Journal Article

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

Osman El-Maarri, Muhieddine Seoud, Philippe Coullin, Ursula Herbiniaux, Johannes Oldenburg, Guy Rouleau and Rima Slim

in Human Molecular Genetics

Volume 12, issue 12, pages 1405-1413
Published in print June 2003 | ISSN: 0964-6906
Published online June 2003 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddg152
Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

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We previously mapped a maternal locus responsible for biparental complete hydatidiform moles (BiCHMs) to 19q13.4. The two index patients had a total of 14 molar pregnancies, eight abortions at various developmental stages, and one 16-year-old healthy offspring. We suggested that the defective gene deregulates the expression of imprinted genes. Here, we report the methylation status of four imprinted genes in two BiCHMs from the two sisters, the 16-year-old normal offspring, and two sporadic BiCHMs from unrelated patients. Using two bisulfite-based methods, we demonstrate a general trend of abnormal hypomethylation at the paternally expressed genes, PEG3 and SNRPN, and hypermethylation at the maternally expressed genes, NESP55 and H19, in two to four BiCHMs. Using single nucleotide polymorphisms, we provide the first evidence that SNRPN, NESP55 and H19 are abnormally methylated on the maternal alleles in BiCHMs. We show, in the BiCHMs from the two sisters, that the abnormally methylated H19 allele is inherited from either the maternal grandmother or the maternal grandfather. These data suggest that the abnormal methylation in BiCHMs is not due to an error in erasing the parental imprinting marks but rather in the re-establishment of the new maternal marks during oogenesis or their postzygotic maintenance. The defective 19q13.4 locus may have led to the development of variable degrees of ‘faulty’ paternal marks on the maternal chromosomes.

Journal Article.  5683 words.  Illustrated.

Subjects: Genetics and Genomics

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