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 Concept Videos

Pleiotropy01:33

Pleiotropy

43.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.2K
Mismatch Repair01:36

Mismatch Repair

43.5K
Overview
43.5K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

36.8K
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...
36.8K
Exon Recombination02:32

Exon Recombination

4.1K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
4.1K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.7K
Mismatch Repair01:20

Mismatch Repair

6.3K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
6.3K

You might also read

Related Articles

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

Sort by
Same author

Cancer-Associated Fibroblast-Targeted Nanomedicine in Solid Tumor Therapy: From Mechanisms of Therapeutic Resistance to Precision Stromal Modulation.

International journal of nanomedicine·2026
Same author

Superior Selective and Fast NH<sub>3</sub> Adsorption of Soft Porous MOF/Ionic Liquid Composites with Ordering Phase Transitions.

Journal of the American Chemical Society·2026
Same author

<i>LsToll</i> Gene Mediates Antibacterial Immunity and Developmental Regulation in <i>Loxostege sticticalis</i>.

Insects·2026
Same author

Risk factors for recurrent abortion after induced abortion in Chinese women: a prospective study.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2026
Same author

Rhizosphere Functional Plasticity and the Keystone Taxon <i>Sphingomonas</i> Facilitate Sweet Cherry Adaptation to Semi-Arid Stress.

Plants (Basel, Switzerland)·2026
Same author

Unprecedented 2024 East Antarctic winter heatwave driven by polar vortex weakening and amplified by anthropogenic warming.

NPJ climate and atmospheric science·2026

Related Experiment Video

Updated: Jul 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Duane L Guernsey1, Makoto Matsuoka, Haiyan Jiang

  • 1Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.

Nature Genetics
|March 2, 2011
PubMed
Summary

Meier-Gorlin syndrome, a rare genetic disorder, is linked to mutations in ORC4, a key DNA replication gene. This study identifies the first vertebrate germline mutations in origin recognition complex genes.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Jul 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by primordial dwarfism, small ears, and absent or small patellae.
  • Identifying the genetic basis of rare syndromes is crucial for diagnosis and understanding developmental processes.

Observation:

  • Researchers investigated families with Meier-Gorlin syndrome using genetic mapping and sequencing.
  • Mutations were identified in the ORC4 gene, a component of the eukaryotic origin recognition complex, in affected individuals.

Findings:

  • Three distinct mutations in the ORC4 gene were found in five individuals with Meier-Gorlin syndrome.
  • In ORC4-negative cases, potential mutations in related origin recognition genes (ORC1, CDT1) were observed.
  • A human ORC4 mutation was functionally validated as pathogenic in yeast models, affecting cell growth.

Implications:

  • This research identifies the first germline mutations in origin recognition complex genes in a vertebrate, specifically linking ORC4 to Meier-Gorlin syndrome.
  • The findings provide insights into the essential role of DNA replication initiation in human development.
  • Understanding these genetic underpinnings may lead to improved diagnostic strategies for rare developmental disorders.