ArticleJournal of human genetics2005
The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.
Article in Journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Inverted Alu repeats in loop-out exon skipping across hominoid evolution.Nucleic acids research · 2026Article
- Role of Transposable Elements in Genome Stability: Implications for Health and Disease.International journal of molecular sciences · 2022Review
- Transposable elements that have recently been mobile in the human genome.BMC genomics · 2021Article
- Transposable elements in human genetic disease.Nature reviews. Genetics · 2019Review
- Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.RNA biology · 2015Article
- LRIG2 mutations cause urofacial syndrome.American journal of human genetics · 2013Article
- Function of alternative splicing.Gene · 2013Review
- APOBEC3G oligomerization is associated with the inhibition of both Alu and LINE-1 retrotransposition.PloS one · 2013Article
- Novel Alu retrotransposon insertion leading to Alström syndrome.Human genetics · 2012Article
- Alu mobile elements: from junk DNA to genomic gems.Scientifica · 2012Review
- Retroelements versus APOBEC3 family members: No great escape from the magnificent seven.Frontiers in microbiology · 2012Article
- Expressing genes do not forget their LINEs: transposable elements and gene expression.Frontiers in bioscience (Landmark edition) · 2012Review
- Dent's disease: clinical features and molecular basis.Pediatric nephrology (Berlin, Germany) · 2011Article
- The transcript repeat element: the human Alu sequence as a component of gene networks influencing cancer.Functional & integrative genomics · 2010Review
- Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene.Molecular genetics and genomics : MGG · 2007Article
- A role for SC35 and hnRNPA1 in the determination of amyloid precursor protein isoforms.Molecular psychiatry · 2007Article
- HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.Immunogenetics · 2007Article
- A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.Journal of human genetics · 2007Article
- LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.Journal of biomedicine & biotechnology · 2006Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alu sequences are short, interspersed elements that have generated more than one million copies in the human genome. They propagate by transcription followed by reverse transcription and integration, causing mutations, recombination, and changes in pre-mRNA splicing. We have recently identified a 345-bp long Alu Ya5 element inserted in codon 650 within exon 11 of the chloride channel ClC-5 gene (CLCN5) of a patient with Dent's disease. A microsatellite pedigree analysis indicated that the insertion occurred in the germline of the maternal grandfather. Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. Here, we found, by RT-PCR amplification of RNA extracted from the patient's blood and subsequent DNA sequencing, that the Alu insertion led to an aberrant splicing of the CLCN5 pre-mRNA that skipped exon 11. Using the ESE finder and RESCUE-ESE Web interfaces, we identified two high-score exonic splicing enhancer (ESE) sequences in the site of insertion. The functional significance of these ESE motifs is suggested by our observation that these sequences are highly conserved among mammal CLCN5 genes. Therefore, we suggest that the Alu insertion causes exon skipping by interfering with splicing regulatory elements. The altered splicing would predict a truncated ClC-5 protein that lacks critical domains for sorting and chloride channel function.
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