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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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 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 |
| 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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