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Related Concept Videos

Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Histone Modification02:32

Histone Modification

The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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...
Mutations01:39

Mutations

Overview

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Related Experiment Video

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Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Gene expression, chromosome position and lamin A/C mutations.

Megan J Puckelwartz1, Frederic Fs Depreux, Elizabeth M McNally

  • 1Department of Medicine; The University of Chicago, IL, USA.

Nucleus (Austin, Tex.)
|August 6, 2011
PubMed
Summary

Mutations in the nuclear lamina protein lamin A/C disrupt gene regulation and intranuclear positioning, leading to inherited cardiomyopathy. This study links lamina disruption to misexpressed genes on chromosome 13.

Keywords:
LINC complexLMNAchromosome territorygene expression

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Area of Science:

  • Cell Biology
  • Epigenetics
  • Molecular Biology

Background:

  • The nuclear lamina, primarily composed of lamin A/C, underlies the inner nuclear membrane and plays a crucial epigenetic role in gene expression.
  • Lamin-associated domains (LADs) are DNA regions interacting with the lamina, influencing chromatin conformation and transcriptional regulation, often repressing genes but sometimes promoting transcription near nuclear pores.
  • Mutations in the LMNA gene, encoding lamins A and C, are a known cause of inherited cardiomyopathy.

Purpose of the Study:

  • To investigate the consequences of a genetically disrupted nuclear lamina on gene expression and intranuclear positioning.
  • To examine the role of a specific dominant LMNA mutation (E161K) associated with inherited cardiomyopathy.

Main Methods:

  • Gene expression profiling was conducted on human heart tissue from patients with the E161K LMNA mutation.
  • Analysis focused on identifying misexpressed genes and their association with nuclear membrane interactions.

Main Results:

  • A significant percentage of misexpressed genes were identified on chromosome 13 in hearts with the E161K mutation.
  • Chromosome 13 showed reduced association with the nuclear membrane in E161K mutant cells compared to controls.
  • These findings link abnormal gene expression to altered intranuclear positioning.

Conclusions:

  • The nuclear membrane actively regulates gene expression.
  • Disruption of the nuclear lamina and its interaction with chromatin can lead to misexpressed genes and contribute to human disease, specifically inherited cardiomyopathy.
  • Altered intranuclear positioning of chromosomes is associated with disease-related gene dysregulation.