Trans-Acting Epigenetic Effects of Chromosomal Aneuploidies: Lessons From Down Syndrome and Mouse Models

References

• Tycko B . Allele-specific DNA methylation: beyond imprinting . Hum. Mol. Genet.19 ( R2 ), R210 – R220 ( 2010 ).
   PubMedGoogle Scholar
• Revill K , TyckoB . Epigenomic insights into common disease . Genome Med.23 ( 3 ), 71 ( 2016 ).
   Google Scholar
• Weksberg R , ButcherDT , TyckoB . Epigenetics . In : Emery and Rimoin’s Principles and Practice of Medical Genetics (6th Edition) . RimoinDL , PyeritzRE , KorfBR ( Eds ). Elsevier , NY, USA ( 2006 ).
   Google Scholar
• Arrowsmith CH , BountraC , FishPV , LeeK , SchapiraM . Epigenetic protein families: a new frontier for drug discovery . Nat. Rev. Drug Discov.11 ( 5 ), 384 – 400 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Torres EM , WilliamsBR , AmonA . Aneuploidy: cells losing their balance . Genetics179 ( 2 ), 737 – 746 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Savva GM , MorrisJK , MuttonDE , AlbermanE . Maternal age-specific fetal loss rates in Down syndrome pregnancies . Prenat. Diagn.26 ( 6 ), 499 – 504 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Bray IC , WrightDE . Estimating the spontaneous loss of Down syndrome fetuses between the times of chorionic villus sampling, amniocentesis and livebirth . Prenat. Diagn.18 ( 10 ), 1045 – 1054 ( 1998 ).
   PubMed Web of Science ®Google Scholar
• Lana-Elola E , Watson-ScalesSD , FisherEM , TybulewiczVL . Down syndrome: searching for the genetic culprits . Dis. Model Mech.4 ( 5 ), 586 – 595 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Antonarakis SE , EpsteinCJ . The challenge of Down syndrome . Trends Mol. Med.12 ( 10 ), 473 – 479 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Curry CJ . Autosomal trisomies . In : Emery & Rimoin’s Principles and Practice of Medical Genetics (6th Edition) . RimoinDL , PyeritzRE , KorfBR ( Eds ). Elsevier Science, NY, USA ( 2013 ).
   Google Scholar
• Bratman SV , HorstKC , CarlsonRW , KappDS . Solid malignancies in individuals with Down syndrome: a case presentation and literature review . J. Natl Compr. Canc. Netw.12 ( 11 ), 1537 – 1545 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Yang A , ReevesRH . Increased survival following tumorigenesis in Ts65Dn mice that model Down syndrome . Cancer Res.71 ( 10 ), 3573 – 3581 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Sussan TE , YangA , LiF , OstrowskiMC , ReevesRH . Trisomy represses Apc(Min)-mediated tumours in mouse models of Down’s syndrome . Nature451 ( 7174 ), 73 – 75 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Schupf N , KapellD , NightingaleB , RodriguezA , TyckoB , MayeuxR . Earlier onset of Alzheimer’s disease in men with Down syndrome . Neurology50 ( 4 ), 991 – 995 ( 1998 ).
   PubMedGoogle Scholar
• Zigman WB , JenkinsEC , TyckoB , SchupfN , SilvermanW . Mortality is associated with apolipoprotein E epsilon4 in nondemented adults with Down syndrome . Neurosci. Lett.390 ( 2 ), 93 – 97 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Lee JH , GurneyS , PangDet al. Polymorphisms in HSD17B1: early onset and increased risk of Alzheimer’s disease in women with Down syndrome . Curr. Gerontol. Geriatr. Res. 2012 , 361218 ( 2012 ).
   PubMedGoogle Scholar
• Schupf N , LeeA , ParkNet al. Candidate genes for Alzheimer’s disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome . Neurobiol. Aging36 ( 10 ), 2907.e2901 – 2910.e2901 ( 2015 ).
