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Generation and Purification of Human INO80 Chromatin Remodeling Complexes and Subcomplexes
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The structure, function and evolution of a complete human chromosome 8.

Glennis A Logsdon1, Mitchell R Vollger1, PingHsun Hsieh1

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Nature
|April 8, 2021
PubMed
Summary
This summary is machine-generated.

Researchers have fully assembled human chromosome 8, resolving key gaps including centromeric satellite DNA and variable repeats. This provides new insights into centromere function and evolution in primates.

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Area of Science:

  • Genomics
  • Human Biology
  • Evolutionary Biology

Background:

  • Complete chromosome assembly is crucial for understanding human biology and evolution.
  • Previous assemblies had significant gaps, particularly in complex regions like centromeres.

Purpose of the Study:

  • To achieve the complete linear assembly of human chromosome 8.
  • To resolve previously uncharacterized genomic regions and understand centromere structure and function.
  • To reconstruct the evolutionary history of primate chromosome 8 centromeres.

Main Methods:

  • Utilized complementary long-read sequencing technologies.
  • Performed detailed analysis of centromeric α-satellite arrays, including methylation patterns.
  • Employed comparative and phylogenetic analyses of orthologous centromeres in great apes and macaques.

Main Results:

  • Successfully resolved five long-standing gaps in human chromosome 8 assembly.
  • Characterized a large centromeric α-satellite array, its methylation patterns, and a hypomethylated CENP-A enriched region.
  • Revealed the evolutionary history of higher-order α-satellite structures in the great ape ancestor.
  • Identified an accelerated mutation rate in centromeric satellite DNA compared to unique genomic regions.

Conclusions:

  • The complete assembly of human chromosome 8 provides a high-resolution view of its complex regions.
  • Centromere structure and methylation patterns are conserved but evolve dynamically.
  • Satellite DNA exhibits accelerated evolution, impacting genome plasticity and primate evolution.