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1 records found

Taxon: Human

Chromosome: 11

Location: 11p15.5 (08)

Gene: KCNQ1OT1 (LIT1, KvLQT1-AS, KvDMR1)

Description: KCNQ1OT1 (LIT1) is a paternally expressed antisense transcript originating in intron 10 of KCNQ1. It is associated with a maternally methylated CpG island (KvDMR1)(Beatty L et al, 2006 [for DMR boundaries]). KCNQ1OT1 is biallelically expressed in some cases of BWS (Lee MP et al, 1999; Smilinich NJ et al, 1999; Mitsuya K et al, 1999).
In mice and humans KvDMR1 is involved in the coordinate control of the adjacent imprinted genes PHLDA2, Slc22a1l, Cdkn1c, Kcnq1, Tssc4, and Ascl2 (Fitzpatrick GV et al, 2002; Horike S et al, 2000).
Mechanisms by which KCNQ1OT1 represses the other imprinted genes in the domain are explored by Lewis A et al (2004), Umlauf D et al (2004), Mancini-Dinardo D et al (2006), Green K et al (2007) and Shin JY et al (2007).
KCNQ1OT1 RNA accumulates along regions of chromosome 11p suggesting that the physical presence of the RNA may contribute to imprinting of neighbouring genes (Murakami K et al, 2007).
Loss of methylation of KCNQ1OT1, and BWS, in a family was associated with maternal homozygosity for a frameshift mutation in exon 6 of NLRP2 (Meyer E et al, 2009).

Category: Imprinted genes

Links: Gene   Record:182 Last Modified 4/27/2019

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