Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

Pleiotropy

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,...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Teeth

Teeth

The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin...

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

Exon Recombination

Exon Recombination

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...

You might also read

Related Articles

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

Sort by

Same author

Genomic Locus Tagged by Lung Function GWAS SNV rs12477314 (2q37.3) Acts as a Regulatory Region for a Systemic Inflammatory Phenotype.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2025

Same author

Isolation and escape mapping of broadly neutralizing antibodies against emerging delta-coronaviruses.

Immunity·2024

Same author

Editorial: Biomolecular modifications in endocrine-related cancers, volume II.

Frontiers in endocrinology·2024

Same author

A potent pan-sarbecovirus neutralizing antibody resilient to epitope diversification.

Cell·2024

Same author

Correction to: A probability model for estimating age in young individuals relative to key legal thresholds: 15, 18 or 21-year.

International journal of legal medicine·2024

Same author

MiRNAs in Extracellular Vesicles as Biomarkers in Plasma of Papillary Thyroid Cancer Patients: A Proof-of-Concept Study.

Biology·2024

Search research articles

Related Experiment Video

Updated: Feb 22, 2026

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

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

Published on: August 15, 2019

A novel PAX9 mutation causing oligodontia.

Eiman Mohammed Daw¹, Christian Saliba¹, Godfrey Grech¹

¹Department of Physiology and Biochemistry, Medical School, University of Malta, Tal-Qroqq, Msida, MSD2020, Malta.

Archives of Oral Biology

|October 2, 2017

Summary

Genetic analysis of a family with missing teeth identified a novel PAX9 gene mutation (A99P) and a potential MSX1 gene variant, providing insights into tooth development.

Keywords:

Family Hypodontia MSX1 Mutation Oligodontia PAX9

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

Related Experiment Videos

Last Updated: Feb 22, 2026

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

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

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

Area of Science:

Genetics
Molecular Biology
Developmental Biology

Background:

Familial aggregation of hypodontia (developmentally missing teeth) suggests a genetic basis.
The MSX1 and PAX9 genes are critical regulators of tooth development.

Observation:

Collected saliva samples and extracted DNA for genetic analysis.
Utilized Polymerase Chain Reaction (PCR) and Sanger sequencing to analyze MSX1 and PAX9 genes.
Identified specific genetic variations within these key developmental genes.

Findings:

Discovered a novel heterozygote missense mutation in exon 3 of the PAX9 gene (c.296G > C, p.A99P) in affected family members.
Identified a potentially pathogenic heterozygote variant in exon 1 of the MSX1 gene (c.119C > G, p.A40G).
The PAX9 A99P mutation is located in the DNA binding domain, suggesting functional impact.

Implications:

The identified PAX9 mutation is predicted to be pathogenic, contributing to the observed hypodontia.
These findings enhance the understanding of genetic factors influencing human tooth development.
Provides insights into the molecular mechanisms underlying tooth agenesis and potential genetic counseling avenues.