cis- and trans-acting elements regulate the mouse psmb9 meiotic recombination hotspot顺式和trans-acting元素调节鼠标psmb9减数分裂重组热点.pdfVIP

Cis- and Trans-Acting Elements Regulate the Mouse Psmb9 Meiotic Recombination Hotspot * ´ ´ Frederic Baudat, Bernard de Massy ´ Institute of Human Genetics, Centre National de la Recherche Scientifique, Unite Propre de Recherche 1142, Montpellier, France In most eukaryotes, the prophase of the first meiotic division is characterized by a high level of homologous recombination between homologous chromosomes. Recombination events are not distributed evenly within the genome, but vary both locally and at large scale. Locally, most recombination events are clustered in short intervals (a few kilobases) called hotspots, separated by large intervening regions with no or very little recombination. Despite the importance of regulating both the frequency and the distribution of recombination events, the genetic factors controlling the activity of the recombination hotspots in mammals are still poorly understood. We previously characterized a recombination hotspot located close to the Psmb9 gene in the mouse major histocompatibility complex by sperm typing, demonstrating that it is a site of recombination initiation. With the goal of uncovering some of the genetic factors controlling the activity of this initiation site, we analyzed this hotspot in both male and female germ lines and compared the level of recombination in different hybrid mice. We show that a haplotype-specific element acts at distance and in trans to activate about 2,000-fold the recombination activity at Psmb9. Another haplotype-specific element acts in cis to repress initiation of recombination, and we propose this control to be due to polymorphisms located within the initi