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Updated: Jul 10, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Intra- and interspecific variation in primate gene expression patterns.

Wolfgang Enard¹, Philipp Khaitovich, Joachim Klose

¹Max-Planck-Institute for Evolutionary Anthropology, Inselstrasse 22, D-04103 Leipzig, Germany.

Science (New York, N.Y.)

|April 16, 2002

Summary

Human and chimpanzee gene expression differs significantly, especially in the brain. This study reveals pronounced changes in human gene and protein expression, contributing to species differences.

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Area of Science:

Evolutionary biology
Genomics
Comparative transcriptomics

Background:

Humans and chimpanzees share 98.7% of their genomic DNA.
Despite high genetic similarity, significant morphological, behavioral, and cognitive differences exist.
Altered gene expression is a potential driver of these species-specific traits.

Purpose of the Study:

To investigate species-specific gene and protein expression patterns across humans, chimpanzees, orangutans, and macaques.
To identify the genetic basis for differences between humans and their closest relatives.
To examine evolutionary changes in gene expression, particularly in the human brain.

Main Methods:

Comparative transcriptome analysis using microarrays in blood leukocytes, liver, and brain tissues.
Comparative proteomic analysis using two-dimensional gel electrophoresis for humans and chimpanzees.
Inclusion of three mouse species to model evolutionary distances.

Main Results:

Identified distinct, species-specific gene expression profiles across the studied primates.
Observed particularly pronounced alterations in gene and protein expression within the human brain.
Demonstrated significant divergence in gene expression patterns even among closely related species.

Conclusions:

Changes in gene and protein expression play a crucial role in human evolution.
The human brain exhibits unique and accelerated evolutionary changes at the gene expression level.
Comparative transcriptomics and proteomics are powerful tools for understanding species divergence.