The variation and evolution of complete human centromeres.

ABSTRACT: Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size¹. As a result, patterns of human centromeric variation and models for their evolution and function remain incomplete, despite centromeres being among the most rapidly mutating regions^2,3. Here, using long-read sequencing, we completely sequenced and assembled all centromeres from a second human genome and compared it to the finished reference genome^4,5. We find that the two sets of centromeres show at least a 4.1-fold increase in single-nucleotide variation when compared with their unique flanks and vary up to 3-fold in size. Moreover, we find that 45.8% of centromeric sequence cannot be reliably aligned using standard methods ow

SUBMITTER: Logsdon GA 

PROVIDER: S-EPMC11062924 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature