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© 1994 Oxford University Press

OTHER

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3

Masayoshl Tachibana, Luis A. Perez-Jurado3, Atsuo Nakayama1, Colin A. Hodgkinson1, Xu Li, Mark Schneider, Toru Miki2, Jo{diaeresis}ren Fex, Uta Francke3 and Heinz Amheiter1,*

Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders 1Laboratory of Viral and Molecular Pathogenesis, National Institute of Neurological Disorders and Stroke 2Laboratory of Cellular and Molecular Biology, National Cancer Institute, National Institutes of Health Bethesda, MD 20892 3Departments of Genetics and Pediatrics and 4Howard Hughes Medical Institute, Stanford University Medical Center Stanford CA 94305, USA

*To whom correspondence should be addressed at: LNMP, NINDS, NIH, Building 36, Room 5D04, 9000 Rockville Pike, Bethesda, MD 20892, USA

Received December 2, 1993; Accepted February 8, 1994

The mouse microphthalmla (ml) gene encodes a basic-helix-loop-helix-zipper protein whose mutations may lead to loss of pigmentation In the eye, inner ear and skin, and to reduced eye size and early onset deafness. Mice with mutations at ml serve as models for human pigment disturbances In skin and eye that may be combined with sensorineural deafness. We have now obtained cDNA and genomic clones of the human homolog of mouse ml, identified a restriction fragment length polymorphism In the gene, and mapped the gene by somatic cell hybrid and fluorescence In situ hybridization techniques to a region of human chromosome 3 that shows a disrupted syntenic conservation with the region on mouse chromosome 6 to which ml maps. These studies will help to verify If any of the hereditary pigment disturbances in humans are due to mutations in this gene.


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