   Web of Science ®Google Scholar
• Hartley D , BlumenthalT , CarrilloMet al. Down syndrome and Alzheimer’s disease: common pathways, common goals . Alzheimers Dement.11 ( 6 ), 700 – 709 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Zhang L , FuD , BelichenkoPVet al. Genetic analysis of Down syndrome facilitated by mouse chromosome engineering . Bioeng. Bugs3 ( 1 ), 8 – 12 ( 2012 ).
   PubMedGoogle Scholar
• Jiang X , LiuC , YuTet al. Genetic dissection of the Down syndrome critical region . Hum. Mol. Genet.24 ( 22 ), 6540 – 6551 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Xing Z , LiY , PaoAet al. Mouse-based genetic modeling and analysis of Down syndrome . Br. Med. Bull. ( 2016 ) ( Epub ahead of print ).
   PubMed Web of Science ®Google Scholar
• Xing L , SalasM , ZhangHet al. Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1) . Mamm. Genome24 ( 1–2 ), 30 – 43 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Smith DJ , StevensME , SudanaguntaSPet al. Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome . Nat. Genet.16 ( 1 ), 28 – 36 ( 1997 ).
   PubMed Web of Science ®Google Scholar
• Reeves RH , IrvingNG , MoranTHet al. A mouse model for Down syndrome exhibits learning and behaviour deficits . Nat. Genet.11 ( 2 ), 177 – 184 ( 1995 ).
   PubMed Web of Science ®Google Scholar
• Ruparelia A , WisemanF , SheppardO , TybulewiczVL , FisherEM . Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21 . J. Biomed. Res.24 ( 2 ), 87 – 99 ( 2010 ).
   PubMedGoogle Scholar
• O’doherty A , RufS , MulliganCet al. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes . Science309 ( 5743 ), 2033 – 2037 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Liu C , MorishimaM , JiangXet al. Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice . Hum. Genet.133 ( 6 ), 743 – 753 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Yu T , LiZ , JiaZet al. A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions . Hum. Mol. Genet.19 ( 14 ), 2780 – 2791 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Yu T , LiuC , BelichenkoPet al. Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice . Brain Res.1366 , 162 – 171 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Lange AW , RothermelBA , YutzeyKE . Restoration of DSCR1 to disomy in the trisomy 16 mouse model of Down syndrome does not correct cardiac or craniofacial development anomalies . Dev. Dyn.233 ( 3 ), 954 – 963 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Blazek JD , AbeysekeraI , LiJ , RoperRJ . Rescue of the abnormal skeletal phenotype in Ts65Dn Down syndrome mice using genetic and therapeutic modulation of trisomic Dyrk1a . Hum. Mol. Genet.24 ( 20 ), 5687 – 5696 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Liu C , MorishimaM , YuTet al. Genetic analysis of Down syndrome-associated heart defects in mice . Hum. Genet.130 ( 5 ), 623 – 632 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Xing L , SalasM , LinCSet al. Faithful tissue-specific expression of the human chromosome 21-linked COL6A1 gene in BAC-transgenic mice . Mamm. Genome18 ( 2 ), 113 – 122 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Alford KA , SlenderA , VanesLet al. Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome . Blood115 ( 14 ), 2928 – 2937 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Kirsammer G , JilaniS , LiuHet al. Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome . Blood111 ( 2 ), 767 – 775 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Jablonska B , FordD , TrislerD , PessacB . The growth capacity of bone marrow CD34 positive cells in culture is drastically reduced in a murine model of Down syndrome . C R Biol329 ( 9 ), 726 – 732 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Belichenko PV , KleschevnikovAM , BeckerAet al. Down syndrome cognitive phenotypes modeled in mice trisomic for all HSA 21 homologues . PLoS ONE10 ( 7 ), e0134861 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Ahmed MM , DhanasekaranAR , TongSet al. Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain . Hum. Mol. Genet.22 ( 9 ), 1709 – 1724 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Seo H , IsacsonO . Abnormal APP, cholinergic and cognitive function in Ts65Dn Down’s model mice . Exp. Neurol.193 ( 2 ), 469 – 480 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Park J , OhY , YooLet al. Dyrk1A phosphorylates p53 and inhibits proliferation of embryonic neuronal cells . J. Biol. Chem.285 ( 41 ), 31895 – 31906 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Wolvetang EW , BradfieldOM , TymmsMet al. The chromosome 21 transcription factor ETS2 transactivates the beta-APP promoter: implications for Down syndrome . Biochim. Biophys. Acta1628 ( 2 ), 105 – 110 ( 2003 ).
