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Addendum

Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus

A whisper with functional consequences

&
Article: e27228 | Received 27 Oct 2013, Accepted 15 Nov 2013, Published online: 12 Dec 2013

References

  • Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2:21 - 32; http://dx.doi.org/10.1038/35047554; PMID: 11253064
  • Gehring M. Genomic Imprinting: Parental Lessons from Plants. Annu Rev Genet 2013; http://dx.doi.org/10.1146/annurev-genet-110711-155527
  • Wood AJ, Oakey RJ. Genomic imprinting in mammals: emerging themes and established theories. PLoS Genet 2006; 2:e147; http://dx.doi.org/10.1371/journal.pgen.0020147; PMID: 17121465
  • Barton SC, Surani MA, Norris ML. Role of paternal and maternal genomes in mouse development. Nature 1984; 311:374 - 6; http://dx.doi.org/10.1038/311374a0; PMID: 6482961
  • McGrath J, Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 1984; 37:179 - 83; http://dx.doi.org/10.1016/0092-8674(84)90313-1; PMID: 6722870
  • Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 1984; 308:548 - 50; http://dx.doi.org/10.1038/308548a0; PMID: 6709062
  • Smith FM, Garfield AS, Ward A. Regulation of growth and metabolism by imprinted genes. Cytogenet Genome Res 2006; 113:279 - 91; http://dx.doi.org/10.1159/000090843; PMID: 16575191
  • Radford EJ, Isganaitis E, Jimenez-Chillaron J, Schroeder J, Molla M, Andrews S, Didier N, Charalambous M, McEwen K, Marazzi G, et al. An unbiased assessment of the role of imprinted genes in an intergenerational model of developmental programming. PLoS Genet 2012; 8:e1002605; http://dx.doi.org/10.1371/journal.pgen.1002605; PMID: 22511876
  • Davies W, Isles AR, Humby T, Wilkinson LS. What are imprinted genes doing in the brain?. Epigenetics 2007; 2:201 - 6; http://dx.doi.org/10.4161/epi.2.4.5379; PMID: 18094620
  • Charalambous M, Ferron SR, da Rocha ST, Murray AJ, Rowland T, Ito M, Schuster-Gossler K, Hernandez A, Ferguson-Smith AC. Imprinted gene dosage is critical for the transition to independent life. Cell Metab 2012; 15:209 - 21; http://dx.doi.org/10.1016/j.cmet.2012.01.006; PMID: 22326222
  • McNamara GI, Isles AR. Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness. Biochem Soc Trans 2013; 41:721 - 6; http://dx.doi.org/10.1042/BST20130008; PMID: 23697931
  • Mann MR, Lee SS, Doherty AS, Verona RI, Nolen LD, Schultz RM, Bartolomei MS. Selective loss of imprinting in the placenta following preimplantation development in culture. Development 2004; 131:3727 - 35; http://dx.doi.org/10.1242/dev.01241; PMID: 15240554
  • Jirtle RL, Skinner MK. Environmental epigenomics and disease susceptibility. Nat Rev Genet 2007; 8:253 - 62; http://dx.doi.org/10.1038/nrg2045; PMID: 17363974
  • Lim AL, Ferguson-Smith AC. Genomic imprinting effects in a compromised in utero environment: implications for a healthy pregnancy. Semin Cell Dev Biol 2010; 21:201 - 8; http://dx.doi.org/10.1016/j.semcdb.2009.10.008; PMID: 19879952
  • Radford EJ, Ferrón SR, Ferguson-Smith AC. Genomic imprinting as an adaptative model of developmental plasticity. FEBS Lett 2011; 585:2059 - 66; http://dx.doi.org/10.1016/j.febslet.2011.05.063; PMID: 21672541
  • Prickett AR, Oakey RJ. A survey of tissue-specific genomic imprinting in mammals. Mol Genet Genomics 2012; 287:621 - 30; http://dx.doi.org/10.1007/s00438-012-0708-6; PMID: 22821278
  • Ineson J, Stayner C, Hazlett J, Slobbe L, Robson E, Legge M, Eccles MR. Somatic reactivation of expression of the silent maternal Mest allele and acquisition of normal reproductive behaviour in a colony of Peg1/Mest mutant mice. J Reprod Dev 2012; 58:490 - 500; http://dx.doi.org/10.1262/jrd.11-115A; PMID: 22522229
  • Rieusset A, Schaller F, Unmehopa U, Matarazzo V, Watrin F, Linke M, Georges B, Bischof J, Dijkstra F, Bloemsma M, et al. Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences. PLoS Genet 2013; 9:e1003752; http://dx.doi.org/10.1371/journal.pgen.1003752; PMID: 24039599
  • Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012; 14:10 - 26; http://dx.doi.org/10.1038/gim.0b013e31822bead0; PMID: 22237428
  • Butler MG. Prader-Willi Syndrome: Obesity due to Genomic Imprinting. Curr Genomics 2011; 12:204 - 15; http://dx.doi.org/10.2174/138920211795677877; PMID: 22043168
  • McAllister CJ, Whittington JE, Holland AJ. Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding. Int J Obes (Lond) 2011; 35:188 - 97; http://dx.doi.org/10.1038/ijo.2010.139; PMID: 20680019
  • Dykens EM, Lee E, Roof E. Prader-Willi syndrome and autism spectrum disorders: an evolving story. J Neurodev Disord 2011; 3:225 - 37; http://dx.doi.org/10.1007/s11689-011-9092-5; PMID: 21858456
