Email this pageGenetic Basis and Pathogenic Mechanisms of Cleft Lip and/or Cleft Palate
Project Overview
Cleft lip with or without cleft palate is the most common craniofacial birth defect, with a frequency of 1 in 300 to 2,500 infants in different populations. We are using mutant mouse models to investigate the genetic basis and pathogenic mechanisms of cleft lip/palate. We recently positionally cloned the mutant gene causing cleft lip in the Dancer mutant mice (Bush et al., 2004). We are in the process of identifying the genetic basis of cleft lip pathogenesis in the Twirler mutant mice (Liu et al., 2006). We are investigating the molecular and cellular basis of cleft lip pathogenesis in these mutant mouse strains. In addition, recent studies showed that a mutation in the Wnt9b gene is causal to non-syndromic cleft lip in the A strains of mice. We are currently investigating the roles of the Wnt signaling pathway in midfacial development.
Canonical Wnt signaling is actively involved in the regulation of midfacial development (Lan et al., Developmental Dynamics 235:1448-1454, 2006). The blue color staining in this figure shows expression of TopGal, a transgenic reporter that is activated specifically by canonical Wnt signaling, during development of the face in mice (from embryonic day 10.5 to 12.5). lnp, lateral nasal prominence; man, mandible; max, maxilla; mnp, medial nasal prominence. Arrowheads in A point to sites of fusion between the medial nasal and maxillary processes during formation of the upper lip.
Contact
Rulang Jiang
University of Rochester
Box 611
601 Elmwood Ave.
Rochester, NY 14642
Office: MRB G-9633
+585-273-1426
rulang_jiang@urmc.
rochester.edu
