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- Title
Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication.
- Authors
Liang Shen; Hong-Fang Ji
- Abstract
One of the most conspicuous features of neurodegenerative diseases (NDs) is the occurrence of dramatic conformation change of individual proteins. We performed a mutational spectrum analysis of disease-causing missense mutations in seven types of NDs at nucleotide and amino acid levels, and compared the results with those of non-NDs. The main findings included: (i) The higher mutation ratio of G:C→T:A transversion to G:C→A:T transition was observed in NDs than in non-NDs, interpreting the excessive guanine-specific oxidative DNA damage in NDs; (ii) glycine and proline had highest mutability in NDs than in non-NDs, which favor the protein conformation change in NDs; (iii) surprisingly low mutation frequency of arginine was observed in NDs. These findings help to understand how mutations may cause NDs.
- Subjects
MISSENSE mutation; NEURODEGENERATION; PROTEIN analysis; NUCLEOTIDE analysis; AMINO acids
- Publication
International Journal of Molecular Sciences, 2015, Vol 16, Issue 10, p24295
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms161024295