A global disorder of imprinting in the human female germ line

Nature
Hannah JudsonDavid T Bonthron

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.

References

Aug 18, 1977·Nature·T Kajii, K Ohama
Oct 1, 1995·Nature Genetics·L StrainD T Bonthron
Aug 11, 1994·Nucleic Acids Research·S J ClarkM Frommer
Sep 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·R ShemerA Razin
Aug 26, 1998·Proceedings of the National Academy of Sciences of the United States of America·B E HaywardD T Bonthron
Dec 23, 1998·Proceedings of the National Academy of Sciences of the United States of America·B E HaywardD T Bonthron
Mar 11, 1999·Human Molecular Genetics·Y B MoglabeyR Slim
Jul 8, 1999·Proceedings of the National Academy of Sciences of the United States of America·N J SmilinichM J Higgins
Mar 4, 2000·Human Molecular Genetics·R J GardnerD O Robinson
Apr 6, 2000·Human Molecular Genetics·B E Hayward, D T Bonthron
Jul 27, 2000·Molecular and Cellular Biology·J LiuL S Weinstein
Nov 9, 2000·The Journal of Clinical Investigation·J LiuL S Weinstein
Nov 24, 2001·Science·D Bourc'hisT H Bestor

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Citations

Sep 19, 2002·Molecular Reproduction and Development·Abraham L Kierszenbaum
Oct 17, 2002·Journal of Biosciences·Paramasivam K Kathirvel, Prim B Singh
Jan 24, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Maria LoschiavoPaul B Vrana
Oct 11, 2003·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·T K Al-HussainiI B Van den Veyver
May 5, 2005·Psychological Bulletin·Lawrence V Harper
Nov 5, 2004·Nature·Miguel ConstânciaWolf Reik
Jun 10, 2011·European Journal of Human Genetics : EJHG·Lone SundeLars Bolund
Dec 13, 2012·European Journal of Human Genetics : EJHG·Ramesh ReddyRima Slim
Jan 17, 2008·European Journal of Human Genetics : EJHG·Susanne E BoonenJohanne Md Hahnemann
Sep 16, 2008·Médecine sciences : M/S·Amandine Henckel, Robert Feil
Feb 16, 2006·Reproduction, Fertility, and Development·Jacquetta M Trasler
Aug 13, 2010·Biology of Reproduction·Amanda R Duselis, Paul B Vrana
May 31, 2011·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Hanène LandolsiMohamed Tahar Yacoubi
Jun 15, 2005·Annual Review of Biochemistry·Mary Grace Goll, Timothy H Bestor
Oct 16, 2004·Annual Review of Genomics and Human Genetics·Yong-Hui JiangArthur L Beaudet
Aug 23, 2011·BMC Evolutionary Biology·Shunsuke SuzukiMarilyn B Renfree
Apr 7, 2007·Pediatric Research·Ariane Paoloni-Giacobino
Feb 18, 2014·Current Obstetrics and Gynecology Reports·Ngoc Minh Phuong Nguyen, Rima Slim
Dec 15, 2010·Future Oncology·Constantine Alifrangis, Michael J Seckl
May 27, 2010·Reproduction : the Official Journal of the Society for the Study of Fertility·Philippe Arnaud
Oct 10, 2013·Human Molecular Genetics·Sangeetha MahadevanIgnatia B Van den Veyver
Dec 1, 2009·Epigenomics·Derek Hk Lim, Eamonn R Maher
Nov 11, 2014·Annual Review of Animal Biosciences·Xiuchun Cindy Tian
Feb 8, 2005·Reproduction : the Official Journal of the Society for the Study of Fertility·Cinzia AllegrucciLorraine Young
Apr 7, 2005·Proceedings of the National Academy of Sciences of the United States of America·Jie LiuLee S Weinstein
Dec 14, 2002·Proceedings of the National Academy of Sciences of the United States of America·Frederic ChedinChih-Lin Hsieh
Mar 1, 2005·Coronary Artery Disease·Justina SamRen-Ke Li
Feb 28, 2006·Nature Genetics·Timothy H Bestor, Déborah Bourc'his
Jul 3, 2003·Médecine sciences : M/S·Simone Gilgenkrantz

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