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Related Concept Videos

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
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Most animal cells comprise a pair of centrioles together called a centrosome. The cell duplicates its centrosome and contains two centrosomes side-by-side, which begin to move apart during the prophase. As the centrosomes migrate to two different sides of the cell, microtubules start extending from each centrosome toward the other end. The mitotic spindle is composed of the centrosomes and their emerging microtubules.
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Related Experiment Video

Updated: Jun 29, 2025

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins
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The variation and evolution of complete human centromeres.

Glennis A Logsdon1,2, Allison N Rozanski1, Fedor Ryabov3

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

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Human centromeres are highly variable and difficult to sequence. New research reveals significant size variation, novel repeat structures, and differing kinetochore positions, offering insights into centromere evolution.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Human centromeres are challenging to sequence due to repetitive DNA and large size.
  • Understanding centromeric variation, evolution, and function is crucial but incomplete.
  • Centromeres are among the most rapidly mutating regions in the human genome.

Purpose of the Study:

  • To fully sequence and assemble all human centromeres using advanced long-read technology.
  • To compare centromeric variation between two human genomes.
  • To investigate the evolutionary dynamics of centromeres across primate species.

Main Methods:

  • Long-read sequencing of a second human genome.
  • Comparative analysis of centromeric sequences with the reference human genome.
  • Sequencing and assembly of orthologous centromeres from chimpanzee, orangutan, and macaque genomes.
  • DNA methylation and CENP-A chromatin immunoprecipitation.

Main Results:

  • Centromeres exhibit at least a 4.1-fold increase in single-nucleotide variation and up to 3-fold size variation compared to unique genomic regions.
  • 45.8% of centromeric sequence is unalignable with standard methods due to novel alpha-satellite higher-order repeats (HORs).
  • 26% of centromeres show differing kinetochore positions (>500 kb) based on DNA methylation and CENP-A ChIP.
  • Comparative primate analyses reveal near-complete turnover of alpha-satellite HORs, with species-specific changes.
  • Phylogenetic analysis indicates limited recombination across centromeres and a monophyletic origin for novel alpha-satellite HORs.

Conclusions:

  • Human centromeres display extensive variation in sequence, size, and epigenetic organization.
  • Rapid evolution and turnover of alpha-satellite HORs drive centromere diversification across primates.
  • The findings provide a framework for estimating the rate of centromeric DNA amplification and mutation.