Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A human unconventional myosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3. MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.
Wang
A
A
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
Liang
Y
Y
Fridell
R A
RA
Probst
F J
FJ
Wilcox
E R
ER
Touchman
J W
JW
Morton
C C
CC
Morell
R J
RJ
Noben-Trauth
K
K
Camper
S A
SA
Friedman
T B
TB
D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003051:Cochlea / Q000196:embryology / Q000378:metabolism; D003360:Cosmids; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005091:Exons; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009218:Myosins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D017354:Point Mutation; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
D009218:Myosins