The DOI matches its Crossref record; 94 of the 94 references it cites were found in a registry or an index.
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.
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“Approximately 70% of cases are due to a genetic deletion on chromosome 15 (15q11–13), 25% of cases are due to a maternal uniparental disomy of chromosome 15, and the remaining cases result from imprinting defects [671,672].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [672]
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Metadata
- Authors
- Nicholls, R. D., & Knepper, J. L.
- Affiliations
- University of Pennsylvania (US)
- ORCID
- Nicholls, Robert D.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2001-09
- Volume
- 2
- Issue
- 1
- Pages
- 153-175
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2115212748
- Cited by
- 625
- References
- 94
- Citations by year
- 2026: 1 · 2025: 8 · 2024: 8 · 2023: 18 · 2022: 12 · 2021: 10 · 2020: 17 · 2019: 15 · 2018: 14 · 2017: 12 · 2016: 22 · 2015: 16 · 2014: 21 · 2013: 32 · 2012: 30
- FWCI
- 3.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01hd036079-06, 5r01hd036436-03)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-36436, HD31491, R01HD031491, HD36079)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Prader-Willi syndrome, Angelman syndrome, 15q11-q13, genomic imprinting, imprinting center, paternally expressed genes, UBE3A, DNA methylation, DNA replication timing, chromatin structure, epigenetics, chromosomal rearrangements
- MeSH terms
- Animals, Chromosomes, Human, Pair 15, Humans, Prader-Willi Syndrome, Angelman Syndrome, Genomic Imprinting, DNA Methylation
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