Germline de novo mutation rates on exons versus introns in humans

Miguel Rodriguez-Galindo, Sònia Casillas, Donate Weghorn () and Antonio Barbadilla ()
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Miguel Rodriguez-Galindo: The Barcelona Institute of Science and Technology
Sònia Casillas: Universitat Autònoma de Barcelona
Donate Weghorn: The Barcelona Institute of Science and Technology
Antonio Barbadilla: Universitat Autònoma de Barcelona

Nature Communications, 2020, vol. 11, issue 1, 1-9

Abstract: Abstract A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared to introns in somatic cells, ascribed to an enhanced exonic mismatch repair system activity. If this reduction happens also in the germline, it can compromise studies of population genomics, including the detection of selection when using introns as proxies for neutrality. Here we compile and analyze published germline de novo mutation data to test if the exonic mutation rate is also reduced in germ cells. After controlling for sampling bias in datasets with diseased probands and extended nucleotide context dependency, we find no reduction in the mutation rate in exons compared to introns in the germline. Therefore, there is no evidence that enhanced exonic mismatch repair activity determines the mutation rate in germline cells.

Date: 2020
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DOI: 10.1038/s41467-020-17162-z

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