PMID- 10192385
OWN - NLM
STAT- MEDLINE
DCOM- 19990426
LR  - 20101118
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 21
IP  - 4
DP  - 1999 Apr
TI  - A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a
      nonsyndromic form of deafness.
PG  - 363-9
AB  - Using a candidate gene approach, we identified a novel human gene, OTOF,
      underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The
      same nonsense mutation was detected in four unrelated affected families of
      Lebanese origin. OTOF is the second member of a mammalian gene family related to 
      Caenorhabditis elegans fer-1. It encodes a predicted cytosolic protein (of 1,230 
      aa) with three C2 domains and a single carboxy-terminal transmembrane domain. The
      sequence homologies and predicted structure of otoferlin, the protein encoded by 
      OTOF, suggest its involvement in vesicle membrane fusion. In the inner ear, the
      expression of the orthologous mouse gene, mainly in the sensory hair cells,
      indicates that such a role could apply to synaptic vesicles.
FAU - Yasunaga, S
AU  - Yasunaga S
AD  - Unite de Genetique des Deficits Sensoriels, CNRS URA 1968, Institut Pasteur,
      Paris, France.
FAU - Grati, M
AU  - Grati M
FAU - Cohen-Salmon, M
AU  - Cohen-Salmon M
FAU - El-Amraoui, A
AU  - El-Amraoui A
FAU - Mustapha, M
AU  - Mustapha M
FAU - Salem, N
AU  - Salem N
FAU - El-Zir, E
AU  - El-Zir E
FAU - Loiselet, J
AU  - Loiselet J
FAU - Petit, C
AU  - Petit C
LA  - eng
SI  - GENBANK/AF107403
SI  - GENBANK/H71264
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Caenorhabditis elegans Proteins)
RN  - 0 (FER-1 protein, C elegans)
RN  - 0 (Genetic Markers)
RN  - 0 (Helminth Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (OTOF protein, human)
SB  - IM
CIN - Nat Genet. 1999 Apr;21(4):347-9. PMID: 10192378
MH  - Amino Acid Sequence
MH  - Animals
MH  - *Caenorhabditis elegans Proteins
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - Deafness/*genetics
MH  - Ear, Inner/metabolism
MH  - Female
MH  - Gene Expression
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Helminth Proteins/genetics
MH  - Humans
MH  - Membrane Proteins/*genetics/metabolism
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
MH  - Sequence Homology, Amino Acid
EDAT- 1999/04/07 02:01
MHDA- 2001/03/23 10:01
CRDT- 1999/04/07 02:01
PHST- 1999/04/07 02:01 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/04/07 02:01 [entrez]
AID - 10.1038/7693 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693.