Mapping and cloning hereditary deafness genes.
In the past two years, considerable progress has been made in the mapping and cloning of human deafness genes. Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the cloning of an X-linked deafness gene, DFN3, and the Usher syndrome type IB gene. This last gene encodes a myosin-like protein and was identified as the human homolog of the mouse shaker-1 gene. The DFN3 gene Brain 4 encodes a POU domain containing transcription factor that is involved in the development of the inner ear.
Cremers
F P
FP
Department of Human Genetics, University Hospital Nijimegen, The Netherlands.
Bitner-Glindzicz
M
M
Pembrey
M E
ME
Ropers
H H
HH
D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000235:genetics; D014960:X Chromosome
D004272:DNA, Mitochondrial