Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.

Journal Article (Journal Article;Review)

Our ancestors acquired morphological, cognitive and metabolic modifications that enabled humans to colonize diverse habitats, develop extraordinary technologies and reshape the biosphere. Understanding the genetic, developmental and molecular bases for these changes will provide insights into how we became human. Connecting human-specific genetic changes to species differences has been challenging owing to an abundance of low-effect size genetic changes, limited descriptions of phenotypic differences across development at the level of cell types and lack of experimental models. Emerging approaches for single-cell sequencing, genetic manipulation and stem cell culture now support descriptive and functional studies in defined cell types with a human or ape genetic background. In this Review, we describe how the sequencing of genomes from modern and archaic hominins, great apes and other primates is revealing human-specific genetic changes and how new molecular and cellular approaches - including cell atlases and organoids - are enabling exploration of the candidate causal factors that underlie human-specific traits.

Full Text

Duke Authors

Cited Authors

  • Pollen, AA; Kilik, U; Lowe, CB; Camp, JG

Published Date

  • February 3, 2023

Published In

Start / End Page

  • 1 - 25

PubMed ID

  • 36737647

Pubmed Central ID

  • PMC9897628

Electronic International Standard Serial Number (EISSN)

  • 1471-0064

Digital Object Identifier (DOI)

  • 10.1038/s41576-022-00568-4


  • eng

Conference Location

  • England