Rapid sequence and expression divergence suggest selection for novel function in primate-specific KRAB-ZNF genes

Mol Biol Evol. 2010 Nov;27(11):2606-17. doi: 10.1093/molbev/msq157. Epub 2010 Jun 23.


Recent segmental duplications (SDs), arising from duplication events that occurred within the past 35-40 My, have provided a major resource for the evolution of proteins with primate-specific functions. KRAB zinc finger (KRAB-ZNF) transcription factor genes are overrepresented among genes contained within these recent human SDs. Here, we examine the structural and functional diversity of the 70 human KRAB-ZNF genes involved in the most recent primate SD events including genes that arose in the hominid lineage. Despite their recent advent, many parent-daughter KRAB-ZNF gene pairs display significant differences in zinc finger structure and sequence, expression, and splicing patterns, each of which could significantly alter the regulatory functions of the paralogous genes. Paralogs that emerged on the lineage to humans and chimpanzees have undergone more evolutionary changes per unit of time than genes already present in the common ancestor of rhesus macaques and great apes. Taken together, these data indicate that a substantial fraction of the recently evolved primate-specific KRAB-ZNF gene duplicates have acquired novel functions that may possibly define novel regulatory pathways and suggest an active ongoing selection for regulatory diversity in primates.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Base Sequence
  • Cluster Analysis
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • Genes, Duplicate / genetics
  • Genetic Variation*
  • Genome, Human / genetics
  • Humans
  • Primates / genetics*
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism*
  • Segmental Duplications, Genomic / genetics
  • Selection, Genetic*
  • Sequence Homology, Nucleic Acid
  • Species Specificity
  • Zinc Fingers / genetics*


  • Repressor Proteins