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

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.6K
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...
34.6K
Incomplete Dominance01:43

Incomplete Dominance

22.6K
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.
22.6K
Pedigree Analysis01:35

Pedigree Analysis

84.3K
Overview
84.3K
Law of Segregation01:49

Law of Segregation

66.1K
When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
66.1K
Genetic Lingo01:11

Genetic Lingo

102.9K
Overview
102.9K
Inheritance01:25

Inheritance

398
Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
398

You might also read

Related Articles

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

Sort by
Same author

A minimalist [2]rotaxane with orthogonal Li<sup>+</sup> and F<sup>-</sup> binding sites and differential fluorescence response.

RSC advances·2026
Same author

A Prioritized Database of Substances of Environmental Concern Used in Marine Coatings.

ACS ES&T water·2026
Same author

ViMST: vision transformer-based dual modality multi-task graph contrastive network for spatial transcriptomics microenvironments investigation.

BMC biology·2026
Same author

P. gingivalis-host interactions direct antibiotic adjuvants for periodontitis antimicrobial therapy.

International journal of oral science·2026
Same author

Research on trajectory tracking control of tracked vehicles based on hydraulic motor system identification and Laguerre-MPC.

PloS one·2026
Same author

Phosphite-Promoted Generation of <i>ortho</i>-Quinodimethanes for Efficient and Scalable Benzannulation.

The Journal of organic chemistry·2026

Related Experiment Video

Updated: Jul 11, 2025

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

10.2K

Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta.

Yi Yang1, Man Qin1, Yuming Zhao1

  • 1Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, People's Republic of China.

Clinical Genetics
|November 8, 2023
PubMed
Summary

Digenic inheritance of genetic variants can cause Amelogenesis imperfecta (AI), a disorder affecting tooth enamel. This study found that combined variants in different genes lead to diverse AI phenotypes, expanding our understanding of this rare condition.

Keywords:
AMELXCOL17A1LAMA3RELTamelogenesis imperfectadigenic inheritance

More Related Videos

Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface
08:26

Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface

Published on: July 10, 2014

15.1K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Related Experiment Videos

Last Updated: Jul 11, 2025

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

10.2K
Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface
08:26

Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface

Published on: July 10, 2014

15.1K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Area of Science:

  • Genetics
  • Dentistry
  • Molecular Biology

Background:

  • Amelogenesis imperfecta (AI) is a group of disorders affecting tooth enamel formation and mineralization.
  • While typically monogenic, digenic inheritance of AI is rarely reported.
  • Understanding genetic heterogeneity is crucial for diagnosing and managing AI.

Purpose of the Study:

  • To investigate digenic inheritance patterns in Amelogenesis imperfecta (AI).
  • To identify genetic variants associated with diverse AI phenotypes in two Chinese families.
  • To elucidate the relationship between combined genetic variants and variable enamel defects.

Main Methods:

  • Recruitment of two nonconsanguineous Chinese families with AI.
  • Whole-exome sequencing to identify genetic variants.
  • RT-PCR and minigene assay to confirm variant pathogenicity.

Main Results:

  • Family 1 proband had AI due to variants in LAMA3 and AMELX, presenting a combined hypoplastic and hypomineralized phenotype.
  • Family 2 proband exhibited irregular enamel defects from combined variants in COL17A1 and RELT.
  • Heterozygous variants in COL17A1 and RELT in other family members resulted in milder phenotypes (horizontal grooves).

Conclusions:

  • Digenic inheritance can cause Amelogenesis imperfecta (AI) with variable phenotypes.
  • Co-occurrence of variants in genes like LAMA3, AMELX, COL17A1, and RELT contributes to AI heterogeneity.
  • This study highlights the importance of considering digenic inheritance for complex AI cases.