Erratum: Micro-exons of the cardiac myosin binding protein C gene: Flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations (European Journal of Human Genetics (2008) 10.1038/ejhg.2008.52);Micro-exons of the cardiac myosin binding protein C gene: Flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

European Journal of Human Genetics

Volumn 16, Issue 9, 2008, Pages 1062-1069

  Frank Hansen, Rune ^a,c   Page, Stephen P ^b   Syrris, Petros ^b   McKenna, William J ^b   Christiansen, Michael ^a   Andersen, Paal Skytt ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIAC MYOSIN; GENOMIC DNA; MESSENGER RNA; MYOSIN BINDING PROTEIN C;

ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; MOLECULAR MECHANICS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 50149111771     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.80     Document Type: Erratum

References (36)

1. Andersen PS, Havndrup O, Bundgaard H et al: Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: Total or partial haploinsufficiency. Eur J Hum Genet 2004; 12: 673-677.
2. Richard P, Charron P, Carrier L et al: Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-2232.
3. Van Driest SL, Vasile VC, Ommen SR et al: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44: 1903-1910.
4. Rottbauer W, Gautel M, Zehelein J et al: Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. J Clin Invest 1997; 100: 475-482.
5. Watkins H, Conner D, Thierfelder L et al: Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 434-437.
6. Bonne G, Carrier L, Bercovici J et al: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 438-440.
7. Erdmann J, Raible J, Maki-Abadi J et al: Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 2001; 38: 322-330.
8. Mount SM: Genomic sequence, splicing, and gene annotation. Am J Hum Genet 2000; 67: 788-792.
9. Sterner DA, Carlo T, Berget SM: Architectural limits on split genes. Proc Natl Acad Sci USA 1996; 93: 15081-15085.
10. Sterner DA, Berget SM: In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit. Mol Cell Biol 1993; 13 2677-2687.
11. Dominski Z, Kole R: Selection of splice sites in pre-mRNAs with short, internal exons. Mol Cell Biol 1991; 11 6075-6083.
12. Volfovsky N, Haas BJ, Salzberg SL: Computational discovery of internal micro-exons. Genome Res 2003; 13: 1216-1221.
13. Carlo T, Sterner DA, Berget SM: An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon. RNA 1996; 2: 342-353.
14. Carlo T, Sierra R, Berget SM: A 5′ splice site-proximal enhancer binds SF1 and activates exon bridging of a microexon. Mol Cell Biol 2000; 20: 3988-3995.
15. Simpson CG, Hedley PE, Watters JA et al: Requirements for mini-exon inclusion in potato invertase mRNAs provides evidence for exon-scanning interactions in plants. RNA 2000; 6: 422-433.
16. Carrier L, Bonne G, Bahrend E et al: Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997; 80: 427-434.
17. De Angelis E, Brummendorf T, Cheng L, Lemmon V, Kenwrick S: Alternative use of a mini exon of the L1 gene affects L1 binding to neural ligands. J BiolChem 2001; 276: 32738-32742.
18. Holter J, Davies J, Leresche N, Crunelli V, Carter DA: Identification of two further splice variants of GABABR1 characterizes the conserved micro-exon 4 as a hot spot for regulated splicing in the rat brain. J Mol Neurosci 2005; 26: 99-108.
19. Niimura H, Bachinski LL, Sangwatanaroj S et al: Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248-1257.
20. Larsen LA, Christiansen M, Vuust J, Andersen PS: High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat 1999; 13: 318-327.
21. Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA: High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: Validation of the method. Hum Mutat 2003; 21: 116-122.
22. Hougs L, Havndrup O, Bundgaard H et al: One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Eur J Hum Genet 2005; 13: 161-165.
23. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987; 15: 7155-7174.
24. Senapathy P, Shapiro MB, Harris NL: Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project. Methods Enzymol 1990; 183: 252-278.
25. Brunak S, Engelbrecht J, Knudsen S: Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991; 220: 49-65.
26. Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S: Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996; 24: 3439-3452.
27. Wang M, Marin A: Characterization and prediction of alternative splice sites. Gene 2006; 366: 219-227.
28. McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M: Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families. Heart 1997; 77: 130-132.
29. Maron BJ, McKenna WJ, Danielson GK et al: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003; 42: 1687-1713.
30. Goldstrohm AC, Greenleaf AL, Garcia-Blanco MA: Co-transcriptional splicing of pre-messenger RNAs: Considerations for the mechanism of alternative splicing. Gene 2001; 277: 31-47.
31. Rosenzweig A, Watkins H, Hwang DS et al: Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 1991; 325: 1753-1760.
32. Sarikas A, Carrier L, Schenke C et al: Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res 2005; 66: 33-44.
33. Nagy E, Maquat LE: A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198-199.
34. Bateman JF, Freddi S, Nattrass G, Savarirayan R: Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet 2003; 12: 217-225.
35. Gruen M, Gautel M: Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. J Mol Biol 1999; 286: 933-949.
36. Moolman JA, Reith S, Uhl K et al: A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 2000; 101: 1396-1402.