Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
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Summary
A meta‐analysis of 478 disease‐associated splicing mutations, in 38 different genes, reveals that exon skipping was the preferred phenotype when the immediate vicinity of the affected exon–intron junctions was devoid of alternative splice‐sites, and estimates that some 1.6% of disease‐causing missense substitutions in human genes are likely to affect the mRNA splicing phenotype.
- Type
- article
- Published
- 2007-02-01
- Cited by
- 380
- References
- 36
- Access
- Open access
- OpenAlex
- https://openalex.org/W17001642
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:21917664
Keywords
STELLA (programming language), Poetry, Irony, Sonnet, Poetics
References
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- A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair gene results in reduced translation efficiency of its transcripts
- Influence of RNA Secondary Structure on the Pre-mRNA Splicing Process
- The splicing machinery is a genetic modifier of disease severity.
- OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes.
Cited by
- A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister.
- Systematic evaluation of the effect of common SNPs on pre‐mRNA splicing
- Identification of small molecule inhibitors of pre-mRNA splicing.
- IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
- Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
- Ranking noncanonical 5′ splice site usage by genome-wide RNA-seq analysis and splicing reporter assays
- Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
- Bioinformatics and mutations leading to exon skipping.
- Análisis genético y molecular del síndrome de Maroteaux-Lamy
- Molecular genetic analysis of preterm labour
- Syndrome de Kallmann (KS) : étude de corrélation phénotype/génotype et des modes de transmission de mutations PROK2 et PROKR2 : caractérisation d’un nouveau gène responsable de KS, l’alpha dystrobrévine
- Étude protéomique de la microhétérogénéité des caséines [alpha]s1 et [bêta] équines : identification des variants transcriptionnels et de phosphorylation ; identification des sites phosphorylés de la caséine [bêta]
- Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse
- Mechanism of action of GGA, a targeted oligonucleotide enhancer of splicing developed for the treatment of spinal muscular atrophy
- Genome-wide DNA polymorphisms in low Phosphate tolerant and sensitive rice genotypes
- RNA‐based therapeutic approaches for coagulation factor deficiencies
- Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1)
- Exon skipping mutations in neurofibromatosis.
- Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
- Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas
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