Imprinting in Prader-Willi and Angelman syndromes

Trends in Genetics : TIG
R D NichollsB Horsthemke

Abstract

Imprinted genes are marked in the germline and retain molecular memory of their parental origin, resulting in allelic expression differences during development. Abnormalities in imprinted inheritance occur in several genetic diseases and cancer, and are exemplified by the diverse genetic defects involving chromosome 15q11-q13 in Prader-Willi (PWS) and Angelman (AS) syndromes. PWS involves loss of function of multiple paternally expressed genes, while mutations in a single gene, UBE3A, which is subject to spatially restricted imprinting, occur in some AS patients. Identification of mutations in the imprinting process in PWS and AS has led to a definition of an imprinting center (IC), involving the promoter (in PWS) or an alternative transcript of the SNRPN gene (in AS). The IC regulates initiation of imprint switching for all genes in a 2 Mb imprinted domain during gametogenesis. Imprinting mutations define a novel mechanism of genetic disease because they have no direct effect in the affected patient but, rather, it is the parental germline effect of an IC mutation that leads to disease in the offspring.

References

Oct 1, 1990·Scientific American·C Sapienza
Jun 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J A BarrB M Cattanach
Mar 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·J M HuibregtseP M Howley
Apr 1, 1995·Nature Genetics·K D TremblayM S Bartolomei
Jun 1, 1994·Trends in Genetics : TIG·D P Barlow
Jan 1, 1994·Molecular Genetic Medicine·D J Driscoll
May 15, 1994·American Journal of Medical Genetics·A BottaniA Schinzel
Mar 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·R D NichollsE M Rinchik
May 18, 1994·Journal of the National Cancer Institute·S Rainier, A P Feinberg
Nov 25, 1993·Nature·E LiR Jaenisch
Mar 22, 1996·Cell·M Hochstrasser
May 3, 1996·Science·J M LaSalle, M Lalande
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·S SaitohR D Nicholls
Sep 1, 1996·Ophthalmic Plastic and Reconstructive Surgery·D RibuffoN Scuderi
Nov 1, 1996·Nature Medicine·A Ciechanover
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Jul 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·B M CattanachJ Jones
Jul 1, 1997·American Journal of Human Genetics·J BürgerA Reis
Aug 1, 1997·Trends in Genetics : TIG·W Reik, E R Maher
Sep 1, 1997·Nature Genetics·T H Vu, A R Hoffman
Sep 1, 1997·Nature Genetics·C RougeulleM Lalande
Sep 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·R ShemerA Razin
Sep 25, 1997·Human Molecular Genetics·H R MacDonald, R Wevrick

❮ Previous
Next ❯

Citations

Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·C E Stafstrom, B L Tempel
Sep 25, 2001·The Journal of Pathology·M Paulsen, A C Ferguson-Smith
Apr 23, 2005·Cell and Tissue Research·Karen M MoritzE Marelyn Wintour
Sep 29, 2006·Journal of Autism and Developmental Disorders·Dorota A Kwasnicka-CrawfordStephen W Scherer
Jan 1, 2008·Environmental Health and Preventive Medicine·Takeo Kubota
Jun 1, 2005·Neurobiology of Disease·Damien ColasNicole Sarda
Nov 24, 2001·Trends in Genetics : TIG·M SpielmanR J Scott
Oct 26, 1999·Trends in Genetics : TIG·R Feil, S Khosla
Dec 3, 2002·Archives of Medical Research·Félix Recillas-Targa
Jul 4, 2002·Gene·Aránzazu de la PuenteChristoph Plass
Apr 27, 2001·Toxicology Letters·S L ThompsonR Feil
Apr 8, 2000·Current Opinion in Genetics & Development·F SleutelsR Lyle
Sep 12, 2000·Current Opinion in Genetics & Development·I Ben-Porath, H Cedar
Nov 21, 2000·Current Opinion in Neurobiology·H Y ZoghbiD W Choi
May 9, 2003·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·A E ChambersB D Young
Jul 25, 2000·Trends in Cognitive Sciences·A R Isles, L S Wilkinson
May 28, 2004·Nature·Gerda EggerPeter A Jones
Dec 6, 2001·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·A Y HershkoA Razin
Aug 8, 2001·Journal of Intellectual Disability Research : JIDR·K PatjaM Iivanainen
Nov 2, 2002·The EMBO Journal·Jonathan PerkRuth Shemer
Apr 4, 2008·Human Molecular Genetics·Andrea M AllanXinyu Zhao
Jul 13, 2004·Nucleic Acids Research·Jason C Y LauRachel Wevrick
Aug 24, 2005·Nucleic Acids Research·Sara Rodriguez-JatoThomas P Yang
Sep 26, 2000·Human Molecular Genetics·B M CattanachC Rasberry
Apr 13, 2000·Journal of the American Academy of Child and Adolescent Psychiatry·J M Greally, M W State
Jun 10, 2000·Journal of the American Academy of Child and Adolescent Psychiatry·M W State, E M Dykens
Jul 13, 2000·Journal of the American Academy of Child and Adolescent Psychiatry·P J Lombroso
Aug 12, 2000·Journal of the American Academy of Child and Adolescent Psychiatry·M W StateJ F Leckman
Jun 24, 2003·Journal of the American Academy of Child and Adolescent Psychiatry·Erika L NurmiJames S Sutcliffe
Feb 12, 2000·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·D Weatherall
Aug 25, 2005·Cold Spring Harbor Symposia on Quantitative Biology·W ReikR Feil
Jan 8, 2000·Acta Paediatrica. Supplement·R D NichollsT A Gray
Dec 13, 2000·Molecular and Cellular Biology·Y Q FengE E Bouhassira

❮ Previous
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