Evolutionarily diverged regulation of X-chromosomal genes as a primal event in mouse reproductive isolation

PLoS Genet. 2014 Apr 17;10(4):e1004301. doi: 10.1371/journal.pgen.1004301. eCollection 2014 Apr.

Abstract

Improper gene regulation is implicated in reproductive isolation, but its genetic and molecular bases are unknown. We previously reported that a mouse inter-subspecific X chromosome substitution strain shows reproductive isolation characterized by male-specific sterility due to disruption of meiotic entry in spermatogenesis. Here, we conducted comprehensive transcriptional profiling of the testicular cells of this strain by microarray. The results clearly revealed gross misregulation of gene expression in the substituted donor X chromosome. Such misregulation occurred prior to detectable spermatogenetic impairment, suggesting that it is a primal event in reproductive isolation. The misregulation of X-linked genes showed asymmetry; more genes were disproportionally downregulated rather than upregulated. Furthermore, this misregulation subsequently resulted in perturbation of global transcriptional regulation of autosomal genes, probably by cascading deleterious effects. Remarkably, this transcriptional misregulation was substantially restored by introduction of chromosome 1 from the same donor strain as the X chromosome. This finding implies that one of regulatory genes acting in trans for X-linked target genes is located on chromosome 1. This study collectively suggests that regulatory incompatibility is a major cause of reproductive isolation in the X chromosome substitution strain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Biological Evolution
  • Chromosomes, Mammalian / genetics*
  • Female
  • Gene Expression Profiling / methods
  • Gene Expression Regulation / genetics*
  • Genes, X-Linked / genetics*
  • Male
  • Mice
  • Reproductive Isolation
  • Spermatogenesis / genetics
  • Transcription, Genetic / genetics
  • X Chromosome / genetics*
  • X Chromosome Inactivation / genetics

Grants and funding

This study was supported by the Transdisciplinary Research Integration Center Project of Research Organization of Information and Systems. This work was also supported by JSPS KAKENHI (Grant number 23770097) and MEXT KAKENHI (Grant number 24113524). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.