Variation and Evolution of Human Centromeres: A Field Guide and Perspective.

ABSTRACT: We are entering a new era in genomics where entire centromeric regions are accurately represented in human reference assemblies. Access to these high-resolution maps will enable new surveys of sequence and epigenetic variation in the population and offer new insight into satellite array genomics and centromere function. Here, we focus on the sequence organization and evolution of alpha satellites, which are credited as the genetic and genomic definition of human centromeres due to their interaction with inner kinetochore proteins and their importance in the development of human artificial chromosome assays. We provide an overview of alpha satellite repeat structure and array organization in the context of these high-quality reference data sets; discuss the emergence of variation-based surv

SUBMITTER: Miga KH 

PROVIDER: S-EPMC9549924 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature