999-09-29
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
10
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of Iowa
Department
Type
DUNS #
041294109
City
Iowa City
State
IA
Country
United States
Zip Code
52242

  Publications

Petrin, Aline L; Daack-Hirsch, Sandra; L'Heureux, Jamie et al. (2011) A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications. Cleft Palate Craniofac J 48:222-30
Rahimov, Fedik; Marazita, Mary L; Visel, Axel et al. (2008) Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40:1341-7
Hjalt, T A; Amendt, B A; Murray, J C (2001) PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome. J Cell Biol 152:545-52
Hjalt, T A; Semina, E V; Amendt, B A et al. (2000) The Pitx2 protein in mouse development. Dev Dyn 218:195-200
Schutte, B C; Bjork, B C; Coppage, K B et al. (2000) A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res 10:81-94
Bauer, E P; Romitti, P A; Reynolds, S J (1999) Evaluation of reports of periconceptual occupational exposure: maternal-assessed versus industrial hygienist-assessed exposure. Am J Ind Med 36:573-8
Schutte, B C; Murray, J C (1999) The many faces and factors of orofacial clefts. Hum Mol Genet 8:1853-9
Amendt, B A; Sutherland, L B; Russo, A F (1999) Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. Mol Cell Biol 19:7001-10
Schutte, B C; Basart, A M; Watanabe, Y et al. (1999) Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. Am J Med Genet 84:145-50
Amendt, B A; Sutherland, L B; Russo, A F (1999) Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site. J Biol Chem 274:11635-42

Showing the most recent 10 out of 51 publications