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). |