The human mutation rate is lower than previously thought, according to researchers who sequenced the entire genomes of four family members — two siblings with rare genetic disorders, and their parents.
David Galas and Leroy Hood at the Institute for Systems Biology in Seattle, Washington, and their colleagues estimate that roughly 70 new mutations arise per genome between generations. This is lower than earlier estimates based on genomic comparisons between humans and their closest living relatives, chimpanzees.
The team also pinpointed four genes likely to underlie the siblings' two disorders — Miller syndrome and primary ciliary dyskinesia. The four genes are a subset of those reported in previous studies.
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Genomics: We are family. Nature 464, 329 (2010). https://doi.org/10.1038/464329d
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DOI: https://doi.org/10.1038/464329d
