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,...

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Gene Duplication and Divergence

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...

Pedigree Analysis

Pedigree Analysis

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Law of Segregation

Law of Segregation

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.

You might also read

Related Articles

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

Sort by

Same author

Spontaneous mutation rate and spectrum are modulated by organismal fitness.

Science advances·2026

Same author

Repeatability of gene expression evolution in experimental environmental adaptation.

Nature communications·2026

Same author

Adaptive tracking with antagonistic pleiotropy results in seemingly neutral molecular evolution.

Nature ecology & evolution·2025

Same author

Testing the Mother's Curse Hypothesis in Human Mitochondrial Genome Evolution.

Genome biology and evolution·2025

Same author

Functional synonymous mutations and their evolutionary consequences.

Nature reviews. Genetics·2025

Same author

Repeated Evolution of Transcript Dosage Compensation of Independently Formed Nematode Neo-X Chromosomes.

Genome biology and evolution·2025

Same journal

Ecology and evolution of the social microbiome.

Annual review of ecology, evolution, and systematics·2025

Same journal

What Amphibians Can Teach Us About the Evolution of Parental Care.

Annual review of ecology, evolution, and systematics·2024

Same journal

Simulation Tests of Methods in Evolution, Ecology, and Systematics: Pitfalls, Progress, and Principles.

Annual review of ecology, evolution, and systematics·2023

Same journal

Local adaptation: Causal agents of selection and adaptive trait divergence.

Annual review of ecology, evolution, and systematics·2023

Same journal

Effects of Selection at Linked Sites on Patterns of Genetic Variability.

Annual review of ecology, evolution, and systematics·2023

Same journal

Evolution and Ecology of Parasite Avoidance.

Annual review of ecology, evolution, and systematics·2022

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 9, 2025

Rearing and Double-stranded RNA-mediated Gene Knockdown in the Hide Beetle, Dermestes maculatus

Rearing and Double-stranded RNA-mediated Gene Knockdown in the Hide Beetle, Dermestes maculatus

Published on: December 28, 2016

Patterns and evolutionary consequences of pleiotropy.

Jianzhi Zhang¹

¹Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, Michigan 48109, USA.

Annual Review of Ecology, Evolution, and Systematics

|October 30, 2024

Summary

This summary is machine-generated.

Most genes affect few traits, challenging the extent of pleiotropy. This review explores quantifying pleiotropy, its molecular basis, and evolutionary impacts, including adaptation and aging.

Keywords:

adaptation antagonistic pleiotropy cost of complexity disease mutation

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

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Related Experiment Videos

Last Updated: Jun 9, 2025

Rearing and Double-stranded RNA-mediated Gene Knockdown in the Hide Beetle, Dermestes maculatus

Rearing and Double-stranded RNA-mediated Gene Knockdown in the Hide Beetle, Dermestes maculatus

Published on: December 28, 2016

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

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

Genetics
Evolutionary Biology
Genomics

Background:

Pleiotropy, where one gene influences multiple traits, is a fundamental concept in genetics.
Modern functional genomics enables genome-wide assessment of pleiotropy's extent.

Purpose of the Study:

To review methods for quantifying pleiotropy.
To summarize empirical data on gene pleiotropy.
To discuss the molecular basis and evolutionary consequences of pleiotropy.

Main Methods:

Review of conceptual and operational challenges in measuring pleiotropy.
Analysis of empirical data on gene pleiotropy distributions.
Synthesis of current understanding of pleiotropy's molecular mechanisms and evolutionary implications.

Main Results:

Pleiotropy quantification faces conceptual and operational difficulties.
Empirical data reveal an L-shaped distribution of pleiotropy, with most genes affecting few traits.
Significant advances have been made in understanding the molecular basis and evolutionary consequences of pleiotropy.

Conclusions:

Pleiotropy is widespread but often context-dependent.
Understanding pleiotropy is crucial for fields ranging from medicine to evolutionary theory.
Future research should focus on resolving pleiotropy and its role in adaptation and complex traits.