  • Festen DA, de Weerd AW, van den Bossche RA, Joosten K, Hoeve H, Hokken-Koelega AC. Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. J Clin Endocrinol Metab 2006; 91:4911 - 5; http://dx.doi.org/10.1210/jc.2006-0765; PMID: 17003096
  • Tauber M, Diene G, Molinas C, Hébert M. Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet A 2008; 146:881 - 7; http://dx.doi.org/10.1002/ajmg.a.32131; PMID: 18324685
  • Resnick JL, Nicholls RD, Wevrick R. Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome 2013; 24:165 - 78; http://dx.doi.org/10.1007/s00335-013-9454-2; PMID: 23609791
  • Powell WT, Coulson RL, Crary FK, Wong SS, Ach RA, Tsang P, Alice Yamada N, Yasui DH, Lasalle JM. A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure. Hum Mol Genet 2013; 22:4318 - 28; http://dx.doi.org/10.1093/hmg/ddt281; PMID: 23771028
  • Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013; 45:1405 - 8; http://dx.doi.org/10.1038/ng.2776; PMID: 24076603
  • Chamberlain SJ, Johnstone KA, DuBose AJ, Simon TA, Bartolomei MS, Resnick JL, Brannan CI. Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. Hum Mol Genet 2004; 13:2971 - 7; http://dx.doi.org/10.1093/hmg/ddh314; PMID: 15459179
  • Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet 1998; 19:25 - 31; http://dx.doi.org/10.1038/ng0598-25; PMID: 9590284
  • Gabriel JM, Merchant M, Ohta T, Ji Y, Caldwell RG, Ramsey MJ, Tucker JD, Longnecker R, Nicholls RD. A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes. [In Process Citation] Proc Natl Acad Sci U S A 1999; 96:9258 - 63; http://dx.doi.org/10.1073/pnas.96.16.9258; PMID: 10430930
  • Dubose AJ, Smith EY, Yang TP, Johnstone KA, Resnick JL. A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center. Hum Mol Genet 2011; 20:3461 - 6; http://dx.doi.org/10.1093/hmg/ddr262; PMID: 21659337
  • Relkovic D, Doe CM, Humby T, Johnstone KA, Resnick JL, Holland AJ, Hagan JJ, Wilkinson LS, Isles AR. Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome. Eur J Neurosci 2010; 31:156 - 64; http://dx.doi.org/10.1111/j.1460-9568.2009.07048.x; PMID: 20092561
  • Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 1993; 2:2001 - 5; http://dx.doi.org/10.1093/hmg/2.12.2001; PMID: 8111367
  • Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA, Jones J. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat Genet 1992; 2:270 - 4; http://dx.doi.org/10.1038/ng1292-270; PMID: 1303278
  • Rogan PK, Seip JR, White LM, Wenger SL, Steele MW, Sperling MA, Menon R, Knoll JH. Relaxation of imprinting in Prader-Willi syndrome. [In Process Citation] Hum Genet 1998; 103:694 - 701; http://dx.doi.org/10.1007/s004390050893; PMID: 9921905
  • Muralidhar B, Marney A, Butler MG. Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities. Genet Med 1999; 1:141 - 5; http://dx.doi.org/10.1097/00125817-199905000-00005; PMID: 11258349
  • Zanella S, Watrin F, Mebarek S, Marly F, Roussel M, Gire C, Diene G, Tauber M, Muscatelli F, Hilaire G. Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome. J Neurosci 2008; 28:1745 - 55; http://dx.doi.org/10.1523/JNEUROSCI.4334-07.2008; PMID: 18272695
  • Ren J, Lee S, Pagliardini S, Gérard M, Stewart CL, Greer JJ, Wevrick R. Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. J Neurosci 2003; 23:1569 - 73; PMID: 12629158
  • Xu N, Tsai CL, Lee JT. Transient homologous chromosome pairing marks the onset of X inactivation. Science 2006; 311:1149 - 52; http://dx.doi.org/10.1126/science.1122984; PMID: 16424298
  • Thatcher KN, Peddada S, Yasui DH, Lasalle JM. Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum Mol Genet 2005; 14:785 - 97; http://dx.doi.org/10.1093/hmg/ddi073; PMID: 15689352
  • Krueger C, King MR, Krueger F, Branco MR, Osborne CS, Niakan KK, Higgins MJ, Reik W. Pairing of homologous regions in the mouse genome is associated with transcription but not imprinting status. PLoS One 2012; 7:e38983; http://dx.doi.org/10.1371/journal.pone.0038983; PMID: 22802932
  • Schneider E, Pliushch G, El Hajj N, Galetzka D, Puhl A, Schorsch M, Frauenknecht K, Riepert T, Tresch A, Müller AM, et al. Spatial, temporal and interindividual epigenetic variation of functionally important DNA methylation patterns. Nucleic Acids Res 2010; 38:3880 - 90; http://dx.doi.org/10.1093/nar/gkq126; PMID: 20194112
  • Diplas AI, Hu J, Lee MJ, Ma YY, Lee YL, Lambertini L, Chen J, Wetmur JG. Demonstration of all-or-none loss of imprinting in mRNA expression in single cells. Nucleic Acids Res 2009; 37:7039 - 46; http://dx.doi.org/10.1093/nar/gkp749; PMID: 19767614
  • Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. Hum Mol Genet 2010; 19:4895 - 905; http://dx.doi.org/10.1093/hmg/ddq424; PMID: 20876615