Variation in the mutation rate across mammalian genomes

被引:319
作者
Hodgkinson, Alan [1 ]
Eyre-Walker, Adam [1 ]
机构
[1] Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England
关键词
NEUTRAL SUBSTITUTION RATES; SINGLE-NUCLEOTIDE POLYMORPHISMS; MALE-BIASED MUTATION; LOCAL SIMILARITY; EVOLUTIONARY CONSEQUENCES; SEQUENCE EVOLUTION; SOMATIC MUTATIONS; DNA-SEQUENCES; CANCER GENOME; HUMAN GENES;
D O I
10.1038/nrg3098
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
It has been known for many years that the mutation rate varies across the genome. However, only with the advent of large genomic data sets is the full extent of this variation becoming apparent. The mutation rate varies over many different scales, from adjacent sites to whole chromosomes, with the strongest variation seen at the smallest scales. Some of these patterns have clear mechanistic bases, but much of the rate variation remains unexplained, and some of it is deeply perplexing. Variation in the mutation rate has important implications in evolutionary biology and underexplored implications for our understanding of hereditary disease and cancer.
引用
收藏
页码:756 / 766
页数:11
相关论文
共 115 条
[2]   A genome-wide view of mutation rate co-variation using multivariate analyses [J].
Ananda, Guruprasad ;
Chiaromonte, Francesca ;
Makova, Kateryna D. .
GENOME BIOLOGY, 2011, 12 (03)
[3]   Adaptive evolution of non-coding DNA in Drosophila [J].
Andolfatto, P .
NATURE, 2005, 437 (7062) :1149-1152
[4]  
[Anonymous], 2007, The Origins of Genome Architecture
[5]   Widely distributed noncoding purifying selection in the human genome [J].
Asthana, Saurabh ;
Noble, William S. ;
Kryukov, Gregory ;
Grantt, Charles E. ;
Sunyaev, Shamil ;
Stamatoyannopoulos, John A. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (30) :12410-12415
[6]   Evidence for a high frequency of simultaneous double-nucleotide substitutions [J].
Averof, M ;
Rokas, A ;
Wolfe, KH ;
Sharp, PM .
SCIENCE, 2000, 287 (5456) :1283-1286
[7]   Male-biased mutation rate and divergence in autosomal, Z-linked and W-linked introns of chicken and turkey [J].
Axelsson, E ;
Smith, NGC ;
Sundström, H ;
Berlin, S ;
Ellegren, H .
MOLECULAR BIOLOGY AND EVOLUTION, 2004, 21 (08) :1538-1547
[8]   Paleontological evidence to date the tree of life [J].
Benton, Michael J. ;
Donoghue, Philip C. J. .
MOLECULAR BIOLOGY AND EVOLUTION, 2007, 24 (01) :26-53
[10]   Isochores and the evolutionary genomics of vertebrates [J].
Bernardi, G .
GENE, 2000, 241 (01) :3-17