Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate

Authors

  • Luca Scapoli,

    Corresponding author
    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy
    • Department of Histology, Embryology and Applied Biology, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy
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  • Marcella Martinelli,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy
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  • Furio Pezzetti,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy
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  • Annalisa Palmieri,

    1. Department of D.M.C.C.C., Section of Maxillo-Facial Surgery, University of Ferrara, Corso Giovecca, 203, 44121 Ferrara, Italy
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  • Ambra Girardi,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy
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  • Anna Savoia,

    1. Medical Genetics, Department of Reproductive and Developmental Sciences, IRCCS Burlo Garofolo Hospital, University of Trieste, Via dell'Istria, 65/1, 34137 Trieste, Italy
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  • Anna Monica Bianco,

    1. Medical Genetics, Department of Reproductive and Developmental Sciences, IRCCS Burlo Garofolo Hospital, University of Trieste, Via dell'Istria, 65/1, 34137 Trieste, Italy
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  • Francesco Carinci

    1. Department of D.M.C.C.C., Section of Maxillo-Facial Surgery, University of Ferrara, Corso Giovecca, 203, 44121 Ferrara, Italy
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  • Communicated by Michael Dean

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) affects approximately 1 in 1,000 births. Genetic studies have provided evidence for the role of several genes and candidate loci in clefting; however, conflicting results have frequently been obtained and much have to be done to unravel the complex genetics 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=6×10−5). Understanding the molecular role of JARID2 within facial development may offer additional information to further unravel the complex genetics of CL/P. Hum Mutat 31:1–7, 2010. © 2010 Wiley-Liss, Inc.

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