An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning [PDF]
eLife, 2019 Male germ cells of all placental mammals express an ancient nuclear RNA binding protein of unknown function called RBMXL2. Here we find that deletion of the retrogene encoding RBMXL2 blocks spermatogenesis.
Ingrid Ehrmann +12 more
doaj +9 more sources
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy.
Thomas A. Cassini +9 more
doaj +2 more sources
Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction [PDF]
, 2022 Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1 is the causative gene in around 60% of cases of DOA.
Harvey, Joshua Paul +2 more
core +5 more sources
Clinical impact of splicing in neurodevelopmental disorders
Genome Medicine, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Stephan J. Sanders +2 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2016 While 9% of human pathogenic variants have an established effect on pre-mRNA splicing, it is suspected that an additional 20% of otherwise classified variants also affect splicing.
Atze J Bergsma +4 more
doaj +1 more source
The Exon Junction Complex and intron removal prevent re-splicing of mRNA.
PLoS Genetics, 2021 Accurate splice site selection is critical for fruitful gene expression. Recently, the mammalian EJC was shown to repress competing, cryptic, splice sites (SS). However, the evolutionary generality of this remains unclear.
Brian Joseph, Eric C Lai
doaj +1 more source
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]
Royal Society Open Science, 2019 The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Jonathan Cook +2 more
doaj +1 more source
Computational analysis of splicing errors and mutations in human transcripts
BMC Genomics, 2008 Background Most retained introns found in human cDNAs generated by high-throughput sequencing projects seem to result from underspliced transcripts, and thus they capture intermediate steps of pre-mRNA splicing.
Gelfand Mikhail S +1 more
doaj +1 more source
Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals. [PDF]
PLoS Genetics, 2006 Splice site selection is a key element of pre-mRNA splicing. Although it is known to involve specific recognition of short consensus sequences by the splicing machinery, the mechanisms by which 5' splice sites are accurately identified remain ...
Keren Borensztajn +5 more
doaj +1 more source
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]
, 2010 Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander +8 more
core +1 more source