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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Uniparental Disomy

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Disease relevance of Uniparental Disomy


High impact information on Uniparental Disomy


Chemical compound and disease context of Uniparental Disomy


Biological context of Uniparental Disomy


Anatomical context of Uniparental Disomy


Associations of Uniparental Disomy with chemical compounds


Gene context of Uniparental Disomy

  • In the human, it has been reported that the maternal uniparental disomy 7 is responsible for the Silver-Russell syndrome (SRS) whose effects include pre- and postnatal growth retardation and other dysmorphologies [21].
  • In this study of 125 BWS cases, we confirm the association of tumors with constitutional defects in the 11p15 telomeric domain; six of 21 BWS cases with uniparental disomy (UPD) of 11p15 developed tumors and one of three of the rare BWS subtype with hypermethylation of the H19 gene developed tumors [22].
  • Testing for paternal uniparental disomy (UPD) at 11p15.5, CDKN1C mutations, and imprinting defects at KvDMR1 was performed for 96, 32, and 47 patients, respectively [23].
  • The mechanism/s by which mosaic paternal uniparental disomy for 11p15 causes a trafficking defect in the SUR1 protein of the K(ATP) channel remains to be elucidated [24].
  • In 11 of the 56 informative cases, demethylation of KvDMR1 was related to 11p15 uniparental disomy (UPD) (nine CBWS and two IBWS) [25].

Analytical, diagnostic and therapeutic context of Uniparental Disomy


  1. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Pulkkinen, L., Bullrich, F., Czarnecki, P., Weiss, L., Uitto, J. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Bastepe, M., Lane, A.H., Jüppner, H. Am. J. Hum. Genet. (2001) [Pubmed]
  3. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. Brewer, C.M., Lam, W.W., Hayward, C., Grace, E., Maher, E.R., FitzPatrick, D.R. J. Med. Genet. (1998) [Pubmed]
  4. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Varela, M.C., Kok, F., Otto, P.A., Koiffmann, C.P. Eur. J. Hum. Genet. (2004) [Pubmed]
  5. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Hermann, R., Laine, A.P., Johansson, C., Niederland, T., Tokarska, L., Dziatkowiak, H., Ilonen, J., Soltész, G. Pediatrics (2000) [Pubmed]
  6. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.M., Netchine, I., Le Bouc, Y. Nat. Genet. (2005) [Pubmed]
  7. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Matsuura, T., Sutcliffe, J.S., Fang, P., Galjaard, R.J., Jiang, Y.H., Benton, C.S., Rommens, J.M., Beaudet, A.L. Nat. Genet. (1997) [Pubmed]
  8. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Yoshihashi, H., Maeyama, K., Kosaki, R., Ogata, T., Tsukahara, M., Goto, Y., Hata, J., Matsuo, N., Smith, R.J., Kosaki, K. Am. J. Hum. Genet. (2000) [Pubmed]
  9. Uniparental disomy occurs infrequently in Wilms tumor patients. Grundy, P., Wilson, B., Telzerow, P., Zhou, W., Paterson, M.C. Am. J. Hum. Genet. (1994) [Pubmed]
  10. Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14. Takahashi, I., Takahashi, T., Utsunomiya, M., Takada, G., Koizumi, A. Tohoku J. Exp. Med. (2005) [Pubmed]
  11. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Turner, C., Dennis, N.R., Skuse, D.H., Jacobs, P.A. Hum. Genet. (2000) [Pubmed]
  12. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Driscoll, D.J., Waters, M.F., Williams, C.A., Zori, R.T., Glenn, C.C., Avidano, K.M., Nicholls, R.D. Genomics (1992) [Pubmed]
  13. Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome. Uehara, S., Tamura, M., Nata, M., Kanetake, J., Hashiyada, M., Terada, Y., Yaegashi, N., Funato, T., Yajima, A. Am. J. Med. Genet. (1999) [Pubmed]
  14. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Rivolta, C., Berson, E.L., Dryja, T.P. Arch. Ophthalmol. (2002) [Pubmed]
  15. Angelman syndrome: a review of the clinical and genetic aspects. Clayton-Smith, J., Laan, L. J. Med. Genet. (2003) [Pubmed]
  16. gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Blagitko, N., Schulz, U., Schinzel, A.A., Ropers, H.H., Kalscheuer, V.M. Hum. Mol. Genet. (1999) [Pubmed]
  17. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Cavé, H., Polak, M., Drunat, S., Denamur, E., Czernichow, P. Diabetes (2000) [Pubmed]
  18. Uniparental disomy in steroid 5alpha-reductase 2 deficiency. Chávez, B., Valdez, E., Vilchis, F. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  19. Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case. Wolstenholme, J., White, I., Sturgiss, S., Carter, J., Plant, N., Goodship, J.A. Prenat. Diagn. (2001) [Pubmed]
  20. Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. Russo, S., Cogliati, F., Viri, M., Cavalleri, F., Selicorni, A., Turolla, L., Belli, S., Romeo, A., Larizza, L. Hum. Mutat. (2000) [Pubmed]
  21. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Miyoshi, N., Kuroiwa, Y., Kohda, T., Shitara, H., Yonekawa, H., Kawabe, T., Hasegawa, H., Barton, S.C., Surani, M.A., Kaneko-Ishino, T., Ishino, F. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  22. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Weksberg, R., Nishikawa, J., Caluseriu, O., Fei, Y.L., Shuman, C., Wei, C., Steele, L., Cameron, J., Smith, A., Ambus, I., Li, M., Ray, P.N., Sadowski, P., Squire, J. Hum. Mol. Genet. (2001) [Pubmed]
  23. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy. Goldman, M., Smith, A., Shuman, C., Caluseriu, O., Wei, C., Steele, L., Ray, P., Sadowski, P., Squire, J., Weksberg, R., Rosenblum, N.D. J. Am. Soc. Nephrol. (2002) [Pubmed]
  24. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. Hussain, K., Cosgrove, K.E., Shepherd, R.M., Luharia, A., Smith, V.V., Kassem, S., Gregory, J.W., Sivaprasadarao, A., Christesen, H.T., Jacobsen, B.B., Brusgaard, K., Glaser, B., Maher, E.A., Lindley, K.J., Hindmarsh, P., Dattani, M., Dunne, M.J. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  25. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Gaston, V., Le Bouc, Y., Soupre, V., Burglen, L., Donadieu, J., Oro, H., Audry, G., Vazquez, M.P., Gicquel, C. Eur. J. Hum. Genet. (2001) [Pubmed]
  26. Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader-Willi syndrome: an ERP study. Stauder, J.E., Boer, H., Gerits, R.H., Tummers, A., Whittington, J., Curfs, L.M. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2005) [Pubmed]
  27. Prader-Willi syndrome: genetic tests and clinical findings. Fridman, C., Varela, M.C., Kok, F., Setian, N., Koiffmann, C.P. Genet. Test. (2000) [Pubmed]
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