PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer.

ABSTRACT: Centromeric α-satellite repeats represent ~6% of the human genome, but their length and repetitive nature make sequencing and analysis of those regions challenging. However, centromeres are essential for the stable propagation of chromosomes, so tools are urgently needed to monitor centromere copy number and how it influences chromosome transmission and genome stability. We developed and benchmarked droplet digital PCR (ddPCR) assays that measure copy number for five human centromeric arrays. We applied them to characterize natural variation in centromeric array size, analyzing normal tissue from 37 individuals from China and 39 individuals from the US and UK. Each chromosome-specific array varies in size up to 10-fold across individuals and up to 50-fold across chromosomes, indicating a u

SUBMITTER: de Lima LG 

PROVIDER: S-EPMC8730464 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature