KCNQ1OT1

(redirected from KCNQ10T1)

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 ?
2] Human genes: H19, H19, imprinted maternally expressed transcript (non-protein coding); KCNQ10T1, KCNQ1 opposite strand/antisense transcript 1 (non-protein coding); MEST, mesoderm specific transcript; GNAS, GNAS complex locus; ST0X1, storkhead box 1.
5] Human genes: H19, H19, imprinted maternally expressed transcript {non-protein coding); KCNQ10T1, KCNQ1 opposite strand/antisense transcript 1 {non-protein coding); MEST, mesoderm specific transcript; GNAS, GNAS complex locus.
To study KCNQ10T1 methylation with HpaII in addition to NotI, we designed 2 additional assays, one at 1 kb upstream (KCNQIOTI-HpaII-1) and another at 0.