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 Video

Updated: Dec 4, 2025

A Rapid In Vivo Bioassay for Developmentally Active Enhancers
00:08

A Rapid In Vivo Bioassay for Developmentally Active Enhancers

1.4K

Analyzing a putative enhancer of optic disc morphology.

Vladimir Babenko1,2, Roman Babenko3,4, Yuri Orlov3,4,5

  • 1Institute of Cytology and Genetics, Lavrentyeva 10, Novosibirsk, 630090, Russia. bob@bionet.nsc.ru.

BMC Genetics
|October 23, 2020
PubMed
Summary

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

Genetic Characterisation of Closely Related <i>Lactococcus lactis</i> Strains Used in Dairy Starter Cultures.

International journal of molecular sciences·2026
Same author

Neurotransmitter Genes in the Nucleus Accumbens That Are Involved in the Development of a Behavioral Pathology After Positive Fighting Experiences and Their Deprivation: A Conceptual Paradigm for Data Analysis.

International journal of molecular sciences·2025
Same author

Brain-Region-Specific Genes Form the Major Pathways Featuring Their Basic Functional Role: Their Implication in Animal Chronic Stress Model.

International journal of molecular sciences·2024
Same author

Elucidation of the Landscape of Alternatively Spliced Genes and Features in the Dorsal Striatum of Aggressive/Aggression-Deprived Mice in the Model of Chronic Social Conflicts.

Genes·2023
Same author

Effects of Positive Fighting Experience and Its Subsequent Deprivation on the Expression Profile of Mouse Hippocampal Genes Associated with Neurogenesis.

International journal of molecular sciences·2023
Same author

Advances of Brain Transcriptomics.

Genes·2022

Genetic variations in a specific gene region influence optic disc size. East Asian populations show a unique haplotype that silences the Growth Factor Independent Transcription Repressor 1 (GFI1) gene, potentially increasing optic disc area and glaucoma risk.

Area of Science:

  • Genetics
  • Ophthalmology
  • Human Evolution

Background:

  • Genome-wide association studies link the CDC7-TGFBR3 intergenic region on chromosome 1 to optic disc area size.
  • The Genotype-Tissue Expression (GTEx) project identified eQTL markers revealing a long-range silencer of the Growth Factor Independent Transcription Repressor 1 (GFI1) gene in this region.
  • GFI1, a developmental gene involved in sensory neuron and hematopoietic development, is implicated in regulating optic disc area through long-range gene interactions.

Purpose of the Study:

  • To elucidate the functional mechanism by which the CDC7-TGFBR3 intergenic region influences optic disc area size.
  • To investigate the role of GFI1 gene expression regulation in determining optic disc morphology.
  • To explore population-specific genetic variations within this regulatory region and their potential health implications.
Keywords:
1000GPAluCDC7EnhancersGFI1GTExGWASGlaucomaOptic disc sizeTGFB3

More Related Videos

4-Dimensional Imaging of Zebrafish Optic Cup Morphogenesis
07:26

4-Dimensional Imaging of Zebrafish Optic Cup Morphogenesis

Published on: May 26, 2021

3.7K
Dissection and Immunostaining of Imaginal Discs from Drosophila melanogaster
10:10

Dissection and Immunostaining of Imaginal Discs from Drosophila melanogaster

Published on: September 20, 2014

27.4K

Related Experiment Videos

Last Updated: Dec 4, 2025

A Rapid In Vivo Bioassay for Developmentally Active Enhancers
00:08

A Rapid In Vivo Bioassay for Developmentally Active Enhancers

1.4K
4-Dimensional Imaging of Zebrafish Optic Cup Morphogenesis
07:26

4-Dimensional Imaging of Zebrafish Optic Cup Morphogenesis

Published on: May 26, 2021

3.7K
Dissection and Immunostaining of Imaginal Discs from Drosophila melanogaster
10:10

Dissection and Immunostaining of Imaginal Discs from Drosophila melanogaster

Published on: September 20, 2014

27.4K

Main Methods:

  • Analysis of haplotype distribution in the putative enhancer region using data from the 1000 Genomes Project across four continental supergroups.
  • Assessment of eQTL markers from the Genotype-Tissue Expression project to identify regulatory elements.
  • Comparison of haplotype frequencies and patterns between different ethnic populations.

Main Results:

  • East Asian (EAS) populations exhibit a highly homogenous unimodal haplotype distribution (major haplotype frequency 0.9) in the regulatory region.
  • A European-specific haplotype was observed with a frequency of 0.21.
  • The major haplotype in EAS populations appears to silence GFI1 gene expression, correlating with larger optic disc areas characteristic of these populations. The regulatory element overlaps a primate-specific AluJo element.

Conclusions:

  • Population-specific distribution of GFI1 enhancer alleles, particularly the silencing haplotype in East Asians, may contribute to increased optic disc area.
  • These genetic variations could predispose certain ethnic groups to conditions like glaucoma.