Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
- PMID: 11701647
- DOI: 10.1146/annurev.genom.2.1.153
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
Abstract
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes (PWS and AS) represents a paradigm for understanding the relationships between genome structure, epigenetics, evolution, and function. The PWS/AS region is conserved in organization and function with the homologous mouse chromosome 7C region. However, the primate 4 Mb PWS/AS region is bounded by duplicons derived from an ancestral HERC2 gene and other sequences that may predispose to chromosome rearrangements. Within a 2 Mb imprinted domain, gene function depends on parental origin. Genetic evidence suggests that PWS arises from functional loss of several paternally expressed genes, including those that function as RNAs, and that AS results from loss of maternal UBE3A brain-specific expression. Imprinted expression is coordinately controlled in cis by an imprinting center (IC), a genetic element functional in germline and/or early postzygotic development that regulates the establishment of parental specific allelic differences in replication timing, DNA methylation, and chromatin structure.
Similar articles
-
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.Mol Hum Reprod. 1997 Apr;3(4):321-32. doi: 10.1093/molehr/3.4.321. Mol Hum Reprod. 1997. PMID: 9237260 Review.
-
Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Epigenetics. 2014 Nov;9(11):1540-56. doi: 10.4161/15592294.2014.969667. Epigenetics. 2014. PMID: 25482058 Free PMC article.
-
The imprinting box of the Prader-Willi/Angelman syndrome domain.Nat Genet. 2000 Dec;26(4):440-3. doi: 10.1038/82571. Nat Genet. 2000. PMID: 11101841
-
Imprinting in Prader-Willi and Angelman syndromes.Trends Genet. 1998 May;14(5):194-200. doi: 10.1016/s0168-9525(98)01432-2. Trends Genet. 1998. PMID: 9613204 Review.
-
A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.Genomics. 2005 May;85(5):630-40. doi: 10.1016/j.ygeno.2005.02.004. Genomics. 2005. PMID: 15820315
Cited by
-
Germline and somatic imprinting in the nonhuman primate highlights species differences in oocyte methylation.Genome Res. 2015 May;25(5):611-23. doi: 10.1101/gr.183301.114. Epub 2015 Apr 10. Genome Res. 2015. PMID: 25862382 Free PMC article.
-
The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1.Sci Rep. 2016 Jul 19;6:29878. doi: 10.1038/srep29878. Sci Rep. 2016. PMID: 27430727 Free PMC article.
-
Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome.Am J Med Genet A. 2007 Mar 1;143A(5):415-21. doi: 10.1002/ajmg.a.31687. Am J Med Genet A. 2007. PMID: 17304548 Free PMC article.
-
Recent assembly of an imprinted domain from non-imprinted components.PLoS Genet. 2006 Oct;2(10):e182. doi: 10.1371/journal.pgen.0020182. PLoS Genet. 2006. PMID: 17069464 Free PMC article.
-
Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin.Am J Pathol. 2005 Jul;167(1):175-91. doi: 10.1016/S0002-9440(10)62964-1. Am J Pathol. 2005. PMID: 15972963 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous
