A global disorder of imprinting in the human female germ line

Hannah Judson, Bruce E. Hayward, Eamonn Sheridan and David T. Bonthron ()
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Hannah Judson: University of Leeds, Molecular Medicine Unit, St. James's University Hospital
Bruce E. Hayward: University of Leeds, Molecular Medicine Unit, St. James's University Hospital
Eamonn Sheridan: University of Leeds, Molecular Medicine Unit, St. James's University Hospital
David T. Bonthron: University of Leeds, Molecular Medicine Unit, St. James's University Hospital

Nature, 2002, vol. 416, issue 6880, 539-542

Abstract: Abstract Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited human syndromes1,2,3,4,5. All these imprinting control defects are cis-acting, disrupting establishment or maintenance of allele-specific epigenetic modifications across one contiguous segment of the genome. In contrast, we report here an inherited global imprinting defect. This recessive maternal-effect mutation disrupts the specification of imprints at multiple, non-contiguous loci, with the result that genes normally carrying a maternal methylation imprint assume a paternal epigenetic pattern on the maternal allele. The resulting conception is phenotypically indistinguishable from an androgenetic complete hydatidiform mole6, in which abnormal extra-embryonic tissue proliferates while development of the embryo is absent or nearly so. This disorder offers a genetic route to the identification of trans-acting oocyte factors that mediate maternal imprint establishment.

Date: 2002
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DOI: 10.1038/416539a

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