ArticleMolecular vision2010
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- NovelInternational journal of ophthalmology · 2024Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.Journal of human genetics · 2018Article
- Aquaporins in the eye: expression, function, and roles in ocular disease.Biochimica et biophysica acta · 2014Review
- A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.Molecular vision · 2013Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the consequence of a major intrinsic protein MIP splice-site mutation (c.607-1G>A) in a four-generation Chinese pedigree afflicted with autosomal dominant congenital cataracts (ADCC).
methodsBoth a mutated minigene with c.607-1G>A, and a wild-type minigene were constructed using the pTARGET mammalian expression vector. They were transiently transfected into HeLa cells and human lens epithelial cells, respectively. After 48 h incubation, RNA extraction and RT-PCR analysis were performed and PCR products were separated and confirmed by sequencing. Structural models of the wild-type and the mutant aquaporin 0 (AQP0) were generated and analyzed using SWISS-MODEL.
resultsThe G>A transition activated a cryptic acceptor splice site (c.965-966) in the 3' untranslated region (3' UTR), resulting in the absence of the coding region and most of the 3'UTR in exon 4 of the mature mRNA. Moreover, homology modeling of the mutant protein suggested that the sixth transmembrane helix and carboxyl terminus were replaced with the Leu-His-Ser tripeptide (AQP0-LHS).
conclusionsThe MIP splice-site mutation (c.607-1G>A) activates a cryptic acceptor splice site in the 3' UTR, which may result in substitution of the sixth transmembrane helix and carboxyl terminus for AQP0-LHS. To our knowledge, this is the first report of activation of a cryptic splice site in the 3' UTR in a human disease gene.
Indexed as
Identifiers
21139677PMC2994330W1729505745What OpenQuestion holds
Registered trials
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