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Histone Variants at the Centromere02:30

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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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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...
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Related Experiment Video

Updated: Oct 25, 2025

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells
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Structural Variations of the 3D Genome Architecture in Cervical Cancer Development.

Muhammad Muzammal Adeel1,2, Hao Jiang2, Yibeltal Arega2

  • 1National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan, China.

Frontiers in Cell and Developmental Biology
|August 9, 2021
PubMed
Summary

Structural variations (SVs) driven by human papillomavirus (HPV) are key to cervical cancer (CC). This study reveals novel translocations in CC genomes using Hi-C data, linking genome reorganization to gene expression changes and CC development.

Keywords:
Hi-CSVscervical cancergene expressiontopologically associating domainstranslocation detection

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Area of Science:

  • Genomics
  • Cancer Biology
  • Epigenetics

Background:

  • Human papillomavirus (HPV) integration drives cervical cancer (CC) through genomic structural variations (SVs).
  • SVs impact the 3D genome structure, influencing cancer development.
  • Precise prediction of SVs, particularly translocations, and their effects on gene expression in CC remains underexplored.

Purpose of the Study:

  • To detect structural variations (SVs), specifically translocations, in cervical cancer (CC) using high-throughput chromosome conformation capture (Hi-C) data.
  • To investigate the impact of detected translocations on 3D genome architecture and gene expression in CC.
  • To elucidate the association between genome reorganization, translocations, and gene expression in CC pathogenesis.

Main Methods:

  • Utilized high-throughput chromosome conformation capture (Hi-C) data for SV detection in cervical cancer.
  • Validated Hi-C findings through whole-genome sequencing (WGS) data analysis.
  • Performed enrichment analysis to identify pathways affected by disrupted gene expression.

Main Results:

  • Cervical cancer exhibits altered 3D genome architecture compared to normal tissue, with 24% of the genome switching A/B compartments.
  • Identified high-resolution translocations, including t(4;7)(q13.1;q31.32) and t(1;16)(q21.2;q22.1), using Hi-C data.
  • Disrupted gene expression near translocation sites was linked to CC-related pathways.

Conclusions:

  • Novel SVs and translocations were detected in cervical cancer using Hi-C data.
  • Established a link between genome reorganization, translocations, and altered gene expression in CC.
  • Findings enhance understanding of SV pathogenicity in CC and suggest potential therapeutic targets.