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Cited by 35Genetic Syndromes and ImprintingChromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

RNAs of the human chromosome 15q11-q13 imprinted region

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Chamberlain, Stormy J.·2013·WIREs RNA
DOI 10.1002/wrna.1150PMC PMC3578059
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Abstract

The human chromosome 15q11‐q13 region hosts a wide variety of coding and noncoding RNAs, and is also the site of nearly every imaginable type of RNA processing. To deepen the intrigue, the transcripts in the human chromosome 15q11‐q13 region are subject to regulation by genomic imprinting, and some of these transcripts are imprinted in a tissue‐specific manner. As the region is critically important for three human neurogenetic disorders, Angelman syndrome, Prader‐Willi syndrome, and 15q duplication syndrome, there is intense interest in understanding the types of RNA and RNA processing that occurs among the imprinted genes. This review summarizes what is known about the various RNAs within the imprinted domain, including a novel type of RNA that was only very recently identified. WIREs RNA 2013, 4:155–166. doi: 10.1002/wrna.1150 This article is categorized under: RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development

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  • SNORD115 is expressed exclusively in brain and specifically in neurons.

    “this cluster of ncRNAs is expressed exclusively in brain and specifically in neurons (Bortolin-Cavaille and Cavaille, 2012; Cavaillé, 2017; Chamberlain, 2013; Chamberlain and Lalande, 2010b; Chung et al., 2020; Keshavarz et al., 2020; Wevrick et al., 1994).”

    From Small nucleolar RNAs in plasma extracellular vesicles and their discriminatory power as diagnostic biomarkers of Alzheimer's disease (2021) · cites this paper as Chamberlain, 2013

    The Non-coding RNAs section (page not available) says the brain-only portion of the SNURF-SNRPN transcript serves as the host for SNORD115/HBII-52, supporting brain-specific expression. It does not say that SNORD115 expression is restricted to neurons within the brain; the Conclusions instead call for comparisons of neuronal and non-neuronal RNAs. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

  • SNORD115 and SNORD116 are clustered in intronic regions of an imprinted host gene and are known to be expressed predominantly (SNORD116) or exclusively (SNORD115) in brain.

    “SNORD115 and SNORD116 are clustered in intronic regions of an imprinted host gene and are known to be expressed predominantly – SNORD116, or exclusively – SNORD115, in brain (Cavaillé, 2017; Chamberlain, 2013; Chamberlain and Lalande, 2010a; Chung et al., 2020; Driedonks et al., 2018; Irimie et al., 2018; Lässer et al., 2016).”

    From Small nucleolar RNAs in plasma extracellular vesicles and their discriminatory power as diagnostic biomarkers of Alzheimer's disease (2021) · cites this paper as Chamberlain, 2013

    The Non-coding RNAs section identifies SNORD115 and SNORD116 as clusters processed from introns of the SNURF-SNRPN host transcript. It says the portion hosting SNORD115 is expressed only in brain. The Human-Mouse shared synteny section says human non-coding RNAs in the region before IPW are expressed in a variety of cell types; it does not establish that SNORD116 expression is predominantly in brain. Page numbers are not available in our copy. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • All genes of the SNORD115 cluster are exclusively expressed in brain.

    “All genes of SNORD115 cluster, for example are exclusively expressed in brain (Chamberlain, 2013; Jorjani et al., 2016; Rogelj, 2006).”

    From Small nucleolar RNAs in plasma extracellular vesicles and their discriminatory power as diagnostic biomarkers of Alzheimer's disease (2021) · cites this paper as Chamberlain, 2013

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Research works printed but not linked: 80

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Cited by

Sorted by citations

Authors
Chamberlain, S. J.
Affiliations
UConn Health (US)
Corresponding author
Chamberlain, Stormy J.
ORCID
Chamberlain, Stormy J.
Venue
WIREs RNA
Publisher
Wiley
Published
2012-12-03
Volume
4
Issue
2
Pages
155-166
ISSN
  • 1757-7004 (ISSN-L)
  • 1757-7012
DOI
10.1002/wrna.1150
PMC
PMC3578059
OpenAlex
W2018293583
Cited by
35
References
2
Citations by year
2026: 1 · 2024: 1 · 2023: 1 · 2022: 5 · 2021: 5 · 2019: 3 · 2018: 5 · 2017: 2 · 2016: 3 · 2015: 3 · 2014: 6
FWCI
0.35
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Wiley Interdisciplinary Reviews - RNA (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Raymond and Beverly Sackler Foundation
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD068730)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
chromosome 15q11-q13, genomic imprinting, Angelman syndrome, Prader-Willi syndrome, RNA processing, non-coding RNA, tissue-specific imprinting, neurogenetic disorders
MeSH terms
Chromosomes, Human, Pair 15, Humans, RNA, Genomic Imprinting

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