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,...

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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.

In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

You might also read

Related Articles

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

Sort by

Same author

Estrogen Receptor-β Gene Cytosine-Adenine (<i>ESR2</i>-CA) Repeat Polymorphism in Postmenopausal Colon Cancer.

International journal of molecular sciences·2023

Same author

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)·2023

Same author

Sub-GOFA: A tool for Sub-Gene Ontology function analysis in clonal mosaicism using semantic (logical) similarity.

Bioinformation·2022

Same author

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.

Molecular and clinical oncology·2022

Same author

Trimester-specific associations between extracellular vesicle microRNAs and fetal growth.

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·2021

Same author

D-amino acid oxidase (DAO) rare genetic missense variant p.Pro103Leu and gastric cancer.

Molecular and clinical oncology·2021

Search research articles

Related Experiment Video

Updated: Jun 7, 2026

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

Computational gene knockout reveals transdisease-transgene association structure.

Tsutomu Matsunaga¹, Shuhei Kuwata, Masaaki Muramatsu

¹Research and Development Headquarters, NTT Data Corporation, 3-3-9 Toyosu, Koto-ku, Tokyo 135-8671, Japan. matsunagat@nttdata.co.jp

Journal of Bioinformatics and Computational Biology

|October 29, 2010

Summary

Researchers developed a computational method to understand complex gene-disease links. This approach reveals gene classes commonly or selectively associated with various diseases, aiding hypothesis generation.

More Related Videos

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 Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Jun 7, 2026

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

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 Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

Genomics
Computational Biology
Network Medicine

Background:

Genome-wide association studies (GWAS) identify numerous candidate genes for diverse diseases.
A significant challenge is understanding shared genetic factors across multiple conditions.
There is a need for methodologies to formulate hypotheses about multifaceted gene-disease associations.

Purpose of the Study:

To develop a computational method for constructing a transdisease-transgene association structure.
To computationally quantify gene-disease relationships using a network-based approach.
To identify gene classes with common or specific associations across diseases.

Main Methods:

Utilized the Online Mendelian Inheritance in Man (OMIM) database, linking disease and gene pages.
Implemented a 'computational gene knockout' strategy by systematically removing gene pages.
Applied a co-clustering method to gene-disease relations for simultaneous classification of diseases and genes.

Main Results:

A network structure was built connecting over 100 diseases and their related genes.
The computational gene knockout approach successfully quantified gene-disease associations.
The co-clustering analysis revealed distinct gene classes: some commonly associated with multiple diseases, others specific to certain disease classes.

Conclusions:

The developed computational method effectively models transdisease-transgene associations.
The identified gene classes provide insights into shared and specific genetic underpinnings of diseases.
This approach facilitates hypothesis generation for complex gene-disease relationships.