Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Imprinting and disease.

Jörn Walter1, Martina Paulsen

  • 1FR 8.2 Genetik, Universität des Saarlandes, Postfach 151150, 66041 Saarbrücken, Germany. j.walter@mx.uni-sb.de

Seminars in Cell & Developmental Biology
|January 14, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

EpiATLAS - a reference for human epigenomic research.

bioRxiv : the preprint server for biology·2026
Same author

Increasing TET Expression and 5-Hydroxymethylcytosine Formation by a Carbocyclic 5-Aza-2'-deoxy-cytidine Antimetabolite.

Angewandte Chemie (International ed. in English)·2026
Same author

Integrated flexible DNA methylation-chromatin segmentation modeling enhances epigenomic state annotation.

Nucleic acids research·2026
Same author

IGF2BP2 Deficiency in Macrophages Impairs Migration, Reprograms Metabolism, and Limits Tumor Progression.

International journal of biological sciences·2026
Same author

Methylomes of human CD4 and CD8 memory T lymphocytes reveal tissue-specific epigenetic signatures for maintenance and recall function.

Immunity & inflammation·2025
Same author

Pipeline Olympics: continuable benchmarking of computational workflows for DNA methylation sequencing data against an experimental gold standard.

Nucleic acids research·2025

Deregulation of imprinted genes, crucial for development, is linked to diseases like Beckwith-Wiedemann syndrome and cancer. Epigenetic modifications control these genes, offering insights into gene regulation and disease mechanisms.

Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Deregulation of imprinted genes is implicated in human diseases including Beckwith-Wiedemann syndrome, Prader-Willi/Angelman syndromes, and cancer.
  • Imprinting diseases exhibit complex mutations and phenotypes affecting growth and neurological functions.

Purpose of the Study:

  • To investigate the role of epigenetic modifications in regulating imprinted gene expression.
  • To understand the mechanisms underlying imprinting diseases and their impact on human health.

Main Methods:

  • Analysis of allele-specific epigenetic modifications (DNA and chromatin).
  • Focus on central regulatory elements controlling neighboring genes in cis.
  • Studying imprinting diseases as models for epigenetic gene control.

Related Experiment Videos

Main Results:

  • Epigenetic modifications, particularly at regulatory elements, mediate allele-specific imprinted gene expression.
  • These modifications influence the expression of multiple neighboring genes over long distances.

Conclusions:

  • Imprinted gene deregulation is a significant factor in various human diseases.
  • Epigenetic mechanisms are central to imprinting gene control and offer potential therapeutic targets.
  • Research into imprinting diseases provides valuable models for understanding epigenetic gene regulation.