Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

Human Mutation

Volumn 9, Issue 6, 1997, Pages 537-547

  Todorova, Albena ^a   Danieli, Gian Antonio ^b  

^a University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Becker muscular dystrophy (BMD); CpG hypermutability; Direct repeats; Duchenne muscular dystrophy (DMD); Mutagenesis; Palindromes; Point mutations; Symmetric elements

Indexed keywords

DYSTROPHIN;

ARTICLE; BASE MISPAIRING; BECKER MUSCULAR DYSTROPHY; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CPG ISLANDS; DNA; DNA POLYMERASE II; DYSTROPHIN; HUMANS; MODELS, GENETIC; MUSCULAR DYSTROPHIES; MUTAGENESIS; MUTATION; POINT MUTATION; SEQUENCE DELETION;

EID: 0030991489     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<537::AID-HUMU7>3.0.CO;2-Z     Document Type: Article

References (8)

1. Adams RLP, Eason R (1984) Increased CpF content of DNA stabilizes CpG dinucleotides. Nucleic Acids Res 12:5867-5877.
2. Akalin N, Zietkiewicz E, Makalowski W, Labuda D (1994) Are CpG sites mutation hot spots in the dystrophin gene? Hum Mol Genet 3:1425-1426.
3. Bains W, Bains J (1987) Rate of base substitution in mammalian nuclear DNA is dependent on local sequence context. Mutat Res 179:65-74.
4. Bulman DE, Gangopadhyay SB, Bebchuck KG, Worton RG, Ray PN (1991) Point mutation in the human dystrophin gene: Identification through western blot analysis. Genomics 10:475-460.
5. Clemens PR, Ward PA, Caskey CT, Bulman DE, Fenwick RG (1992) Premature termination mutation causing Duchenne muscular dystrophy. Neurology 42:1775-1782.
6. Kunkel TA, Alexander PS (1986) The base substitution fidelity of eukaryotic DNA polymerases. J Biol Chem 261:160-166.
7. Kunkel TA, Soni A (1988) Mutagenesis by transient misalignment. J Biol Chem 263:14784-14789.
8. Lenk U, Hanke R, Kraft U, Grade K, Grunewald I, Speer A (1993a) Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. J Med Genet 30:951-954.