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 ?
Vernucci et al., "Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes," American Journal of Human Genetics, vol.
Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome.
Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat Genet 2002; 32: 426-431, doi: 10.1038/ng988.
Hussain, "The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation," Journal of Pediatric Endocrinology & Metabolism, 2014.
Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies.
The main objective of this study was to determine the occurrence of 5-hmC at KvDMR1 (ICR2), an imprinted region of 11p15.5, which could possibly influence the results derived from techniques based on restriction enzymatic digestion and/or bisulfite modification, comparing two different methods.
The normalized data were applied to the formulas provided by the kit's manual to quantify methylation and hydroxymethylation at KvDMR1. Using the comparative Ct method, samples were normalized by setting the control reaction (Tube 6) as the calibrator.
In a previous study, we determined the normal methylation values between 34 and 58% for KvDMR1, using Method II (data not shown).
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).