Skip to main content

A genome-wide map of double-strand breaks in human

Thursday, October 11, 2012 — Poster Session III

10:00 a.m. – Noon

Natcher Conference Center, Building 45




  • F Pratto
  • K Brick
  • P Khil
  • F Smagulova
  • G Petukhova
  • R.D. Camerini-Otero


Meiotic recombination is initiated by the formation of programmed double-strand breaks (DSBs) that cluster in narrow regions called hotspots. The factors that influence DSBs distribution in mammals are not completely understood. To date, genome-wide mapping of meiotic hotspots in humans was only possible based on computational analysis of patterns of linkage disequilibrium in populations. Using LD patterns, more than 30,000 hotspots have been identified. The caveat of LD-based analyses is that they allow only for evaluation of sex-averaged and population-averaged recombination rates. We have recently developed a technique that allowed us to generate a genome-wide map of meiotic DSB hotspots in mouse and here we use it to map hotspots in humans. The molecular features analyzed on this set of hotspots are comparable to those found in mice. The location of DSBs for the most part agrees with the historical hotspots from LD maps. On the broad scale, the genome-wide distribution of DSBs resembles the distribution of male specific crossovers. Both crossovers and DSBs are more frequent in subtelomeric regions in humans. This finding suggests that the frequency of crossovers is directly related to the frequency of DSBs. Therefore regulation at the level of initiation is shaping the recombination landscape.

back to top