   PubMedGoogle Scholar
• Hoeffer CA , DeyA , SachanNet al. The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling . J. Neurosci.27 ( 48 ), 13161 – 13172 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Torres EM , SokolskyT , TuckerCMet al. Effects of aneuploidy on cellular physiology and cell division in haploid yeast . Science317 ( 5840 ), 916 – 924 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Torres EM , SpringerM , AmonA . No current evidence for widespread dosage compensation in S. cerevisiae . Elife5 , e10996 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Kahlem P , SultanM , HerwigRet al. Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down syndrome . Genome Res.14 ( 7 ), 1258 – 1267 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Lyle R , GehrigC , Neergaard-HenrichsenC , DeutschS , AntonarakisSE . Gene expression from the aneuploid chromosome in a trisomy mouse model of Down syndrome . Genome Res.14 ( 7 ), 1268 – 1274 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Vacik T , OrtM , GregorovaSet al. Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes . Proc. Natl Acad. Sci. USA102 ( 12 ), 4500 – 4505 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Mao R , ZielkeCL , ZielkeHR , PevsnerJ . Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain . Genomics81 ( 5 ), 457 – 467 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Saran NG , PletcherMT , NataleJE , ChengY , ReevesRH . Global disruption of the cerebellar transcriptome in a Down syndrome mouse model . Hum. Mol. Genet.12 ( 16 ), 2013 – 2019 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Li CM , GuoM , SalasMet al. Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21 . BMC Med. Genet.7 , 24 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Prandini P , DeutschS , LyleRet al. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance . Am. J. Hum. Genet.81 ( 2 ), 252 – 263 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Costa V , AngeliniC , D’apiceLet al. Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21 . PLoS ONE6 ( 4 ), e18493 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Kerkel K , SchupfN , HattaKet al. Altered DNA methylation in leukocytes with trisomy 21 . PLoS Genet.6 ( 11 ), e1001212 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Sailani MR , SantoniFA , LetourneauAet al. DNA-methylation patterns in trisomy 21 using cells from monozygotic twins . PLoS ONE10 ( 8 ), e0135555 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Jones MJ , FarreP , McewenLMet al. Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in Down syndrome . BMC Med. Genomics6 , 58 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Eckmann-Scholz C , BensS , KolarovaJet al. DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples . PLoS ONE7 ( 6 ), e39014 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Bacalini MG , GentiliniD , BoattiniAet al. Identification of a DNA methylation signature in blood cells from persons with Down syndrome . Aging (Albany NY)7 ( 2 ), 82 – 96 ( 2015 ).
   PubMedGoogle Scholar
• Alves Da Silva AF , MachadoFB , PavarinoECet al. Trisomy 21 Alters DNA methylation in parent-of-origin-dependent and -independent manners . PLoS ONE11 ( 4 ), e0154108 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Mendioroz M , DoC , JiangXet al. Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models . Genome Biol.16 ( 1 ), 263 ( 2015 ).
   PubMedGoogle Scholar
• Lim JH , KimSY , HanJY , KimMY , ParkSY , RyuHM . Comprehensive investigation of DNA methylation and gene expression in trisomy 21 placenta . Placenta42 , 17 – 24 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Hatt L , AagaardMM , BachCet al. Microarray-based analysis of methylation of 1st trimester trisomic placentas from Down syndrome, Edwards syndrome and Patau syndrome . PLoS ONE11 ( 8 ), e0160319 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Yuen RK , NeumannSM , FokAKet al. Extensive epigenetic reprogramming in human somatic tissues between fetus and adult . Epigenetics Chromatin4 , 7 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Horvath S , GaragnaniP , BacaliniMGet al. Accelerated epigenetic aging in Down syndrome . Aging Cell14 ( 3 ), 491 – 495 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• El Hajj N , DittrichM , BockJet al. Epigenetic dysregulation in the developing Down syndrome cortex . Epigenetics11 ( 8 ), 563 – 578 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Matevossian A , AkbarianS . Neuronal nuclei isolation from human postmortem brain tissue . J. Vis. Exp. ( 20 ), pii: 914 ( 2008 ).
