Three Mutation Signatures (IMAGE)

Boston Children's Hospital

Three Mutation Signatures

Caption

This graph of all 161 neurons in the dataset, sampled at different ages, shows the quantity and type of mutations they carry. From left to right, by ascending age in each group, are neurons from normal controls, people with Cockayne syndrome (CS) and people with xeroderma pigmentosum. Color indicates the type of mutation: Signature A (purple), correlates closely with aging; Signature B (orange), is apparent soon after birth; and signature C (blue) is related to oxidative DNA damage. Brain areas are also designated: PFC, prefrontal cortex; DG, dentate gyrus of the hippocampus. The highest numbers of mutations are in neurons from the older controls and the two disease groups.

Credit

Reprinted with permission from MA Lodato et al., <i>Science</i> Dec. 7, 2017, DOI: 10.1101/221960

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