title: A genome-wide view of the spectrum of spontaneous mutations in yeast.
abstract: 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.
authors.affiliation: Department of Biology, Indiana University, Bloomington, IN 47405, USA. milynch@indiana.edu
authors.forename: Michael
authors.initials: M
authors.lastname: Lynch
authors.forename: Way
authors.initials: W
authors.lastname: Sung
authors.forename: Krystalynne
authors.initials: K
authors.lastname: Morris
authors.forename: Nicole
authors.initials: N
authors.lastname: Coffey
authors.forename: Christian R
authors.initials: CR
authors.lastname: Landry
authors.forename: Erik B
authors.initials: EB
authors.lastname: Dopman
authors.forename: W Joseph
authors.initials: WJ
authors.lastname: Dickinson
authors.forename: Kazufusa
authors.initials: K
authors.lastname: Okamoto
authors.forename: Shilpa
authors.initials: S
authors.lastname: Kulkarni
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Hartl
authors.forename: W Kelley
authors.initials: WK
authors.lastname: Thomas
mesh_terms: D001483:Base Sequence; D002455:Cell Division; D015825:Chromosomes, Fungal / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D016681:Genome, Fungal / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009711:Nucleotides; D011003:Ploidies; D012441:Saccharomyces cerevisiae / Q000166:cytology / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D009711:Nucleotides