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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 characterized.

Human Genetics

Human Genetics

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Synteny and Evolution

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Related Experiment Video

Updated: May 21, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Human brain evolution: from gene discovery to phenotype discovery.

Todd M Preuss¹

¹Yerkes National Primate Research Center, Emory University, Atlanta, GA 30322, USA. tpreuss@emory.edu

Proceedings of the National Academy of Sciences of the United States of America

|June 23, 2012

Summary

This summary is machine-generated.

Comparative genomics reveals extensive genetic differences between humans and chimpanzees, impacting human evolution. Understanding the link between these genetic changes and new phenotypic discoveries remains challenging.

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Area of Science:

Evolutionary biology
Genomics
Human evolution

Background:

Comparative genomics and advanced technologies are revolutionizing the study of human evolution.
Knowledge of gene expression changes, positive selection, and genomic alterations (duplications, translocations, deletions) in human evolution is rapidly expanding.
Genetic divergence between humans and chimpanzees is greater than previously estimated, challenging earlier assumptions of high genome identity.

Purpose of the Study:

To explore the expanding understanding of genetic changes during human evolution.
To investigate the complex relationship between genetic alterations and phenotypic evolution.
To highlight the potential of genomic studies for uncovering novel human phenotypic specializations.

Main Methods:

Comparative genomics analysis
Genome-wide surveys of gene expression changes
Identification of selection-driven sequence changes
Investigation of specific genes like FOXP2

Main Results:

Genetic differences between humans and chimpanzees are more substantial than previously thought.
The link between specific genetic changes (e.g., FOXP2 gene) and phenotypic evolution (e.g., speech, language) is complex and not fully understood.
Genomic studies offer opportunities for discovering previously unrecognized human phenotypic specializations.

Conclusions:

While significant advancements have been made in understanding human genome evolution, connecting genetic changes to phenotypic outcomes remains a key challenge.
The FOXP2 gene serves as a case study for the complexities in linking genetic evolution to specialized human traits like language.
Genomic approaches provide a promising avenue for identifying and testing hypotheses about unique human phenotypic adaptations using non-invasive methods.