Large chromosome deletions, duplications, and gene conversion events accumulate with age in normal human colon crypts.

ABSTRACT: Little is known about the types and numbers of mutations that may accumulate in normal human cells with age. Such information would require obtaining enough DNA from a single cell to accurately carry out reliable analysis despite extensive amplification; and complete genomic coverage under these circumstances is difficult. We have compared colon crypts, which are putatively clonal and contain ~2000 cells each, to determine how much somatic genetic variation occurs in vivo (without ex vivo cell culturing). Using high-density SNP microarrays, we find that chromosome deletions, duplications, and gene conversions were significantly more frequent in colons from the older individuals. These changes affected lengths ranging from 73 kb to 46 Mb. Although detection requires progeny of a single muta

SUBMITTER: Hsieh JC 

PROVIDER: S-EPMC5706647 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature