The Prader-Willi/Angelman imprinted domain and its control center - PubMed (original) (raw)
The Prader-Willi/Angelman imprinted domain and its control center
B Kantor et al. Cytogenet Genome Res. 2006.
Abstract
The present review focuses on the recent advances towards understanding the mode of operation of the imprinting center (IC) within the Prader-Willi/Angelman syndromes (PWS/AS) domain. Special emphasis is put on the elucidation of the functional interaction between the two parts of the center, AS-IC and PWS-IC. The recent studies, on which the review is based, reveal cis-acting elements and trans-acting proteins that constitute the two parts of the IC and presumably provide the molecular mechanism for this interaction. AS-IC acquires the primary imprint during gametogenesis by establishing the maternal epigenotype. The unmethylated maternal allele of the AS-IC binds, very likely, a trans-acting factor that confers methylation on the PWS-IC maternal allele after fertilization. It is assumed that the PWS-IC paternal epigenotype, once established, spreads across the entire PWS/AS domain in the soma.
2006 S. Karger AG, Basel.
Similar articles
- Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.
Brant JO, Riva A, Resnick JL, Yang TP. Brant JO, et al. Epigenetics. 2014 Nov;9(11):1540-56. doi: 10.4161/15592294.2014.969667. Epigenetics. 2014. PMID: 25482058 Free PMC article. - A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.
Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL. Johnstone KA, et al. Hum Mol Genet. 2006 Feb 1;15(3):393-404. doi: 10.1093/hmg/ddi456. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368707 - An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.
Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC. Wu MY, et al. PLoS One. 2012;7(4):e34348. doi: 10.1371/journal.pone.0034348. Epub 2012 Apr 4. PLoS One. 2012. PMID: 22496793 Free PMC article. - Prader-Willi syndrome and Angelman syndrome.
Buiting K. Buiting K. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803659 Review. - Mechanisms of imprinting of the Prader-Willi/Angelman region.
Horsthemke B, Wagstaff J. Horsthemke B, et al. Am J Med Genet A. 2008 Aug 15;146A(16):2041-52. doi: 10.1002/ajmg.a.32364. Am J Med Genet A. 2008. PMID: 18627066 Review.
Cited by
- Regulatory RNAs in brain function and disorders.
Iacoangeli A, Bianchi R, Tiedge H. Iacoangeli A, et al. Brain Res. 2010 Jun 18;1338:36-47. doi: 10.1016/j.brainres.2010.03.042. Epub 2010 Mar 20. Brain Res. 2010. PMID: 20307503 Free PMC article. Review. - Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation.
Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J. Skryabin BV, et al. PLoS Genet. 2007 Dec 28;3(12):e235. doi: 10.1371/journal.pgen.0030235. PLoS Genet. 2007. PMID: 18166085 Free PMC article. - Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain.
Wu MY, Tsai TF, Beaudet AL. Wu MY, et al. Genes Dev. 2006 Oct 15;20(20):2859-70. doi: 10.1101/gad.1452206. Genes Dev. 2006. PMID: 17043311 Free PMC article. - Caralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model.
Griggs JL, Mathai ML, Sinnayah P. Griggs JL, et al. Brain Behav. 2018 Dec;8(12):e01102. doi: 10.1002/brb3.1102. Epub 2018 Oct 23. Brain Behav. 2018. PMID: 30353709 Free PMC article. - An algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data.
Gabriel AS, Hassold TJ, Thornhill AR, Affara NA, Handyside AH, Griffin DK. Gabriel AS, et al. Chromosome Res. 2011 Feb;19(2):155-63. doi: 10.1007/s10577-010-9181-4. Epub 2011 Jan 12. Chromosome Res. 2011. PMID: 21225334
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Research Materials