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Article

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.

Genomics - 1 Aug 2004

Du Minjie, Zhou Wenjing, Beatty Linda G, Weksberg Rosanna, Sadowski Paul D

Abstract excerpt

The human 11p15.5 region contains several maternally and paternally imprinted genes. Dysregulation of imprinting of some of these genes occurs in the Beckwith-Wiedemann syndrome and several tumors. Imprinting in this region is controlled by two imprinting control regions (ICR). ICR1 acts as an insulator that regulates the reciprocal imprinting of the IGF2 and H19 genes. A differentially methylated region in ICR2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15233993
DOI: 10.1016/j.ygeno.2004.03.008

Genes

IGF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.PMID 15233993Read ↗

A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencerSemantic proximity Read ↗

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.Semantic proximity Read ↗

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactomeSemantic proximity Read ↗

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Semantic proximity Read ↗

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprintingSemantic proximity Read ↗

Imprinting disruption of the <i>CDKN1C</i>/<i>KCNQ1OT1</i> domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancerSemantic proximity Read ↗

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.Semantic proximity Read ↗

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms' tumorSemantic proximity Read ↗

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting.Semantic proximity Read ↗

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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