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Epigenetics Volume 16, 2021 - Issue 9
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Research Paper

DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter

AM Raizisa C/o Dept. of Molecular Pathology, Canterbury Health Laboratories, Christchurch, New ZealandCorrespondence[email protected]
,
HM Racherb Department of Genetics, c/o Impact Genetics, Bowmanville, Ontario, Canada
,
A Foucalc Universit#é de Nantes, INSERM, l’institut du thorax, F-44000 Nantes, France
,
H Dimarasd Departments of Ophthalmology & Vision Sciences, The Hospital for Sick Children, Toronto, Canada;e Department of Ophthalmology & Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Canada;f Division of Clinical Public Health, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada;g Child Health Evaluative Sciences, SickKids Research Institute, Toronto, CanadaORCID Iconhttps://orcid.org/0000-0003-1164-2001
ORCID Icon,
BL Gallied Departments of Ophthalmology & Vision Sciences, The Hospital for Sick Children, Toronto, Canada;e Department of Ophthalmology & Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Canada;h Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada;i Departments of Molecular Genetics and Medical Biophysics, Faculty of Medicine, University of Toronto, Toronto, Canada
&
PM Georgej Department of Pathology, University of Otago, Christchurch, New Zealand
Pages 940-954 | Received 03 Jun 2020, Accepted 29 Sep 2020, Published online: 01 Dec 2020

References

  • Broaddus E1, Topham A, Singh AD. Incidence of retinoblastoma in the USA, 1975–2004. Br J Ophthalmol. 2009;93:21–23.
  • Fujita T, Ohtani-Fujita N, Sakai T, et al. Low frequency of oncogenic mutations in the core promoter region of the RB1 gene. Hum Mutat. 1999;13:410–411.
  • Ohtani-Fujita N, Dryja TP, Rapaport JM, et al. Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet. 1993;98:43–49.
  • Quiñonez-Silva G, Dávalos-Salas M, Recillas-Targa F, et al. Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene, a possible constitutive epimutation in hereditary retinoblastoma. Clin Epigenetics. 2016;8(8):1.
  • Brehm A, Miska EA, McCance DJ, et al. Retinoblastoma protein recruits histone deacetylase to repress transcription. Nature. 1998;391(6667):597–601.
  • Luo RX, Postigo AA, Dean DC. Rb interacts with histone deacetylase to repress transcription. Cell. 1998;92(4):463–473.
  • Ferreira R, Magnaghi-Jaulin L, Robin P, et al. The three members of the pocket proteins family share the ability to repress E2F activity through recruitment of a histone deacetylase. Proc Natl Acad Sci USA. 1998;95(18):10493–10498.
  • Tang J, Xie Y, Xu X, et al. Bidirectional transcription of Linc00441 and RB1 via H3K27 modification-dependent way promotes hepatocellular carcinoma Cell. Cell Death Dis. 2017;8(issue 3):page e 2675.
  • Zhou J, Shi J, Fu X, et al. Linc00441 interacts with DNMT1 to regulate RB1 gene methylation and expression in gastric cancer. Oncotarget. 2018;9:pp: 37471–37479.
  • Zhou Z, Giles KE. Felsenfeld G DNA·RNA triple helix formation can function as a cis-acting regulatory mechanism at the human β-globin locus PNAS March 26. Proc Nat Acad Sci. 2019;116:6130–6139.
  • Barrington C, Finn R, Hadjur S. Cohesin biology meets the loop extrusion model. Chromosome Res. 2017;25:51–60.
  • Phillips JE, Corces VG. “CTCF, master weaver of the genome”. Cell. 2009;137:1194–1211.
  • Cuddapah S, Jothi R, Schones DE, et al. “Global analysis of the insulator binding protein CTCF in chromatin barrier regions reveals demarcation of active and repressive domains”. Genome Res. 2009;19:24–32.
  • Rubio ED, Reiss DJ, Welcsh PL, et al. CTCF physically links cohesin to chromatin. Proc Natl Acad Sci USA. 2008;105:8309–8314.
  • De La Rosa-Velázquez A, Rincón-Arano H, Benítez-Bribiesca L, et al. Epigenetic regulation of the human retinoblastoma tumor suppressor gene promoter by CTCF. Cancer Res. 2007;67(6):2577–2585.
  • Temple MD, Murray V. Footprinting the ‘essential regulatory region’ of the retinoblastoma gene promoter in intact human cells. Int J Biochem Cell Biol. 2005;37(3):665–678.
  • Raizis AM, Schmitt F, Jost JP. A bisulfite method of 5-methylcytosine mapping that minimizes template degradation. Anal Biochem. 1995;226(1):161–166.
  • Leakey TI, Zielinski J, Siegfried RN, et al. A simple algorithm for quantifying DNA methylation levels on multiple independent CpG sites in bisulfite genomic sequencing electropherograms. Nucleic Acids Res. 2008;36:e64.
  • Moskalev EA, Zavgorodnij MG, Majorova SP, et al. Correction of PCR-bias in quantitative DNA methylation studies by means of cubic polynomial regression. Nucleic Acids Res. 2011;39:e77.
  • Dries D1, Baca K, Truss L, et al. Interstitial deletion of 13q and a 13; X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma. Ophthalmic Genet. 2003;24(3):175–180.
  • Ewens KG, Bhatti TR, Moran KA, et al. Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. Cancer Med. 2017;6(3):619–630.
  • Rogers KT, Higgins PD, Milla MM, et al. DP-2, a heterodimeric partner of E2F: identification and characterization of DP-2 proteins expressed in vivo. Proc Natl Acad Sci U S A. 1996;93:7594–7599.

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