Abstract

The objective of the Craniofacial Anomalies Research Center is to identify human genes and other risk factors important in the etiology of craniofacial anomalies, particularly orofacial clefting. This objective will be achieved through four interrelated projects and two cores. Project 1 will expand the Iowa case control study of facial clefts to additional states to obtain a more diverse study population that will be large enough to evaluate the interaction of genetic and environmental causes of cleft lip and palate. Project 2 will identify human genes involved in craniofacial anomalies, including several Mendelian disorders, utilizing modern genetic analytical techniques. Project 3 will identify and characterize novel genes involved in craniofacial development, utilizing a subtracted human fetal craniofacial cDNA library and the differential RNA display approach. Project 4 will study the function of several candidate genes identified in projects 2 and 3 by gene targeting and transgenic mouse technologies. These projects will be supported by a core offering administrative support and a core providing services in molecular biology and the establishment of cell lines from various patients.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Dental & Craniofacial Research (NIDCR)
Type
Specialized Center (P50)
Project #
5P50DE009170-10
Application #
2796458
Study Section
Special Emphasis Panel (ZDE1-YS (11))
Project Start
1989-09-20
Project End
1999-09-29
Budget Start
1998-09-30
Budget End
1999-09-29
Support Year
10
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of Iowa
Department
Biology
Type
Schools of Arts and Sciences
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