ArticlePloS one2012
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- CRISPR screening identifies TRIM27 as a destabilizer of the Smith-Magenis syndrome protein RAI1.Genetics · 2026Article
- Tunable, proteolytic dosage control of CRISPR-Cas systems enables precise gene therapy for dosage sensitive disorders.bioRxiv : the preprint server for biology · 2025Article
- Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.medRxiv : the preprint server for health sciences · 2025Article
- Circadian Regulation in Diurnal Mammals: Neural Mechanisms and Implications in Translational Research.Biology · 2024Review
- NovelJournal of personalized medicine · 2024Article
- A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.The Journal of international medical research · 2023Article
- Somatic Mutation ofArchives of Iranian medicine · 2023Article
- A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.American journal of medical genetics. Part A · 2023Article
- Discovery of new therapeutic targets in ovarian cancer through identifying significantly non-mutated genes.Journal of translational medicine · 2022Article
- Metabolic homeostasis via BDNF and its receptors.Trends in endocrinology and metabolism: TEM · 2021Review
- Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.Molecular genetics and genomics : MGG · 2021Article
- Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.International journal of molecular sciences · 2019Review
- Tyrosine aminotransferase is involved in the oxidative stress response by metabolizingThe Journal of biological chemistry · 2019Article
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- A Rare De NovoBiology · 2018Article
- Review
- Article
- The N-terminal Set-β Protein Isoform Induces Neuronal Death.The Journal of biological chemistry · 2015Article
- Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.The Journal of clinical endocrinology and metabolism · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the molecular properties of these mutated forms and their relationship with the resulting phenotype. We compared the clinical phenotype of SMS patients carrying a mutation in RAI1 coding region either in the N-terminal or the C-terminal half of the protein and no significant differences were found. In order to study the molecular mechanism related to these two groups of RAI1 mutations first we analyzed those mutations that result in the truncated protein corresponding to the N-terminal half of RAI1 finding that they have cytoplasmic localization (in contrast to full length RAI1) and no ability to activate the transcription through an endogenous target: the BDNF enhancer. Similar results were found in lymphoblastoid cells derived from a SMS patient carrying RAI1 c.3103insC, where both mutant and wild type products of RAI1 were detected. The wild type form of RAI1 was found in the chromatin bound and nuclear matrix subcellular fractions while the mutant product was mainly cytoplasmic. In addition, missense mutations at the C-terminal half of RAI1 presented a correct nuclear localization but no activation of the endogenous target. Our results showed for the first time a correlation between RAI1 mutations and abnormal protein function plus they suggest that a reduction of total RAI1 transcription factor activity is at the heart of the SMS clinical presentation.
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