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Related Concept Videos

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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 variants are also...
Chromosome Structure02:40

Chromosome Structure

A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Replication in Eukaryotes01:29

Replication in Eukaryotes

In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...

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Related Experiment Video

Updated: May 20, 2026

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins
05:35

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins

Published on: March 3, 2016

Functional epialleles at an endogenous human centromere.

Kristin A Maloney1, Lori L Sullivan, Justyne E Matheny

  • 1Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA.

Proceedings of the National Academy of Sciences of the United States of America
|August 1, 2012
PubMed
Summary

Human centromeres, marked by centromeric protein A (CENP-A), can assemble at either of two alpha-satellite arrays on chromosome 17 (HSA17). This centromere location is stable and heritable, revealing centromeric epialleles in humans.

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Area of Science:

  • Genetics
  • Epigenetics
  • Molecular Biology

Background:

  • Human centromeres are characterized by alpha-satellite DNA and the histone variant centromeric protein A (CENP-A).
  • While most chromosomes have one higher-order repeat (HOR) array, Homo sapiens chromosome 17 (HSA17) possesses two: D17Z1 and D17Z1-B.
  • Previously, only D17Z1 was associated with CENP-A assembly.

Purpose of the Study:

  • To investigate the de novo centromere assembly potential of both D17Z1 and D17Z1-B arrays.
  • To determine if CENP-A can assemble at either array in human cells.
  • To examine the stability and heritability of CENP-A assembly sites on HSA17.

Main Methods:

  • Human artificial chromosome assembly assays.
  • Immunostaining and chromatin analyses in human cells.
  • Multigenerational family studies to track inheritance.

Main Results:

  • Both D17Z1 and D17Z1-B can independently support de novo centromere assembly.
  • CENP-A assembly occurs at either D17Z1 or D17Z1-B in human cells, with some individuals being functional heterozygotes.
  • CENP-A location is stable and transmitted through meiosis, with evidence of inheritance across generations.
  • A correlation exists between variant repeat units in D17Z1 and CENP-A assembly at D17Z1-B.

Conclusions:

  • Centromeric epialleles exist on an endogenous human chromosome (HSA17).
  • The mechanisms determining human centromere identity are complex and involve epigenetic regulation.
  • The plasticity of centromere formation suggests alternative strategies for centromere specification.