TY - JOUR
T1 - A genome-wide view of the spectrum of spontaneous mutations in yeast
AU - Lynch, Michael
AU - Sung, Way
AU - Morris, Krystalynne
AU - Coffey, Nicole
AU - Landry, Christian R.
AU - Dopman, Erik B.
AU - Dickinson, W. Joseph
AU - Okamoto, Kazufusa
AU - Kulkarni, Shilpa
AU - Hartl, Daniel L.
AU - Thomas, W. Kelley
PY - 2008/7/8
Y1 - 2008/7/8
N2 - The mutation process ultimately defines the genetic features of all populations and, hence, has a bearing on a wide range of issues involving evolutionary genetics, inheritance, and genetic disorders, including the predisposition to cancer. Nevertheless, formidable technical barriers have constrained our understanding of the rate at which mutations arise and the molecular spectrum of their effects. Here, we report on the use of complete-genome sequencing in the characterization of spontaneously arising mutations in the yeast Saccharomyces cerevisiae. Our results confirm some findings previously obtained by indirect methods but also yield numerous unexpected findings, in particular a very high rate of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very high rate of segmental duplication and deletion in the nuclear genome, and substantial deviations in the mutational profile among various model organisms.
AB - The mutation process ultimately defines the genetic features of all populations and, hence, has a bearing on a wide range of issues involving evolutionary genetics, inheritance, and genetic disorders, including the predisposition to cancer. Nevertheless, formidable technical barriers have constrained our understanding of the rate at which mutations arise and the molecular spectrum of their effects. Here, we report on the use of complete-genome sequencing in the characterization of spontaneously arising mutations in the yeast Saccharomyces cerevisiae. Our results confirm some findings previously obtained by indirect methods but also yield numerous unexpected findings, in particular a very high rate of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very high rate of segmental duplication and deletion in the nuclear genome, and substantial deviations in the mutational profile among various model organisms.
KW - Chromosomal instability
KW - Mitochondrion
KW - Mutation rate
KW - Mutational spectrum
KW - Saccharomyces cerevisiae
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U2 - 10.1073/pnas.0803466105
DO - 10.1073/pnas.0803466105
M3 - Article
C2 - 18583475
AN - SCOPUS:48249133274
SN - 0027-8424
VL - 105
SP - 9272
EP - 9277
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 27
ER -