Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
Open accessAbstract
We have identified three C/D-box small nucleolar RNAs (snoRNAs) and one H/ACA-box snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and MBI-36) are exclusively expressed in the brain, unlike all other known snoRNAs. Two of the human RNA orthologues (HBII-52 and HBI-36) share this expression pattern, and the remainder, HBII-13 and HBII-85, are prevalently expressed in that tissue. In mice and humans, the brain-specific H/ACA box snoRNA (MBI-36 and HBI-36, respectively) is intron-encoded in the brain-specific serotonin 2C receptor gene. The three human C/D box snoRNAs map to chromosome 15q11–q13, within a region implicated in the Prader–Willi syndrome (PWS), which is a neurogenetic disease resulting from a deficiency of paternal gene expression. Unlike other C/D box snoRNAs, two snoRNAs, HBII-52 and HBII-85, are encoded in a tandemly repeated array of 47 or 24 units, respectively. In mouse the homologue of HBII-52 is processed from intronic portions of the tandem repeats. Interestingly, these snoRNAs were absent from the cortex of a patient with PWS and from a PWS mouse model, demonstrating their paternal imprinting status and pointing to their potential role in the etiology of PWS. Despite displaying hallmarks of the two families of ubiquitous snoRNAs that guide 2′-O-ribose methylation and pseudouridylation of rRNA, respectively, they lack any telltale rRNA complementarity. Instead, brain-specific C/D box snoRNA HBII-52 has an 18-nt phylogenetically conserved complementarity to a critical segment of serotonin 2C receptor mRNA, pointing to a potential role in the processing of this mRNA.
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SNORD116 is expressed exclusively from the paternally inherited allele, whereas maternally inherited alleles of UBE3A are linked to PWS.
“For example, SNORD116 is expressed exclusively from the paternally inherited allele113, whereas maternally inherited alleles of UBE3A are linked to PWS119,120.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [113]
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“2 and 15q11–13 domains, expressed from paternally and maternally inherited alleles (Cavaillé, 2017; Cavaille et al., 2000; Cavaillé et al., 2002; Chamberlain, 2013; Chung et al., 2020; Kishore et al., 2010).”
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Self-citation
- Authors
- Cavaillé, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C. I., Horsthemke, B., Bachellerie, J.-P., Brosius, J., & Hüttenhofer, A.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2000-12-05
- Volume
- 97
- Issue
- 26
- Pages
- 14311-14316
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC18915
- OpenAlex
- W2003849576
- Cited by
- 601
- References
- 37
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 8 · 2023: 12 · 2022: 16 · 2021: 33 · 2020: 22 · 2019: 18 · 2018: 21 · 2017: 11 · 2016: 24 · 2015: 13 · 2014: 22 · 2013: 23 · 2012: 26
- FWCI
- 17.29
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- small nucleolar RNA, box C/D snoRNA, brain-specific expression, genomic imprinting, paternal gene expression, Prader-Willi syndrome, chromosome 15q11-q13, 5-HT2C receptor, tandem repeat arrays, mRNA processing, 2'-O-ribose methylation, pseudouridylation, rRNA modification
- MeSH terms
- Animals, Base Sequence, Brain, Cell Line, Chromosome Mapping, Humans, Molecular Sequence Data, Tissue Distribution, DNA, Complementary, Genomic Imprinting, Tandem Repeat Sequences, RNA, Small Nucleolar, Mice, Rats
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