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.
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Integrat Biosci Program, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Ananda, Guruprasad
;
Chiaromonte, Francesca
论文数: 0引用数: 0
h-index: 0
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Dept Stat, Wartik Lab 505A, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Chiaromonte, Francesca
;
Makova, Kateryna D.
论文数: 0引用数: 0
h-index: 0
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Dept Biol, Wartik Lab 305, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
机构:
Univ Calif San Diego, Div Biol Sci, Sect Ecol Behav & Evolut, La Jolla, CA 92093 USAUniv Calif San Diego, Div Biol Sci, Sect Ecol Behav & Evolut, La Jolla, CA 92093 USA
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Integrat Biosci Program, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Ananda, Guruprasad
;
Chiaromonte, Francesca
论文数: 0引用数: 0
h-index: 0
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Dept Stat, Wartik Lab 505A, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Chiaromonte, Francesca
;
Makova, Kateryna D.
论文数: 0引用数: 0
h-index: 0
机构:
Penn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
Penn State Univ, Dept Biol, Wartik Lab 305, University Pk, PA 16802 USAPenn State Univ, Ctr Med Genom, University Pk, PA 16802 USA
机构:
Univ Calif San Diego, Div Biol Sci, Sect Ecol Behav & Evolut, La Jolla, CA 92093 USAUniv Calif San Diego, Div Biol Sci, Sect Ecol Behav & Evolut, La Jolla, CA 92093 USA