TY - JOUR
T1 - Cloning of mitf, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3
AU - Tachibana, Masayoshl
AU - Perez-jurado, Luis A.
AU - Nakayama, Atsuo
AU - Hodgkinson, Colin A.
AU - Li, Xu
AU - Schneider, Mark
AU - Miki, Toru
AU - Fex, Jören
AU - Francke, Uta
AU - Amheiter, Heinz
PY - 1994/4/1
Y1 - 1994/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028209856&partnerID=8YFLogxK
U2 - 10.1093/hmg/3.4.553
DO - 10.1093/hmg/3.4.553
M3 - Article
C2 - 8069297
AN - SCOPUS:0028209856
VL - 3
SP - 553
EP - 557
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 4
ER -