ArticleAmerican journal of human genetics2000
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 129 citations in OpenAlex.
- Molecular pathways in placental-fetal development and disruption.Molecular and cellular endocrinology · 2024Review
- Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader-Willi Syndrome.Molecular biology and evolution · 2022Article
- The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets.Frontiers in cell and developmental biology · 2021Review
- Epigenetics in Prader-Willi Syndrome.Frontiers in genetics · 2021Review
- Functional diversity of small nucleolar RNAs.Nucleic acids research · 2020Article
- Non-Coding RNAs in Psychiatric Disorders and Suicidal Behavior.Frontiers in psychiatry · 2020Review
- Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome.Nature medicine · 2017Article
- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.Annals of pediatric endocrinology & metabolism · 2016Review
- Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics.Diseases (Basel, Switzerland) · 2016Article
- Genetic & epigenetic approach to human obesity.The Indian journal of medical research · 2014Review
- Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.Scientific reports · 2014Article
- Article
- Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.Clinical and translational science · 2013Article
- Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.Epigenetics & chromatin · 2013Article
- Long-lasting alterations to DNA methylation and ncRNAs could underlie the effects of fetal alcohol exposure in mice.Disease models & mechanisms · 2013Article
- Regulation of snoRNAs in cancer: close encounters with interferon.Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research · 2013Review
- 2012 William Allan Award: Adventures in cytogenetics.American journal of human genetics · 2013Article
- Serotonin and the regulation of mammalian energy balance.Frontiers in neuroscience · 2013Article
- Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2012Article
- Promoter-associated RNAs and promoter-targeted RNAs.Cellular and molecular life sciences : CMLS · 2012Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome is a complex neurodevelopmental disorder caused by the inactivation or deletion of imprinted, paternally expressed genes in chromosome band 15q11.2. We report the identification and characterization of PWCR1, a novel imprinted gene within that region, and its mouse orthologue, Pwcr1, which was mapped to the conserved syntenic region on mouse chromosome 7. Expressed only from the paternal allele, both genes require the imprinting-center regulatory element for expression and are transcribed from the same strand. They are intronless and do not appear to encode a protein product. High human/mouse sequence similarity (87% identity) is limited to a 99-bp region called "HMCR" (for "human-mouse conserved region"). The HMCR sequence has features of a C/D box small nucleolar RNA (snoRNA) and is represented in an abundant small transcript in both species. Located in nucleoli, snoRNAs serve as methylation guidance RNAs in the modification of ribosomal RNA and other small nuclear RNAs. In addition to the nonpolyadenylated small RNAs, larger polyadenylated PWCR1 transcripts are found in most human tissues, whereas expression of any Pwcr1 RNAs is limited to mouse brain. Genomic sequence analysis reveals the presence of multiple copies of PWCR1 and Pwcr1 that are organized within local tandem-repeat clusters. On a multispecies Southern blot, hybridization to an HMCR probe encoding the putative snoRNA is limited to mammals.
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