Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome

In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients wit...

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Bibliographic Details
Published in:Journal of medical genetics 1993-05, Vol.30 (5), p.353-362
Main Authors: Schneid, H, Seurin, D, Vazquez, M P, Gourmelen, M, Cabrol, S, Le Bouc, Y
Format: Article
Language:English
Subjects:
Adult
Alleles
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann Syndrome - genetics
Beckwith-Wiedemann Syndrome - pathology
Blotting, Northern
Blotting, Southern
Calcitonin - genetics
Child
Chromosomes, Human, Pair 11
DNA - blood
DNA - chemistry
DNA - isolation & purification
Fathers
Female
Gene Expression Regulation
Gene Frequency
genes
Humans
Immunoblotting
Insulin - genetics
insulin-like growth factor II
Insulin-Like Growth Factor II - genetics
Leukocytes - chemistry
Male
man
Methylation
Mothers
Restriction Mapping
RNA, Messenger - biosynthesis
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Summary:In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients with Beckwith-Wiedemann syndrome. In control leucocyte DNA (16 unrelated adults and eight families), the maternal allele of the IGF-II gene was specifically hypomethylated, whereas no such allele specific methylation was found for either the insulin or the calcitonin genes which are located in 11p15.5 and 11p15.1, respectively. Furthermore, the IGF-II gene specific hypomethylation was localised on the 5' portion of exon 9. In the patients with Beckwith-Wiedemann syndrome in which the IGF-II gene is thought to be involved and where paternal isodisomy has been described, hypomethylation of the maternal allele was conserved in leucocyte DNA, but abnormal methylation was detected in malformed tissues where the paternal allele was also demethylated. Some specific mechanism linked to methylation therefore seems to be involved in the pathogenesis of Beckwith-Wiedemann syndrome.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.30.5.353