Human adaptation and evolution by segmental duplication

Megan Dennis, Evan E. Eichler

Research output: Contribution to journalReview article

43 Scopus citations

Abstract

Duplications are the primary force by which new gene functions arise and provide a substrate for large-scale structural variation. Analysis of thousands of genomes shows that humans and great apes have more genetic differences in content and structure over recent segmental duplications than any other euchromatic region. Novel human-specific duplicated genes, ARHGAP11B and SRGAP2C, have recently been described with a potential role in neocortical expansion and increased neuronal spine density. Large segmental duplications and the structural variants they promote are also frequently stratified between human populations with a subset being subjected to positive selection. The impact of recent duplications on human evolution and adaptation is only beginning to be realized as new technologies enhance their discovery and accurate genotyping.

Original languageEnglish (US)
Pages (from-to)44-52
Number of pages9
JournalCurrent Opinion in Genetics and Development
Volume41
DOIs
StatePublished - Dec 1 2016

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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