Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.

ABSTRACT: Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell. Here we address the process by which CNVs become depleted of UCEs. We begin by showing that depletion for UCEs characterizes the most recent large-scale human CNV datasets and then find that even newly formed de novo CNVs, which have passed through meiosis at most once, are significantly depleted for UCEs. In striking contrast, CNVs arising specifically in cancer cells are, as a rule, not depleted for UCEs and can even become significantly enriched. This observation raises the possibility that CNVs that arise somatically and are relatively newly formed are less likel

SUBMITTER: McCole RB 

PROVIDER: S-EPMC4207606 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature