KCNQ1OT1

KCNQ1OT1

A gene on chromosome 11p15 that is epigenetically regulated and expressed from only one chromosome in a parent-of-origin manner. The KCNQ1OT1 transcript is thought to be non-coding, and regulates bidirectional gene silencing and the spreading of DNA methylation on the paternally inherited chromosome.

Molecular pathology
The transcript is abnormally expressed from both chromosomes (as above) in most patients with Beckwith-Wiedemann syndrome, and occurs in some cancers.
References in periodicals archive ?
The genes encoded at this locus include the genes IGF-R1, CDKN1c, and non-coding RNAs KCNQ1OT1 and H19.
The syndrome is associated with alterations in 2 distinct imprinting domains on 11p15: a telomeric domain containing the H19 and IGF2 genes and a centromeric domain including the KCNQ1OT1 and CDKNIC genes.
Vitrification at the germinal vesicle stage does not affect the methylation profile of H19 and KCNQ1OT1 imprinting centers in human oocytes subsequently matured in vitro .
These include cytogenetic abnormalities, genetic abnormalities [11p 15 [11, 12] paternal uniparental disomy (UPD), mutations in the CDKN1C gene], epigenetic abnormalities [H19 gene, KCNQ1OT1 gene & microdeletions within IC1 or IC2.
As a proof of principle, the authors correctly detected trisomy 21 by assessing the methylation density of chromosome 21 and correctly deduced the imprinting status of 4 selected loci: H19 [2] [H19, imprinted maternally expressed transcript (non-protein coding)], KCNQ1OT1 [KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)], MEST (mesoderm specific transcript), and GNAS (GNAS complex locus).
In the KCNQ1OT1 ICR, all 3 studied sites showed slightly different mean methylation percentages.
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.