Alternative splicing in the α-galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 994-1002

  Ishii, Satoshi ^a,b   Nakao, Shoichiro ^c   Minamikawa Tachino, Reiko ^d   Desnick, Robert J ^a   Fan, Jian Qiang ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Usuki Bio Research Center   (Japan)

^c Kagoshima Pref Kanoya Hospital   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; COMPLEMENTARY DNA; GLYCOSPHINGOLIPID;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; EXPRESSION VECTOR; FABRY DISEASE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; INBORN ERROR OF METABOLISM; INTRON; LYMPHOBLAST; LYSOSOME; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TISSUE DISTRIBUTION;

ANIMALIA; INSERTION SEQUENCES; VECTORS;

EID: 0036201584     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339431     Document Type: Article

References (39)

1. Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA
2. Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY)
3. Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
4. Fabry disease: α-galactosidase A deficiency
5. Selection of splice sites in pre-mRNAs with short internal exons
6. The SRm160/300 splicing coactivator is required for exon-enhancer function
7. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: Report on a case simulating hypertrophic non-obstructive cardiomyopathy
8. Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes
9. Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease
10. Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
11. Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease
12. Fabry disease: Identification of novel α-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches
13. Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6
14. Characterization of a mutant α-galactosidase gene product for the late-onset cardiac form of Fabry disease
15. Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
16. A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser
17. Nucleotide sequence of the human α-galactosidase A gene
18. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
19. Synergistic interactions between two distinct elements of a regulated splicing enhancer
20. Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease: Mutation in brief no. 146
21. Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis system
22. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: A role for Alu elements in human mutation
23. An atypical variant of Fabry's disease in men with left ventricular hypertrophy
24. Efficient selection for high-expression transfectants with a novel eukaryotic vector
25. Restricted accumulation of globotriaocylceramide in the hearts of atypical cases of Fabry's disease
26. Two novel mutations in the α-galactosidase gene in Japanese classical hemizygotes with Fabry disease
27. Splicing of messenger RNA precursors
28. Regulation of doublesex pre-mRNA processing occurs by 3′-splice site activation
29. Invariant exon skipping in the human α-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5′-splice site causing Fabry disease
30. Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
31. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
32. The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4
33. Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
34. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
35. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
36. Two different sequence elements within exon 4 are necessary for calcitonin-specific splicing of the human calcitonin/calcitonin gene-related peptide I pre-mRNA
37. An atypical variant of Fabry's disease with manifestations confined to the myocardium
38. Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity
39. A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase A gene in a patient with Fabry disease