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Evidence for turnover of functional noncoding DNA in mammalian genome evolution
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Evolution, Genomics and Systematics, Evolutionary Biology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Evolution, Genomics and Systematics, Evolutionary Biology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Evolution, Genomics and Systematics, Evolutionary Biology.
2004 (English)In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 84, no 5, 806-813 p.Article in journal (Refereed) Published
Abstract [en]

The vast majority of the mammalian genome does not code for proteins, and a fundamental question in genomics is: What proportion of the noncoding mammalian genome is functional? Most attempts to address this issue use sequence comparisons between highly diverged mammals such as human and mouse to identify conservation due to negative selection. But such comparisons will underestimate the true proportion of functional noncoding DNA if there is turnover, if patterns of negative selection change over time. Here we test whether the inferred level of negative selection differs between different pairwise species comparisons. Using a multiple alignment of more than a megabase of contiguous sequence from eight mammalian species, we find a strong negative relationship between inferred levels of negative selection and pairwise divergence using 21 pairwise comparisons. This result suggests that there is a high rate of turnover of functional noncoding elements in the mammalian genome, so measures of functional constraint based on human–mouse comparisons may seriously underestimate the true value.

Place, publisher, year, edition, pages
2004. Vol. 84, no 5, 806-813 p.
Keyword [en]
Mutation-rate variation, Noncoding conserved blocks, Negative selection, Functional ncDNA
National Category
Developmental Biology
Research subject
Animal Development
Identifiers
URN: urn:nbn:se:uu:diva-89096DOI: 10.1016/j.ygeno.2004.07.012OAI: oai:DiVA.org:uu-89096DiVA: diva2:159402
Available from: 2009-02-09 Created: 2004-01-01 Last updated: 2017-12-14Bibliographically approved

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Ellegren, Hans

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