   Google Scholar
• PubMed . Gene expression omnibus . www.ncbi.nlm.nih.gov/geo/ .
   Google Scholar
• Devenny DA , WegielJ , SchupfNet al. Dementia of the Alzheimer’s type and accelerated aging in Down syndrome . Sci. Aging Knowledge Environ.2005 ( 14 ), dn1 ( 2005 ).
   PubMedGoogle Scholar
• Weirich-Schwaiger H , WeirichHG , GruberB , SchweigerM , Hirsch-KauffmannM . Correlation between senescence and DNA repair in cells from young and old individuals and in premature aging syndromes . Mutat. Res.316 ( 1 ), 37 – 48 ( 1994 ).
   PubMedGoogle Scholar
• Letourneau A , SantoniFA , BonillaXet al. Domains of genome-wide gene expression dysregulation in Down’s syndrome . Nature508 ( 7496 ), 345 – 350 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Blehaut H , MircherC , RavelAet al. Effect of leucovorin (folinic acid) on the developmental quotient of children with Down’s syndrome (trisomy 21) and influence of thyroid status . PLoS ONE5 ( 1 ), e8394 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Kim IS , LeeM , ParkKCet al. Roles of Mis18alpha in epigenetic regulation of centromeric chromatin and CENP-A loading . Mol. Cell46 ( 3 ), 260 – 273 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Ooi SK , QiuC , BernsteinEet al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA . Nature448 ( 7154 ), 714 – 717 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Bourc’his D , XuGL , LinCS , BollmanB , BestorTH . Dnmt3L and the establishment of maternal genomic imprints . Science294 ( 5551 ), 2536 – 2539 ( 2001 ).
   PubMed Web of Science ®Google Scholar
• Suzuki M , YamadaT , Kihara-NegishiFet al. Site-specific DNA methylation by a complex of PU.1 and Dnmt3a/b . Oncogene25 ( 17 ), 2477 – 2488 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Williams A , FlavellRA . The role of CTCF in regulating nuclear organization . J. Exp. Med.205 ( 4 ), 747 – 750 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Ong CT , CorcesVG . CTCF: an architectural protein bridging genome topology and function . Nat. Rev. Genet.15 ( 4 ), 234 – 246 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Do C , LangCF , LinJet al. Mechanisms and disease associations of haplotype-dependent allele-specific DNA methylation . Am. J. Hum. Genet.98 ( 5 ), 934 – 955 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Anvar Z , CammisaM , RisoVet al. ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells . Nucleic Acids Res.44 ( 3 ), 1118 – 1132 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Hu S , WanJ , SuYet al. DNA methylation presents distinct binding sites for human transcription factors . Elife2 , e00726 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Xu T , LiB , ZhaoMet al. Base-resolution methylation patterns accurately predict transcription factor bindings in vivo . Nucleic Acids Res.43 ( 5 ), 2757 – 2766 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Hill CA , SussanTE , ReevesRH , RichtsmeierJT . Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic ‘Down syndrome’ mice . Am. J. Med. Genet A149A ( 10 ), 2158 – 2165 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Chakrabarti L , BestTK , CramerNPet al. Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome . Nat. Neurosci.13 ( 8 ), 927 – 934 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Warner LE , GarciaCA , LupskiJR . Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms . Annu. Rev. Med.50 , 263 – 275 ( 1999 ).
   PubMed Web of Science ®Google Scholar
• Gropman AL , ElseaS , DuncanWCJr , SmithAC . New developments in Smith-Magenis syndrome (del 17p11.2) . Curr. Opin. Neurol.20 ( 2 ), 125 – 134 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Vilboux T , CicconeC , BlancatoJKet al. Molecular analysis of the retinoic acid induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion . PLoS ONE6 ( 8 ), e22861 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Schubert C . The genomic basis of the Williams-Beuren syndrome . Cell. Mol. Life Sci.66 ( 7 ), 1178 – 1197 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Fusco C , MicaleL , AugelloBet al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits . Eur. J. Hum. Genet.22 ( 1 ), 64 – 70 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Bittel DC , YuS , NewkirkHet al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH . Cytogenet. Genome Res.124 ( 2 ), 113 – 120 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Merscher S , FunkeB , EpsteinJAet al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome . Cell104 ( 4 ), 619 – 629 ( 2001 ).
