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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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...
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,...

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Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Published on: September 7, 2017

Allele-specific DNA methylation: beyond imprinting.

Benjamin Tycko1

  • 1Institute for Cancer Genetics and Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA. bt12@columbia.edu

Human Molecular Genetics
|September 22, 2010
PubMed
Summary

Allele-specific DNA methylation (ASM), gene expression (ASE), and transcription factor binding (ASTF) are widespread in normal human tissues. These asymmetries are primarily driven by cis-acting regulatory genetic variations, offering insights into gene regulation and disease susceptibility.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Allele-specific DNA methylation (ASM) and allele-specific gene expression (ASE) are known mechanisms in genomic imprinting and X chromosome inactivation.
  • Allelic asymmetries, including allele-specific transcription factor binding (ASTF), are now recognized as pervasive in normal human tissues, affecting numerous autosomal genes.

Purpose of the Study:

  • To map allele-specific asymmetries (ASM, ASE, ASTF) genome-wide in human tissues.
  • To investigate the role of cis-acting regulatory polymorphisms in these allelic asymmetries.
  • To explore the potential of these findings in understanding gene regulation and disease susceptibility.

Main Methods:

  • Genome-wide mapping of ASM, ASE, and ASTF using microarray and Next-Generation Sequencing (NGS) technologies.
  • Analysis of quantitative trait loci (eQTLs and meQTLs) to identify regulatory elements.

Main Results:

  • ASM, ASE, and ASTF are prevalent across the genome in normal human tissues.
  • These allelic asymmetries are predominantly explained by cis-acting regulatory polymorphisms.
  • Expression and methylation quantitative trait loci are closely related to these observed asymmetries.

Conclusions:

  • Cis-acting regulatory polymorphisms are the primary drivers of widespread allelic asymmetries in gene regulation.
  • Further research is needed to elucidate the precise mechanisms and to utilize these findings for disease association studies.
  • High-resolution mapping and mechanistic studies are crucial for future advancements.