The role of retrotransposons in gene family expansions in the human andmouse genomes

Vaclav Janousek, Christina M. Laukaitis, Alexey Yanchukov, Robert C. Karn

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Retrotransposons comprise a large portion ofmammalian genomes. They contribute to structural changes and more importantly to gene regulation. The expansion and diversification of gene families have been implicated as sources of evolutionary novelties. Given the roles retrotransposons play in genomes, their contribution to the evolution of gene families warrants further exploration. In this study, we found a significant association between two major retrotransposon classes, LINEs and LTRs, and lineage-specific gene family expansions in both the human andmouse genomes. The distribution and diversity differ between LINEs and LTRs, suggesting that each has a distinct involvement in gene family expansion. LTRs are associated with open chromatin sites surrounding the gene families, supporting their involvement in gene regulation, whereas LINEsmay play a structural role promoting gene duplication. Our findings also suggest that gene family expansions, especially in the mouse genome, undergo two phases. The first phase is characterized by elevated deposition of LTRs and their utilization in reshaping gene regulatory networks. The second phase is characterized by rapid gene family expansion due to continuous accumulation of LINEs and it appears that, in some instances at least, this could becomea runawayprocess.Weprovideanexampleinwhichthishashappenedandwepresenta simulation supporting the possibility of the runaway process. Altogether we provide evidence of the contribution of retrotransposons to the expansion and evolution of gene families. Our findings emphasize the putative importance of these elements in diversification and adaptation in the human and mouse lineages.

Original languageEnglish (US)
Pages (from-to)2632-2650
Number of pages19
JournalGenome biology and evolution
Issue number9
StatePublished - Sep 2016


  • LINE
  • LTR
  • SINE
  • gene families
  • retrotransposons
  • transposable elements

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics


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