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A genome-wide view of Caenorhabditis elegans base-substitution mutation processes

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A genome-wide view of Caenorhabditis elegans base-substitution mutation processes

dc.contributor.author	Denver, Dee R.
dc.contributor.author	Dolan, Peter C.
dc.contributor.author	Wilhelm, Larry J.
dc.contributor.author	Sung, Way
dc.contributor.author	Lucas Lledó, José Ignacio
dc.contributor.author	Howe, Dana K.
dc.contributor.author	Lewis, Samanta C.
dc.contributor.author	Okamoto, Kazu
dc.contributor.author	Kelly, Thomas W.
dc.contributor.author	Lynch, Michael
dc.contributor.author	Baer, Charles F.
dc.date.accessioned	2015-06-26T09:08:31Z
dc.date.available	2015-06-26T09:08:31Z
dc.date.issued	2009
dc.identifier.citation	Denver, Dee R. Dolan, Peter C. Wilhelm, Larry J. Sung, Way Lucas-Lledó, José Ignacio Howe, Dana K. Lewis, Samanta C. Okamoto, Kazu Kelly, Thomas W. Lynch, Michael Baer, Charles F. 2009 A genome-wide view of Caenorhabditis elegans base-substitution mutation processes Proceedings of the National Academy of Sciences of the United States of America 106 38 16310 16314
dc.identifier.uri	http://hdl.handle.net/10550/44757
dc.description.abstract	Knowledge of mutation processes is central to understanding virtually all evolutionary phenomena and the underlying nature of genetic disorders and cancers. However, the limitations of standard molecular mutation detection methods have historically precluded a genome-wide understanding of mutation rates and spectra in the nuclear genomes of multicellular organisms. We applied two high-throughput DNA sequencing technologies to identify and characterize hundreds of spontaneously arising base-substitution mutations in 10 Caenorhabditis elegans mutation-accumulation (MA)-line nuclear genomes. C. elegans mutation rate estimates were similar to previous calculations based on smaller numbers of mutations. Mutations were distributed uniformly within and among chromosomes and were not associated with recombination rate variation in the MA lines, suggesting that intragenomic variation in genetic hitchhiking and/or background selection are primarily responsible for the chromosomal distribution patterns of polymorphic nucleotides in C. elegans natural populations. A strong mutational bias from G/C to A/T nucleotides was detected in the MA lines, implicating oxidative DNA damage as a major endogenous mutagenic force in C. elegans. The observed mutational bias also suggests that the C. elegans nuclear genome cannot be at equilibrium because of mutation alone. Transversions dominate the spectrum of spontaneous mutations observed here, whereas transitions dominate patterns of allegedly neutral polymorphism in natural populations of C. elegans and many other animal species; this observation challenges the assumption that natural patterns of molecular variation in noncoding regions of the nuclear genome accurately reflect underlying mutation processes.
dc.language.iso	eng
dc.relation.ispartof	Proceedings of the National Academy of Sciences of the United States of America, 2009, vol. 106, num. 38, p. 16310-16314
dc.subject	Genètica molecular
dc.title	A genome-wide view of Caenorhabditis elegans base-substitution mutation processes
dc.type	journal article	es_ES
dc.date.updated	2015-06-26T09:08:31Z
dc.identifier.doi	10.1073/pnas.0904895106
dc.identifier.idgrec	105221
dc.rights.accessRights	open access	es_ES