PMID- 10025409
OWN - NLM
STAT- MEDLINE
DCOM- 19990303
LR  - 20190705
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 96
IP  - 3
DP  - 1999 Feb 5
TI  - KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is
      mutated in dominant deafness.
PG  - 437-46
AB  - Potassium channels regulate electrical signaling and the ionic composition of
      biological fluids. Mutations in the three known genes of the KCNQ branch of the
      K+ channel gene family underlie inherited cardiac arrhythmias (in some cases
      associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a
      novel member of this branch. It maps to the DFNA2 locus for a form of
      nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer 
      hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the 
      KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on
      which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1
      cause deafness by affecting endolymph secretion, the mechanism leading to
      KCNQ4-related hearing loss is intrinsic to outer hair cells.
FAU - Kubisch, C
AU  - Kubisch C
AD  - Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Germany.
FAU - Schroeder, B C
AU  - Schroeder BC
FAU - Friedrich, T
AU  - Friedrich T
FAU - Lutjohann, B
AU  - Lutjohann B
FAU - El-Amraoui, A
AU  - El-Amraoui A
FAU - Marlin, S
AU  - Marlin S
FAU - Petit, C
AU  - Petit C
FAU - Jentsch, T J
AU  - Jentsch TJ
LA  - eng
SI  - GENBANK/AF105202
SI  - GENBANK/AF105203
SI  - GENBANK/AF105204
SI  - GENBANK/AF105205
SI  - GENBANK/AF105206
SI  - GENBANK/AF105207
SI  - GENBANK/AF105208
SI  - GENBANK/AF105209
SI  - GENBANK/AF105210
SI  - GENBANK/AF105211
SI  - GENBANK/AF105212
SI  - GENBANK/AF105213
SI  - GENBANK/AF105214
SI  - GENBANK/AF105215
SI  - GENBANK/AF105216
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (DNA, Complementary)
RN  - 0 (KCNQ Potassium Channels)
RN  - 0 (KCNQ4 protein, human)
RN  - 0 (Kcnq4 protein, mouse)
RN  - 0 (Potassium Channels)
RN  - 0 (Potassium Channels, Voltage-Gated)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - DNA, Complementary/isolation & purification
MH  - Ear, Inner/metabolism
MH  - Female
MH  - Gene Expression Regulation
MH  - *Genes, Dominant
MH  - Hair Cells, Auditory, Outer/*metabolism
MH  - Hearing Loss, Sensorineural/*genetics/metabolism
MH  - Humans
MH  - KCNQ Potassium Channels
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Oocytes
MH  - Pedigree
MH  - Potassium Channels/*biosynthesis/*genetics/physiology
MH  - *Potassium Channels, Voltage-Gated
MH  - Xenopus laevis
EDAT- 1999/02/20 00:00
MHDA- 1999/02/20 00:01
CRDT- 1999/02/20 00:00
PHST- 1999/02/20 00:00 [pubmed]
PHST- 1999/02/20 00:01 [medline]
PHST- 1999/02/20 00:00 [entrez]
AID - S0092-8674(00)80556-5 [pii]
AID - 10.1016/s0092-8674(00)80556-5 [doi]
PST - ppublish
SO  - Cell. 1999 Feb 5;96(3):437-46. doi: 10.1016/s0092-8674(00)80556-5.