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
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.
|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:||16 Sep 2016 12:49|