The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

Kcnq1
Kvlqt1

Chromosome:

Human Chr11p15.5
Mouse Chr7 (distal)

Links:

OMIM

Imprinting:

The paternal allele of Kcnq1 is variably repressed; maternal allele active in multiple fetal tissues of mice and humans (Lee MP et al, 1997; Gould TD et al, 1998; Jiang S et al, 1998); but there is biallelic expression in adult tissues, including heart (Gould TD et al, 1998).
Imprinting of Kcnq1 and neighbouring genes is regulated by an imprinting control region (Kcnq1 ICR) in intron 10 of Kcnq1 (Fitzpatrick GV et al, 2002; Thakur N et al, 2003).

Gene Product:

KvLQT1 encodes a voltage-sensitive potassium channel.

Functional Data:

When KCNQ1/KvLQT1 protein is co-expressed with KCNE1 (or related proteins), the two subunits heterodimerize to form a functional potassium channel, reviewed in (Robbins J, 2001). Missense mutations in the KCNQ1 gene cause the long QT syndrome (LQT1) of cardiac arrhythmias, which is transmitted as an autosomal dominant trait, without a parent-of-origin effect. In a recessive variant of this syndrome, JLNS, there is also profound deafness due to deficient endolymphatic circulation, reviewed in (Wang Q et al, 1998). In two studies, knockout mice lacking Kcnq1 exhibited deafness and imbalance, with disruption of the inner ear anatomy due to insufficient endolymph (Casimiro MC et al, 2001; Lee MP et al, 2000). This was the most obvious abnormality, but other features were also observed. In one of the two studies, homozygous mice also displayed threefold enlargement by weight of the stomach resulting from mucous neck cell hyperplasia, but electrocardiographic changes were not observed (Lee MP et al, 2000). The other study did not describe the gastric changes, but showed non-lethal electrocardiographic abnormalities in the mutant mice (Casimiro MC et al, 2001).

 

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