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Complete Sequencing Shows A Role For Msx1 In Non-Syndromic Cleft Lip And Palate, P. A. Jezewski, A. R. Vieira, C. Nishimura, B. Ludwig, M. Johnson, S. E. O'Brien, Sandra Daack-Hirsch, R. E. Schultz, A. Weber, B. Nepomucena, P. A. Romitti, K. Christensen, I. M. Orioli, E. E. Castilla, J. Machida, N. Natsume, J. C. Murray
Complete Sequencing Shows A Role For Msx1 In Non-Syndromic Cleft Lip And Palate, P. A. Jezewski, A. R. Vieira, C. Nishimura, B. Ludwig, M. Johnson, S. E. O'Brien, Sandra Daack-Hirsch, R. E. Schultz, A. Weber, B. Nepomucena, P. A. Romitti, K. Christensen, I. M. Orioli, E. E. Castilla, J. Machida, N. Natsume, J. C. Murray
Sandra Daack-Hirsch
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and …