Seminars in Pediatric Neurology
Volume 14, Issue 1 , Pages 7-14 , March 2007

Mechanisms of Disease: Epigenesis

  • Darrel Waggoner, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Darrel Waggoner, MD, Department of Human Genetics, University of Chicago, 5841 S Maryland Avenue M/C 0077, Chicago, IL 60637.

References 

  1. Rodenhiser D, Mann M. Epigenetics and human disease: Translating basic biology into clinical applications. CMAJ. 2006;174:341–348
  2. Strachan T, Read AP. Human Molecular Genetics. New York: Wiley-Liss; 2003;
  3. Jiang Y, Bressler J, Beaudet AL. Epigenetics and human disease. Annu Rev Genomics Hum Genet. 2004;5:479–510
  4. Egger G, Liang G, Aparicio A, et al. Epigenetics in human disease and prospects for epigenetic therapy. Nature. 2004;429:457–463
  5. Ausio J, Levin DB, de Amorim GV, et al. Syndromes of disordered chromatin remodeling. Clin Genet. 2003;64:83–95
  6. Jones KL. Smith’s Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier; 2006;
  7. Stevens CA. Rubinstein-Taybi Syndrome. 2006;Available at: http://www.geneclinics.org/. Accessed August 21
  8. Murata T, Kurokawa R, Krones A, et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubenstein-Taybi syndrome. Hum Mol Genet. 2001;10:1071–1076
  9. Coupry I, Roudaut C, Stef M, et al. Molecular analysis of the CBP gene in 60 patients with Rubenstien-Taybi syndrome. J Med Genet. 2002;39:415–421
  10. Mayr BM, Canettieri G, Montiminy MR. Distance effect of cAMP and mitogenic signals on CREB-binding protein recruitment impart specificity to target gene activation via CREB. Proc Natl Acad Sci U S A. 2001;98:10936–10941
  11. Janknecht R, Hunter T. Versatile molecular glue: Transcriptional control. Curr Biol. 1996;6:951–954
  12. Hunter AGW, Schwartz CE, Abidi F. Coffin Lowry Syndrome. 2006;Available at: http://www.geneclinics.org/. Accessed August 21
  13. Biancalana V, Briard ML, David A, et al. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am J Hum Genet. 1992;50:981–987
  14. Martinez F, Martinez-Garay I, Millian JM, et al. Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. Am J Hum Genet. 2001;102:200–204
  15. Harum KH, Alemi L, Johnson MV. Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. Neurology. 2001;56:207–214
  16. Trivier E, De Cesare D, Jacquot S, et al. Mutations in the Rsk-2 associated with Coffin-Lowry syndrome. Nature. 1996;384:567–570
  17. Sassone-Corsi P, Mizzen CA, Cheung P, et al. Requirement of Rsk-2 for epidermal growth factor activated phosphorylation of histone H3. Science. 1999;285:886–891
  18. Stevenson RE. Alpha-thalassmia X-linked mental retardation syndrome. 2006;Available at: http://www.geneclinics.org/. Accessed August 21
  19. Tang J, Wu S, Liu H, et al. A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. J Biol Chem. 2004;279:20369–20377
  20. Tang P, Park DJ, Graves JAM, et al. ATRX and sex diffentiation. Trends Endocrinol Metab. 2004;15:339–344
  21. Colvin L, Leonard H, de Klerk N, et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet. 2004;41:25–30
  22. Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–188
  23. Martinowich K, Hattori D, Wu H, et al. DNA methylation related chromatin remodeling in activity dependent BDNF gene regulation. Science. 2003;302:890–893
  24. Mattick JS. Challenging the dogma: The hidden layer of non-protein-coding RNAs in complex organisms. Bioessays. 2003;25:930–939
  25. Aigner A. Gene silencing through RNA interference (RNAi) in vivo: Strategies based on the direct application of siRNAs. J Biotechnol. 2006;124:12–25
  26. Pushparaj P, Melendez A. Short interfering RNA (siRNA) as a novel therapeutic. Clin Exp Pharmacol Physiol. 2006;33:504–510
  27. Jin P, Zarnescu DC, Ceman S, et al. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004;7:113–117
  28. Wutz A. RNAs templating chromatin structure for dosage compensation in animals. Bioessays. 2003;25:434–442
  29. Yamasaki K, Joh K, Ohta T, et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet. 2003;12:837–847
  30. Williams CA, Driscoll DJ. Angelman syndrome. 2006;Available at: http://www.geneclinics.org/. Accessed August 21
  31. Jiang Y, Lev-Lehman E, Bressler J, et al. Genetics of Angelman syndrome. Am J Hum Genet. 1999;65:1–6
  32. Cassidy SB, Schwartz S. Prader-Willi syndrome. 2006;Available at: http://www.geneclinics.org/. Accessed August 21
  33. Buiting K, Grob S, Lich C, et al. Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003;72:571–577
  34. Saunthararajah Y, Hillery CA, Lavelle D, et al. Effects of 5-aza-2′-deoxycytidine on fetal haemoglobin levels, red cell adhesion, and hematopoietic differentiation in patients with sickle cell disease. Blood. 2003;102:3865–3870

PII: S1071-9091(06)00161-6

doi: 10.1016/j.spen.2006.11.004

Seminars in Pediatric Neurology
Volume 14, Issue 1 , Pages 7-14 , March 2007

Article Tools

* Image Usage & Resolution