Icelanders’ Genomes Hint at Origins of Genetic Diversity

An analysis of 14,000 genomes reveals regions where new mutations are more likely to develop.

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ISTOCK, BET_NOIREDads pass on many more new genetic mutations to their children than moms. But maternal mutations are surprisingly common in specific regions of the genome, a new study suggests. The results give clues to how age and sex contribute to the development of new mutations in the human genome, and the influence of these factors on genetic diversity and evolution.

In the study, researchers analyzed whole-genome data from more than 14,000 Icelanders, including 1,500 sets of parents and children. The team identified 108,778 de novo mutations, which comprise the most complete catalog of new human mutations to date. The results appear today (September 20) in Nature.

Study coauthor Kári Stefánsson and CEO of deCODE, a genetic analysis company, explains that de novo mutations spur evolution by continually generating new versions of the human genome. It’s not yet clear how these mutations develop in the genome. But by cataloguing the changes in thousands of people, the new results offer insight into the role age and sex play and provide clues to potential mechanisms underlying the mutations. The researchers say that a comprehensive catalog could also help ...

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Meet the Author

  • Ashley Yeager

    Ashley started at The Scientist in 2018. Before joining the staff, she worked as a freelance editor and writer, a writer at the Simons Foundation, and a web producer at Science News, among other positions. She holds a bachelor’s degree in journalism from the University of Tennessee, Knoxville, and a master’s degree in science writing from MIT. Ashley edits the Scientist to Watch and Profile sections of the magazine and writes news, features, and other stories for both online and print.

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