Cited by 625Genetic Syndromes and ImprintingGenomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

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Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

Nicholls, Robert D., Knepper, Jessica L.·2001·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev.genom.2.1.153

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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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Self-citation

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
DOI: 10.1146/annurev.genom.2.1.153
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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Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

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