ArticleCurrent genomics2010
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.
Article in Current genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- 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
- Circadian Regulation in Diurnal Mammals: Neural Mechanisms and Implications in Translational Research.Biology · 2024Review
- A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.European journal of human genetics : EJHG · 2022Article
- 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.European journal of human genetics : EJHG · 2022Article
- Article
- Review
- An approach to gene-based testing accounting for dependence of tests among nearby genes.Briefings in bioinformatics · 2021Article
- A weekly vitamin A supplementary program alleviates social impairment in Chinese children with autism spectrum disorders and vitamin A deficiency.European journal of clinical nutrition · 2021Article
- Antiepileptogenic Effect of Retinoic Acid.Current neuropharmacology · 2021Article
- The Genetic Control of Stoichiometry Underlying Autism.Annual review of neuroscience · 2020Article
- 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
- Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.Genome research · 2018Article
- The interrelationship of metabolic syndrome and neurodegenerative diseases with focus on brain-derived neurotrophic factor (BDNF): Kill two birds with one stone.Metabolic brain disease · 2017Review
- Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns.Stem cells (Dayton, Ohio) · 2017Article
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2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Genomic structural changes, such as gene Copy Number Variations (CNVs) are extremely abundant in the human genome. An enormous effort is currently ongoing to recognize and catalogue human CNVs and their associations with abnormal phenotypic outcomes. Recently, several reports related neuropsychiatric diseases (i.e. autism spectrum disorders, schizophrenia, mental retardation, behavioral problems, epilepsy) with specific CNV. Moreover, for some conditions, both the deletion and duplication of the same genomic segment are related to the phenotype. Syndromes associated with CNVs (microdeletion and microduplication) have long been known to display specific neurobehavioral traits. It is important to note that not every gene is susceptible to gene dosage changes and there are only a few dosage sensitive genes. Smith-Magenis (SMS) and Potocki-Lupski (PTLS) syndromes are associated with a reciprocal microdeletion and microduplication within chromosome 17p11.2. in humans. The dosage sensitive gene responsible for most phenotypes in SMS has been identified: the Retinoic Acid Induced 1 (RAI1). Studies on mouse models and humans suggest that RAI1 is likely the dosage sensitive gene responsible for clinical features in PTLS. In addition, the human RAI1 gene has been implicated in several neurobehavioral traits as spinocerebellar ataxia (SCA2), schizophrenia and non syndromic autism. In this review we discuss the evidence of RAI1 as a dosage sensitive gene, its relationship with different neurobehavioral traits, gene structure and mutations, and what is known about its molecular and cellular function, as a first step in the elucidation of the mechanisms that relate dosage sensitive genes with abnormal neurobehavioral outcomes.
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