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

Incomplete Dominance01:43

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.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Pleiotropy01:33

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,...
Degenerative Disc Disease ll: Pathophysiology01:23

Degenerative Disc Disease ll: Pathophysiology

The symptoms of degenerative disc disease arise from a combination of mechanical compression, vascular compromise, and biochemical inflammation, which together disrupt nerve function and produce pain.Mechanical CompressionDisc degeneration reduces height and elasticity, predisposing to herniation of the nucleus pulposus, a major cause of radicular pain. Herniations may be protrusion (bulging with intact annulus), extrusion (nucleus extends beyond disc but remains connected), or sequestration...

You might also read

Related Articles

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

Sort by
Same author

<i>ENAM</i> Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.

Journal of dental research·2024
Same author

Recessive Mutations in <i>ACP4</i> Cause Amelogenesis Imperfecta.

Journal of dental research·2021
Same author

<i>FAM83H</i> and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Journal of dental research·2020
Same author

Alteration of Exon Definition Causes Amelogenesis Imperfecta.

Journal of dental research·2020
Same author

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.

Journal of dental research·2019
Same author

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Journal of dental research·2018

Related Experiment Video

Updated: Jun 27, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
08:12

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

Published on: March 29, 2018

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

D A McKnight1, J P Simmer, P S Hart

  • 1Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, DHHS, 9000 Rockville Pike, Bldg. 30, Bethesda, MD 20892, USA.

Journal of Dental Research
|November 26, 2008
PubMed
Summary

Mutations in the DSPP gene can cause dentinogenesis imperfecta (DGI) or dentin dysplasia (DD). This study found overlapping DSPP mutations can lead to either DGI or DD, possibly due to genetic modifiers.

More Related Videos

Isolation, Characterization and Comparative Differentiation of Human Dental Pulp Stem Cells Derived from Permanent Teeth by Using Two Different Methods
14:52

Isolation, Characterization and Comparative Differentiation of Human Dental Pulp Stem Cells Derived from Permanent Teeth by Using Two Different Methods

Published on: November 24, 2012

Isolation, Culture, and Characterization of Dental Pulp Stem Cells from Human Deciduous and Permanent Teeth
02:33

Isolation, Culture, and Characterization of Dental Pulp Stem Cells from Human Deciduous and Permanent Teeth

Published on: May 17, 2024

Related Experiment Videos

Last Updated: Jun 27, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
08:12

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

Published on: March 29, 2018

Isolation, Characterization and Comparative Differentiation of Human Dental Pulp Stem Cells Derived from Permanent Teeth by Using Two Different Methods
14:52

Isolation, Characterization and Comparative Differentiation of Human Dental Pulp Stem Cells Derived from Permanent Teeth by Using Two Different Methods

Published on: November 24, 2012

Isolation, Culture, and Characterization of Dental Pulp Stem Cells from Human Deciduous and Permanent Teeth
02:33

Isolation, Culture, and Characterization of Dental Pulp Stem Cells from Human Deciduous and Permanent Teeth

Published on: May 17, 2024

Area of Science:

  • Genetics
  • Oral Biology
  • Molecular Medicine

Background:

  • Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are rare genetic disorders affecting dentin formation.
  • These conditions are typically caused by mutations in the dentin sialophosphoprotein (DSPP) gene and often exhibit distinct phenotypes within families.
  • Previous research suggested a correlation between the location of DSPP frameshift mutations and the resulting phenotype, with mutations in the early repeat domain linked to DD and 3' mutations to DGI.

Purpose of the Study:

  • To investigate a family presenting with dentin dysplasia (DD) and a novel DSPP mutation.
  • To determine if DSPP mutations can result in variable phenotypes (DGI or DD) within families.
  • To explore the potential role of genetic modifiers in DSPP-related disorders.

Main Methods:

  • Genetic analysis of a family with dentin dysplasia.
  • Identification and characterization of a novel frameshift mutation in the DSPP gene (c.3141delC).
  • Comparison of mutation location and associated phenotype with previously reported cases.

Main Results:

  • A novel 1-base pair deletion frameshift mutation (c.3141delC) in the DSPP gene was identified in a family with dentin dysplasia (DD).
  • This mutation is located within the DSPP repeat domain, an area previously associated exclusively with the DGI phenotype.
  • The findings demonstrate that mutations in the same region of the DSPP gene can lead to either DGI or DD.

Conclusions:

  • Overlapping DSPP mutations can result in either dentinogenesis imperfecta or dentin dysplasia phenotypes.
  • The specific phenotype (DGI or DD) associated with certain DSPP mutations may be influenced by genetic modifiers.
  • Further research is needed to identify the genetic modifier(s) closely linked to DSPP that influence disease presentation.