Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3′ untranslated region

Molecular Vision

Volumn 16, Issue , 2010, Pages 2253-2258

  Jin, Chongfei ^a   Jiang, Jin ^b   Wang, Wei ^a   Yao, Ke ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; GENOMIC DNA; LEUCYLHISTIDYLSERINE; MAJOR INTRINSIC PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; MUTANT PROTEIN; PLASMID DNA; TRIPEPTIDE; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; AGAR GEL ELECTROPHORESIS; ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CONGENITAL CATARACT; CONTROLLED STUDY; DNA FLANKING REGION; EPITHELIUM CELL; EXON; EXPRESSION VECTOR; GENE MUTATION; HELA CELL; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; MUTANT; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; SEQUENCE HOMOLOGY; TRANSIENT TRANSFECTION; WILD TYPE;

3' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; AQUAPORINS; BASE SEQUENCE; EXONS; EYE PROTEINS; HELA CELLS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PRECURSORS; RNA SPLICE SITES; STRUCTURAL HOMOLOGY, PROTEIN;

EID: 78149490844     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D. The morphology and natural history of childhood cataracts. Surv Ophthalmol 2003; 48:125-44.
2. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-15.
3. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49.
4. Graw J. Genetics of crystallins: cataract and beyond. Exp Eye Res 2009; 88:173-89.
5. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet 2000; 25:15-7.
6. Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X. A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis 2007; 13:1651-6.
7. Lin H, Hejtmancik JF, Qi Y. A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. Mol Vis 2007; 13:1822-7.
8. Wang W, Jiang J, Zhu Y, Li J, Jin C, Shentu X, Yao K. A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. Mol Vis 2010; 16:534-9.
9. Geyer DD, Spence MA, Johannes M, Flodman P, Clancy KP, Berry R, Sparkes RS, Jonsen MD, Isenberg SJ, Bateman JB. Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. Am J Ophthalmol 2006; 141:761-3.
10. Jiang J, Jin C, Wang W, Tang X, Shentu X, Wu R, Wang Y, Xia K, Yao K. Identification of a novel splice site mutation in MIP in a Chinese congenital cataract family. Mol Vis 2009; 15:38-44.
11. Lareau LF, Green RE, Bhatnagar RS, Brenner SE. The evolving roles of alternative splicing. Curr Opin Struct Biol 2004; 14:273-82.
12. Královicová J, Christensen MB, Vorechovsky I. Biased exon/ intron distribution of cryptic and de novo 3' splice sites. Nucleic Acids Res 2005; 33:4882-98.
13. Guex N, Peitsch MC. SWISS-MODEL and the Swiss- PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18:2714-23.
14. Schwede T, Kopp J, Guex N, Peitsch MC. SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 2003; 31:3381-5.
15. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006; 22:195-201.
16. Vorechovský I. Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 2006; 34:4630-41.
17. Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T. A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin- sensitive region, and impaired secretion and cofactor activity of mutant protein S. Thromb Res 2010; 125:e246-50.
18. Cooper TA. Use of minigene systems to dissect alternative splicing elements. Methods 2005; 37:331-40.
19. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37:e67.
20. Rose KM, Wang Z, Magrath GN, Hazard ES, Hildebrandt JD, Schey KL. Aquaporin 0-calmodulin interaction and the effect of aquaporin 0 phosphorylation. Biochemistry 2008; 47:339-47.
21. Lindsey Rose KM, Gourdie RG, Prescott AR, Quinlan RA, Crouch RK, Schey KL. The C-terminus of lens aquaporin 0 interacts with the cytoskeletal proteins filensin and CP49. Invest Ophthalmol Vis Sci 2006; 47:1562-70.
22. Yu XS, Yin X, Lafer EM, Jiang JX. Developmental regulation of the direct interaction between the intracellular loop of connexin 45.6 and the C-terminus of major intrinsic protein (aquaporin-0). J Biol Chem 2005; 280:22081-90.
23. Ball LE, Little M, Nowak MW, Garland DL, Crouch RK, Schey KL. Water permeability of C-terminally truncated aquaporin 0 (AQP0 1-243) observed in the aging human lens. Invest Ophthalmol Vis Sci 2003; 44:4820-8.
24. Gonen T, Sliz P, Kistler J, Cheng Y, Walz T. Aquaporin-0 membrane junctions reveal the structure of a closed water pore. Nature 2004; 429:193-7.