ArticleAmerican journal of human genetics1998
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 77 citations in OpenAlex.
- MASQ: A multiplex qPCR platform for quantitative alternative splicing analysis in clinical specimens.Molecular therapy. Nucleic acids · 2026Article
- Article
- ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.Investigative ophthalmology & visual science · 2022Article
- Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) PathogenicGenes · 2019Article
- Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.Connective tissue research · 2016Article
- RNA-Binding Proteins: Splicing Factors and Disease.Biomolecules · 2015Review
- The missing puzzle piece: splicing mutations.International journal of clinical and experimental pathology · 2013Review
- Using transmission electron microscopy and 3View to determine collagen fibril size and three-dimensional organization.Nature protocols · 2013Article
- The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.Genes and immunity · 2012Article
- Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk.PloS one · 2012Article
- An SF1 affinity model to identify branch point sequences in human introns.Nucleic acids research · 2011Article
- Generalized connective tissue disease in Crtap-/- mouse.PloS one · 2010Article
- Human genetic variation recognizes functional elements in noncoding sequence.Genome research · 2010Article
- Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).Human mutation · 2009Article
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Nucleic acids research · 2009Article
- New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals.Current opinion in allergy and clinical immunology · 2008Review
- Human branch point consensus sequence is yUnAy.Nucleic acids research · 2008Article
- Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.Journal of dermatological science · 2005Review
- Splicing in action: assessing disease causing sequence changes.Journal of medical genetics · 2005Review
- Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a heterotrimer, [alpha1(V)]2alpha2(V), and it both coassembles with and regulates type I collagen-fibril diameter. Using an intragenic COL5A1 polymorphism, we have demonstrated linkage, at zero recombination, to the same allele in two large British EDS type II families (LOD scores 4.1 and 4.3). Affected members from each family were heterozygous for a point mutation in intron 32 (IVS32:T-25G), causing the 45-bp exon 33 to be lost from the mRNA in approximately 60% of transcripts from the mutant gene. This mutation lies only 2 bp upstream of a highly conserved adenosine in the consensus branch-site sequence, which is required for lariat formation. Although both families shared the same marker allele, we have been unable to identify a common genealogy. This is the first description of a mutation at the lariat branch site, which plays a pivotal role in the splicing mechanism, in a collagen gene. Very probably, the resulting in-frame exon skip has a dominant-negative effect due to incorporation of the mutant proalpha chain into the triple-helical molecule. These findings further confirm the importance of type V collagen in the causation of EDS type II, and the novel collagen mutation indicates the importance of the lariat branch site in splicing.
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Registered trials
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