Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Nature
R D NichollsM Lalande

Abstract

Prader-Willi syndrome (PWS) is the most common form of dysmorphic genetic obesity associated with mental retardation. About 60% of cases have a cytological deletion of chromosome 15q11q13 (refs 2, 3). These deletions occur de novo exclusively on the paternal chromosome. By contrast, Angelman syndrome (AS) is a very different clinical disorder and is also associated with deletions of region 15q11q13 (refs 6-8), indistinguishable from those in PWS except that they occur de novo on the maternal chromosome. The parental origin of the affected chromosomes 15 in these disorders could, therefore, be a contributory factor in determining their clinical phenotypes. We have now used cloned DNA markers specific for the 15q11q13 subregion to determine the parental origin of chromosome 15 in PWS individuals not having cytogenetic deletions; these individuals account for almost all of the remaining 40% of PWS cases. Probands in two families displayed maternal uniparental disomy for chromosome 15q11q13. This is the first demonstration that maternal heterodisomy--the presence of two different chromosome 15s derived from the mother--can be associated with a human genetic disease. The absence of a paternal contribution of genes in region 15q11q13...Continue Reading

References

Aug 18, 1977·Nature·T Kajii, K Ohama
Mar 26, 1976·Science·J J Yunis
Jun 1, 1989·Scientific American·R Holliday
Sep 12, 1988·Nucleic Acids Research·D C RichD H Ledbetter
Feb 1, 1989·Journal of Medical Genetics·M PembreyM Super
Mar 9, 1989·Nature·W Reik, M A Surani
Jun 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·T A DonlonS A Latt
Jul 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·D R HiggsA G Falusi
Aug 1, 1988·Genes & Development·M Monk
Jan 1, 1988·Annual Review of Genetics·D Solter
Mar 1, 1988·Trends in Genetics : TIG·M A SuraniN D Allen
Apr 8, 1988·Cell·H Cedar
Nov 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·M LalandeG W Slater
Aug 11, 1987·Nucleic Acids Research·N Fischel-GhodsianD R Higgs
Feb 1, 1987·American Journal of Medical Genetics·M G Butler, F J Meaney
Mar 1, 1986·American Journal of Medical Genetics·M G ButlerC G Palmer
Oct 30, 1971·Lancet·M Seabright
Jan 1, 1984·Current Problems in Pediatrics·S B Cassidy
Jan 1, 1980·American Journal of Medical Genetics·E Engel

❮ Previous
Next ❯

Citations

Sep 1, 1996·Prenatal Diagnosis·W P RobinsonA Schinzel
Oct 1, 1996·Prenatal Diagnosis·L G ShafferD K Kalousek
Dec 1, 1996·Prenatal Diagnosis·S Malcolm
Nov 20, 1997·Journal of Cellular Physiology·B Horsthemke
May 8, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·W P Robinson
Jul 19, 2000·Mental Retardation and Developmental Disabilities Research Reviews·A DimitropoulosT Thompson
Aug 13, 2011·American Journal of Medical Genetics. Part a·Margje SinnemaConstance T R M Schrander-Stumpel
Nov 1, 1990·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·H J Evans
Apr 1, 1994·Prenatal Diagnosis·A GarberJ M Graham
Jun 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J A BarrB M Cattanach
Jan 1, 1992·Mammalian Genome : Official Journal of the International Mammalian Genome Society·M H Brilliant
Dec 1, 1996·European Child & Adolescent Psychiatry·T MartinssonJ Wahlström
Jan 1, 1992·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Y NakatsuM H Brilliant
Jan 1, 1994·Journal of Inherited Metabolic Disease·B M Cattanach, J Jones
Mar 1, 1993·Behavior Genetics·M J Durcan, D Goldman
Jan 1, 1994·Pediatric Radiology·J G Hall, E Lopez-Rangel
Jul 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·B M CattanachJ Jones
May 20, 2011·Human Genetics·Philip M BooneJames R Lupski
Mar 4, 2008·Journal of Autism and Developmental Disorders·Anastasia Dimitropoulos, Robert T Schultz
May 12, 2012·Journal of Autism and Developmental Disorders·Anastasia DimitropoulosBenjamin Feldman
Oct 22, 2009·Journal of Assisted Reproduction and Genetics·Merlin G Butler
Oct 1, 1992·Journal of Psychiatric Research·P F Pignatti, A E Turco
May 1, 1995·Journal of the Neurological Sciences·S ChatkuptW G Johnson
Jul 1, 1994·Journal of the Neurological Sciences·U MüllerA Köhler
Dec 1, 1992·Mutation Research·H Müller, R Scott
Jun 1, 1994·Mutation Research·J R Chaillet
Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Aug 17, 1991·Lancet
Mar 29, 1996·Brain Research. Developmental Brain Research·E B KeverneM A Surani

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