Nature Genetics
12, 130 - 136 (1996)
doi:10.1038/ng0296-130
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndromeThe Treacher Collins Syndrome Collaborative Group, Jill Dixon1,2, Sara J. Edwards1,2, Amanda J. Gladwin1,2, Michael J. Dixon1,2,*, Stacie K. Loftus1,3, Cynthia A. Bonner1,3, Kathryn Koprivnikar 1,3
& John J. Wasmuth1,3
1School of Biological Sciences and Departments of Dental Medicine and Surgery, 3.239, Stopford Building, University of Manchester, Oxford Road, Manchester. M139PTUK Department of Biological Chemistry, College ofMedicine, University of California, Irvine, California 92717 USA
2Group 1
3Group 2
*Correspondence should be addressed to M.J.D. Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32−33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned.
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