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

Control elements within the PWS/AS imprinting box and their function in the imprinting process.

Boris Kantor1, Kirill Makedonski, Yael Green-Finberg

  • 1Department of Cellular Biochemistry and Human Genetics, The Hebrew University, Hadassah Medical School, Jerusalem, Israel.

Human Molecular Genetics
|February 14, 2004
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

Elevated cfDNA after exercise is derived primarily from mature polymorphonuclear neutrophils, with a minor contribution of cardiomyocytes.

Cell reports. Medicine·2026
Same author

Correction: Human DNA levels in feces reflect gut inflammation and associate with presence of gut species in IBD patients across the age spectrum.

Microbiome·2026
Same author

Cell-specific DNA methylation in human alpha and beta cells regulates gene expression in type 2 diabetes.

Nature metabolism·2026
Same author

Human DNA levels in feces reflect gut inflammation and associate with presence of gut species in IBD patients across the age spectrum.

Microbiome·2026
Same author

Plasma cell-free DNA markers predict occult metastases in patients with resectable pancreatic ductal adenocarcinoma.

Clinical and translational medicine·2026
Same author

CRISPR-Cas editing technologies for viral-mediated gene therapies of human diseases: Mechanisms, progress, and challenges.

Molecular therapy. Nucleic acids·2026

Researchers identified five cis elements controlling genomic imprinting in the Prader-Willi/Angelman syndrome domain. These elements establish and maintain maternal and paternal imprints, offering insights into imprinting control mechanisms.

Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • The Prader-Willi/Angelman syndrome (PWS/AS) domain on human chromosome 15q11-q13 is regulated by an imprinting control center (IC).
  • Minideletions in PWS/AS patients identified two elements (AS-SRO and PWS-SRO) as the IC, but the molecular mechanism remains unclear.

Purpose of the Study:

  • To elucidate the molecular mechanism governing imprinting in the PWS/AS domain.
  • To generate a mouse model that recapitulates the imprinting process.

Main Methods:

  • Generated a minitransgene (AS-SMP) comprising AS-SRO and the Snrpn minimal promoter (mouse ortholog of PWS-SRO).
  • Created and tested five minitransgenes with deletions in the AS-SMP to identify functional cis elements.
  • Analyzed the role of identified cis elements in establishing and maintaining imprints.

Related Experiment Videos

Main Results:

  • The AS-SMP minitransgene reliably recapitulated all steps of the imprinting process.
  • Five cis elements within the minimal promoter were identified: two de novo methylation signals (DNS) for maternal imprinting, one allele discrimination signal for paternal imprinting, and two elements for maintaining paternal imprinting.
  • Two functionally redundant sets of these five elements were found in the endogenous mouse sequence, explaining conflicting previous findings.

Conclusions:

  • A set of five cis elements precisely controls the imprinting process in the PWS/AS domain.
  • These elements bind specific proteins, suggesting a mechanism for trans-acting factor involvement.
  • The findings provide a foundation for studying the molecular control of genomic imprinting.