"In a technological tour-de-force, researchers have sequenced the whole genomes of more than 100 individual cells from one 74-year-old man. The results exposed chaos within: an extra chromosome arm here, a missing chunk of chromosome there, and smaller snippets of DNA altered, deleted or duplicated. In several of the cells, the Y chromosome had been lost entirely. "There were some cells in there that were very messed up," says Joe Luquette, who studies bioinformatics at Harvard Medical School in Boston, Massachusetts,"
"The resulting catalogue will provide a valuable tool for researchers studying the influence of genetic variation between the cells of a single individual - a phenomenon known as mosaicism - on health and on diseases such as cancer, says Soichi Sano, who studies mosaicism in the cardiovascular system at Japan's National Cerebral and Cardiovascular Center in Suita. "I'm sure that this field will be accelerated very rapidly," he says."
Whole-genome sequencing of more than 100 individual cells from a 74-year-old man revealed extensive somatic variation, including extra or missing chromosome arms, smaller altered, deleted or duplicated DNA segments, and complete loss of the Y chromosome in several cells. A US$140-million consortium plans a pilot project to catalogue mutations from 19 body sites using cells from 150 donors to map intra-individual mosaicism. Mosaicism arises from replication or repair errors and environmental DNA damage over a lifetime. Improved sequencing shows mosaicism is common and can influence health, including cancer risk and links between Y loss and cardiovascular disease.
Read at Nature
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