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Related Experiment Video

Updated: Feb 15, 2026

Examination of Thymic Positive and Negative Selection by Flow Cytometry

Examination of Thymic Positive and Negative Selection by Flow Cytometry

Published on: October 8, 2012

Positive selection on human gamete-recognition genes.

Michael W Hart¹, Daryn A Stover², Vanessa Guerra¹

¹Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.

|January 18, 2018

Summary

This summary is machine-generated.

Genes involved in sperm-egg binding evolve under selection, influencing reproductive compatibility and speciation. Specific gene variants correlate with family size, suggesting roles in human fertility and infertility.

Keywords:

Balancing selection Epistasis Fertilization Linkage disequilibrium Zona pellucida

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Area of Science:

Evolutionary Biology
Reproductive Biology
Human Genetics

Background:

Gene coevolution in sperm and egg proteins drives reproductive compatibility and isolation.
Previous research focused on positive selection in zona pellucida (ZP) genes for sperm-binding proteins.

Purpose of the Study:

Investigate selection pressures on genes involved in sperm-egg interactions.
Identify candidate genes and sites under selection using human population data.
Explore the link between genetic variation and reproductive success.

Main Methods:

Phylogenetic models of codon evolution applied to 1000 Genomes Project data.
Population genetic models to analyze selection hypotheses.
Analysis of Hutterite population data for correlations with family size and birth rate.

Main Results:

Diversifying selection identified in human ZP3 and ZP2 genes.
Positive selection detected in C4BPA, a gene encoding a sperm-binding protein.
No selection found in ZP1, a structural egg coat protein.
Candidate sites in C4BPA and ZP2 correlated with family size and birth rate in Hutterites.
These sites were in linkage disequilibrium in the Hutterite population.

Conclusions:

Evidence supports balancing selection on epistatic interactions between C4BPA and ZP3.
Coevolution of sperm- and egg-expressed genes is driven by selection.
Identified molecular traits may underlie natural reproductive variation and clinical infertility.