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Genetic differences between humans and great apes.

P Gagneux1, A Varki

  • 1Department of Medicine and Glycobiology Research and Training Center, University of California at San Diego, La Jolla, California 92093-0687, USA.

Molecular Phylogenetics and Evolution
|February 13, 2001
PubMed
Summary
This summary is machine-generated.

Human and great ape genomes are remarkably similar, yet possess key genetic differences. A human-specific mutation in the CMP-sialic acid hydroxylase gene causes a global biochemical change, impacting pathogen susceptibility and brain development.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Biochemistry

Background:

  • Humans and African great apes share significant genomic similarities, prompting discussion about their taxonomic classification.
  • Despite similarities, striking biological, life history, and behavioral differences between humans and great apes require genetic explanation.

Purpose of the Study:

  • To identify and review known genetic differences between human and great ape genomes.
  • To explore the implications of these genetic variations, particularly a human-specific mutation in the CMP-sialic acid hydroxylase gene.

Main Methods:

  • Comparative genomics analysis, focusing on human genome sequencing and comparison with great ape genomes.
  • Literature review of reported genetic differences, including cytogenetic variations, repetitive DNA, retroviruses, polymorphisms, gene mutations, duplications, and expression differences.

Main Results:

  • A human-specific inactivating mutation in the CMP-sialic acid hydroxylase gene was identified, leading to the loss of a common mammalian cell-surface sugar in humans.
  • This mutation is the only identified genetic difference to date causing a global biochemical and structural change between humans and great apes.

Conclusions:

  • The CMP-sialic acid hydroxylase mutation has significant implications for human biology, including pathogen susceptibility and brain development.
  • Further research is needed to functionally explore other genetic dissimilarities and understand the multi-step genetic basis of human evolution.