   PubMed Web of Science ®Google Scholar
• Magoulas PL , LiuP , GelowaniVet al. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome . Am. J. Med. Genet A164A ( 2 ), 500 – 504 ( 2014 ).
   PubMedGoogle Scholar
• Barber JC , RosenfeldJA , FouldsNet al. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients . Am. J. Med. Genet A161A ( 3 ), 487 – 500 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Lindsay EA , BottaA , JurecicVet al. Congenital heart disease in mice deficient for the DiGeorge syndrome region . Nature401 ( 6751 ), 379 – 383 ( 1999 ).
   PubMed Web of Science ®Google Scholar
• Carmona-Mora P , MolinaJ , EncinaCA , WalzK . Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes . Curr. Genomics10 ( 4 ), 259 – 268 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Molina J , Carmona-MoraP , ChrastJet al. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome . Hum. Mol. Genet.17 ( 16 ), 2486 – 2495 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Segura-Puimedon M , SahunI , VelotEet al. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder . Hum. Mol. Genet.23 ( 24 ), 6481 – 6494 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Tsai TF , JiangYH , BresslerJ , ArmstrongD , Beaudet al. Paternal deletion from SNRPN to UBE3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome . Hum. Mol. Genet.8 ( 8 ), 1357 – 1364 ( 1999 ).
   PubMed Web of Science ®Google Scholar
• Walz K , Caratini-RiveraS , BiWet al. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance . Mol. Cell Biol.23 ( 10 ), 3646 – 3655 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Christian SL , BruneCW , SudiJet al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder . Biol. Psychiatry63 ( 12 ), 1111 – 1117 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Ye T , LipskaBK , TaoRet al. Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders . Biol. Psychiatry72 ( 8 ), 651 – 654 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Ahn K , GotayN , AndersenTMet al. High rate of disease-related copy number variations in childhood onset schizophrenia . Mol. Psychiatry19 ( 5 ), 568 – 572 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Girirajan S , DennisMY , BakerCet al. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder . Am. J. Hum. Genet.92 ( 2 ), 221 – 237 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Benn P . Trisomy 16 and trisomy 16 Mosaicism: a review . Am. J. Med. Genet.79 ( 2 ), 121 – 133 ( 1998 ).
   PubMed Web of Science ®Google Scholar
• Blair JD , LangloisS , McfaddenDE , RobinsonWP . Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia . Placenta35 ( 3 ), 216 – 222 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Von Hansemann DP . Über asymmetrische Zelltheilung in Epithelkrebsen und deren biologische Bedeutung . Virchow’s Archiv für pathologische Anatomie und Physiologie und für klinische Medicin779 , 299 – 326 ( 1890 ).
   Google Scholar
• Mitelman F , JohanssonB , MertensF . Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer . http://cgap.nci.nih.gov/Chromosomes/Mitelman .
   Google Scholar
• Upender MB , HabermannJK , McshaneLMet al. Chromosome transfer induced aneuploidy results in complex dysregulation of the cellular transcriptome in immortalized and cancer cells . Cancer Res.64 ( 19 ), 6941 – 6949 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Duesberg P . Does aneuploidy or mutation start cancer?Science307 ( 5706 ), 41 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Ciriello G , MillerML , AksoyBA , SenbabaogluY , SchultzN , SanderC . Emerging landscape of oncogenic signatures across human cancers . Nat. Genet.45 ( 10 ), 1127 – 1133 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Liu Z , ZhangS . Tumor characterization and stratification by integrated molecular profiles reveals essential pan-cancer features . BMC Genomics16 , 503 ( 2015 ).
   PubMed Web of Science ®Google Scholar