Use of mutation spectra analysis software
- 1 February 2001
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 17 (2) , 83-102
- https://doi.org/10.1002/1098-1004(200102)17:2<83::aid-humu1>3.0.co;2-e
Abstract
The study and comparison of mutation(al) spectra is an important problem in molecular biology, because these spectra often reflect on important features of mutations and their fixation. Such features include the interaction of DNA with various mutagens, the function of repair/replication enzymes, and properties of target proteins. It is known that mutability varies significantly along nucleotide sequences, such that mutations often concentrate at certain positions, called “hotspots,” in a sequence. In this paper, we discuss in detail two approaches for mutation spectra analysis: the comparison of mutation spectra with a HG‐PUBL program, (FTP: sunsite.unc.edu/pub/academic/biology/dna‐mutations/hyperg) and hotspot prediction with the CLUSTERM program (www.itba.mi.cnr.it/webmutation; ftp.bionet.nsc.ru/pub/biology/dbms/clusterm.zip). Several other approaches for mutational spectra analysis, such as the analysis of a target protein structure, hotspot context revealing, multiple spectra comparisons, as well as a number of mutation databases are briefly described. Mutation spectra in the lacI gene of E. coli and the human p53 gene are used for illustration of various difficulties of such analysis. Hum Mutat 17:83–102, 2001.Keywords
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