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Related Experiment Video

Updated: Sep 22, 2025

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

Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees.

Keila Velazquez-Arcelay¹, Mary Lauren Benton², John A Capra^3,4,5

¹Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.

BMC Ecology and Evolution

|May 23, 2022

Summary

This summary is machine-generated.

Long-term balancing selection maintains genetic diversity across species, revealing novel functions beyond immunity. These findings link shared genetic variants to diverse traits like body size and behavior in humans and chimpanzees.

Keywords:

Balancing selection Long-term balancing selection Non-coding variants Phenome-wide association study Trans-species polymorphisms

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

Area of Science:

Evolutionary genetics
Comparative genomics
Human and primate evolution

Background:

Long-term balancing selection (LTBS) preserves genetic variation over millions of years and across speciation events.
Trans-species polymorphisms (TSPs), variants shared between species, often arise from LTBS, particularly in host-pathogen interactions like the primate major histocompatibility complex (MHC).
Hundreds of candidate LTBS regions exist in humans and chimpanzees, but their functions, especially in non-coding DNA, remain largely unknown.

Purpose of the Study:

To investigate the functions of 60 regions with shared polymorphisms (SPs) between humans and chimpanzees, including 19 with strong evidence of LTBS.
To explore potential adaptive roles and trait associations of these conserved genomic regions.

Main Methods:

Integrated diverse genomic annotations, including functional assays, expression quantitative trait loci (eQTL), genome-wide association studies (GWAS), and phenome-wide association studies (PheWAS).
Analyzed 60 previously identified regions with multiple SPs between humans and chimpanzees.
Identified functional annotations and trait associations for these regions.

Main Results:

Functional annotations were identified for 59 of the 60 regions, with 58 showing evidence of gene regulatory function.
Nineteen regions demonstrated associations with specific traits through GWAS or PheWAS.
SPs were associated with immune system phenotypes and, notably, with diverse traits including body size, alcohol intake, cognitive performance, risk-taking behavior, and urate levels.

Conclusions:

The diverse traits associated with non-coding regions with SPs support hypotheses that LTBS influences functions beyond the immune system.
These findings provide genetic support for hypotheses regarding the evolution of behavioral diversity, such as the role of risk sensitivity variation in human and chimpanzee populations.