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A global disorder of imprinting in the human female germ line

Judson, H., Hayward, B.E., Sheridan, E. and Bonthron, D.T. (2002) A global disorder of imprinting in the human female germ line. Nature, 416 (6880). pp. 539-542. ISSN 0028-0836

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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 syndromes. 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 mole, 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.

Item Type: Article
Copyright, Publisher and Additional Information: © 2002 Macmillan Magazines Ltd
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds)
Depositing User: Repository Officer
Date Deposited: 13 Mar 2006
Last Modified: 08 Feb 2013 17:01
Published Version: http://www.nature.com/nature/
Status: Published
Refereed: Yes
Identification Number: 10.1038/416539a
URI: http://eprints.whiterose.ac.uk/id/eprint/71

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