KCNQ1OT1

(redirected from KvDMR1)

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 ?
Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome.
The main objective of this study was to determine the occurrence of 5-hmC at KvDMR1 (ICR2), an imprinted region of 11p15.
The normalized data were applied to the formulas provided by the kit's manual to quantify methylation and hydroxymethylation at KvDMR1.
Since the values found for 5-hmC were very low (sometimes negative, as an artifact of the equations used for normalization) and the values for 5-mC from both methods were statistically similar, we considered that the methylation percentage found by Method II is reliable and that 5-hmC was absent at KvDMR1 in these placenta samples.
We observed agreement between the results of both methods (I and II), indicating the absence of hydroxymethylation at the KvDMR1 in third-trimester normal human placentas (chorionic villi).
Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies.