The spectra of point mutations in vertebrate genomes

被引:8
作者
Albrecht-Buehlel, Guenter [1 ]
机构
[1] Northwestern Univ, Feinberg Sch Med, Dept Cell & Mol Biol, Chicago, IL 60611 USA
关键词
auto-mutagenesis; evolution; point mutation; repetitive DNA; MICROSATELLITE SEQUENCES; CAENORHABDITIS-ELEGANS; PARITY RULES; GENE; DNA; INSTABILITY; PATIENT;
D O I
10.1002/bies.080081
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
In spite of the importance of point mutations for evolution and human diseases, their natural spectrum of incidence in different species is not known. Here I propose to determine these spectra by comparing consecutive sequence periods in stretches of repetitive DNA. The article presents the analysis of more than 51,000 such point mutations identified by this approach in the genomes of human, chimpanzee, rat, mouse, pufferfish, zebrafish, and sea squirt. I propose to explain the observed spectra by auto-mutagenic mechanisms of genome variation involving the inter-conversions of nucleotides, single base-pair inversions and their combinations.
引用
收藏
页码:98 / 106
页数:9
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