The structure, function and evolution of a complete human chromosome 8.

ABSTRACT: The complete assembly of each human chromosome is essential for understanding human biology and evolution^1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the sequence of five previously long-standing gaps, including a 2.08-Mb centromeric α-satellite array, a 644-kb copy number polymorphism in the β-defensin gene cluster that is important for disease risk, and an 863-kb variable number tandem repeat at chromosome 8q21.2 that can function as a neocentromere. We show that the centromeric α-satellite array is generally methylated except for a 73-kb hypomethylated region of diverse higher-order α-satellites enriched with CENP-A nucleosomes, consistent with the location of the kinetochore. In

SUBMITTER: Logsdon GA 

PROVIDER: S-EPMC8099727 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature