EXPRESSION AND ASSOCIATION DATA STRONGLY SUPPORT JARID2 INVOLVEMENT IN NONSINDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE

Luca Scapoli (1) , Marcella Martinelli (2) , Furio Pezzetti (2) , Annalisa Palmieri (3) , Ambra Girardi (2) , Anna Savoia (4) , Anna Monica Bianco (4) , Francesco Carinci (3)

1 Histology, Embryology and Applied Biology
2 Department of Histology, Embryology and applied Biology
3 Department of D.M.C.C.C., Section of Maxillo-Facial Surgery
4 Università degli studi di Trieste = University of Trieste

Nonsyndromic cleft lip with or without cleft palate (CL/P) affects approximately 1 in 1000 births. Genetic studies have provided evidence for the role of several genes and candidate loci in clefting; however conflicting results have been frequently obtained and much have to be done to unravel the complex genetic of CL/P. In the present investigation we have focused on the candidate region in 6p23, a region that have been found linked to CL/P in several investigations, in the attempt to find out the susceptibility gene provisionally named OFC1. Gene expression experiments in mice embryo of positional candidate genes revealed that JARID2 was highly and specifically expressed in epithelial cells in merging palatal shelves. A family based linkage disequilibrium study confirmed the pivotal role of JARID2 in orofacial development and strongly supports a role for this gene in CL/P etiology (multiallelic haplotype test P = 5x10-5). Understanding the molecular role of JARID2 within palate development may offer additional information to further unravel the complex genetics of CL/P.

Mots clés: Life Sciences

Luca Scapoli, Marcella Martinelli, Furio Pezzetti, Annalisa Palmieri, Ambra Girardi, et al.. EXPRESSION AND ASSOCIATION DATA STRONGLY SUPPORT JARID2 INVOLVEMENT IN NONSINDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE. Human Mutation, 2010, 31 (7), pp.794. ⟨10.1002/humu.21266⟩. ⟨hal-00552388⟩