Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2.
Duplication of a segment of the long arm of human chromosome 3 (3q26.3-q27) results in a syndrome characterized by multiple congenital abnormalities and neurological anomalies in some patients. We have identified a novel gene (KCNMB3) that maps to this region. KCNMB3 has significant sequence similarity to the regulatory subunit of the large-conductance calcium-activated potassium channel. Due to the significance of potassium channels in neuronal functions, the overexpression of this gene may play a role in the abnormal neurological functions seen in some of these patients. A related sequence corresponding to the second and third exons of this gene resides in the pericentromeric region of 22q11, where a number of other unprocessed pseudogenes are known to map.
Riazi
M A
MA
Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 2E9, Canada.
Brinkman-Mills
P
P
Johnson
A
A
Naylor
S L
SL
Minoshima
S
S
Shimizu
N
N
Baldini
A
A
McDermid
H E
HE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D025063:Chromosome Disorders / Q000235:genetics* / Q000378:metabolism; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005260:Female; D020440:Gene Duplication; D005796:Genes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017136:Ion Transport / Q000235:genetics; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D016133:Polymerase Chain Reaction; D011188:Potassium / Q000378:metabolism; D015221:Potassium Channels / Q000235:genetics* / Q000502:physiology; D024681:Potassium Channels, Calcium-Activated; D012640:Seizures / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
C403242:KCNMB3 protein, human; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D024681:Potassium Channels, Calcium-Activated; D011188:Potassium