Types
11p15.5
- Beckwith-Wiedemann syndrome (MIM.130650)
- Silver-Russel syndrome (MIM.180860).
15q11-q13
See also
imprinted loci
Pathology references
Ubeda F, Wilkins JF. Imprinted genes and human disease: an evolutionary perspective. Adv Exp Med Biol. 2008;626:101-15. PMID: 18372794
Vigé A, Gallou-Kabani C, Junien C. Sexual dimorphism in non-Mendelian inheritance.Pediatr Res. 2008 Apr;63(4):340-7. PMID: 18356736
Temple IK. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Endocr Dev. 2007;12:113-23. PMID: 17923774
Tang WY, Ho SM. Epigenetic reprogramming and imprinting in origins of disease. Rev Endocr Metab Disord. 2007 Jun;8(2):173-82. PMID: 17638084
Feinberg AP. Phenotypic plasticity and the epigenetics of human disease. Nature. 2007 May 24;447(7143):433-40. PMID: 17522677
Waggoner D. Mechanisms of disease: epigenesis. Semin Pediatr Neurol. 2007 Mar;14(1):7-14. PMID: 17331879
Moss TJ, Wallrath LL. Connections between epigenetic gene silencing and human disease. Mutat Res. 2007 May 1;618(1-2):163-74. PMID: 17306846
Santos-Rebouças CB, Pimentel MM. Implication of abnormal epigenetic patterns for human diseases.Eur J Hum Genet. 2007 Jan;15(1):10-7. PMID: 17047674
Walter J, Paulsen M. Imprinting and disease. Semin Cell Dev Biol. 2003 Feb;14(1):101-10. PMID: 12524013
Physiopathology references
Hore TA, Rapkins RW, Graves JA. Construction and evolution of imprinted loci in mammals. Trends Genet. 2007 Sep;23(9):440-8. PMID: 17683825
da Rocha ST, Ferguson-Smith AC. Genomic imprinting. Curr Biol. 2004 Aug 24;14(16):R646-9. Review. No abstract available. PMID: 15324678
Delaval K, Feil R. Epigenetic regulation of mammalian genomic imprinting. Curr Opin Genet Dev. 2004 Apr;14(2):188-95. PMID: 15196466
Oakey RJ, Beechey CV. Imprinted genes: identification by chromosome rearrangements and post-genomic strategies. Trends Genet. 2002 Jul;18(7):359-66. PMID: 12127776
Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet. 2001 Jan;2(1):21-32. PMID: 11253064
Pfeifer K. Mechanisms of genomic imprinting. Am J Hum Genet. 2000 Oct;67(4):777-87. Epub 2000 Sep 05. PMID: 10986038
Feil R, Khosla S. Genomic imprinting in mammals: an interplay between chromatin and DNA methylation? Trends Genet. 1999 Nov;15(11):431-5. PMID: 10529801
Horsthemke B. Epimutations in human disease. Curr Top Microbiol Immunol. 2006;310:45-59. PMID: 16909906
Millington GW. Genomic imprinting and dermatological disease. Clin Exp Dermatol. 2006 Sep;31(5):681-8. PMID: 16901310
Morison IM, Reeve AE. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet. 1998;7(10):1599-609. PMID: 9735381