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09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Copy number variation and evolution in humans and chimpanzees.
George H Perry1, Fengtang Yang, Tomas Marques-Bonet
1School of Human Evolution & Social Change, Arizona State University, Tempe, Arizona 85287, USA.
Genome Research
|September 9, 2008
Summary
Copy number variants (CNVs) are key to human diversity. This study shows human and chimpanzee CNVs share genomic regions, suggesting selection on genes involved in inflammation and cell proliferation during human evolution.
Area of Science:
- Genomics
- Evolutionary Biology
- Comparative Genomics
Background:
- Copy number variants (CNVs) contribute to human phenotypic diversity and gene family evolution.
- The evolutionary role of CNVs remains incompletely understood.
- CNVs provide raw material for gene duplication and expansion.
Purpose of the Study:
- To identify CNVs in humans and chimpanzees and fixed copy number differences between species.
- To investigate the evolutionary significance of CNVs by comparing human and chimpanzee genomes.
- To identify genes under selection for copy number changes.
Main Methods:
- Comparative genomic hybridization using a single human microarray platform.
- Analysis of CNVs in 30 humans and 30 chimpanzees.
- Adaptation of population genetic analyses for copy number data.
Main Results:
- Human and chimpanzee CNVs occur in orthologous regions more often than expected by chance.
- CNVs are strongly associated with homologous intrachromosomal segmental duplications.
- Genes involved in inflammatory response and cell proliferation show evidence of positive selection for copy number changes.
Conclusions:
- CNVs play a significant role in the adaptive phenotypic differentiation between humans and chimpanzees.
- Positive selection on copy number changes of specific gene categories may have driven human evolution.
- Understanding CNV evolution is crucial for comprehending species divergence.
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