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Are CpG sites mutation hot spots in the dystrophin gene?

Human molecular genetics - 1 Aug 1994

Akalin N, Zietkiewicz E, Makałowski W, Labuda D

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 7987328
DOI: 10.1093/hmg/3.8.1425

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Are CpG sites mutation hot spots in the dystrophin gene?PMID 7987328Read ↗

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

DNA mutation motifs in the genes associated with inherited diseases.Semantic proximity Read ↗

Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutationsSemantic proximity Read ↗

Sequence specificity in CpG mutation hotspots.Semantic proximity Read ↗

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.Semantic proximity Read ↗

Potential CpG-rich islands clustering around single-minded gene in Down syndrome chromosomal region.Semantic proximity Read ↗

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 ExpansionSemantic proximity Read ↗

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.Semantic proximity Read ↗

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.Semantic proximity Read ↗

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.Semantic proximity Read ↗

Structural deviations at CpG provide a plausible explanation for the high frequency of mutation at this site. Phosphorus nuclear magnetic resonance and circular dichroism studies.Semantic proximity Read ↗

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