Correlations between Synaptic Initiation and Meiotic Recombination: A Study of Humans and Mice

• Published in: American journal of human genetics Vol. 98; no. 1; pp. 102 - 115
• Main Authors: Gruhn, Jennifer R., Al-Asmar, Nasser, Fasnacht, Rachael, Maylor-Hagen, Heather, Peinado, Vanessa, Rubio, Carmen, Broman, Karl W., Hunt, Patricia A., Hassold, Terry
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 07.01.2016; Cell Press; Elsevier
• Subjects: Animals; Cell division; Correlation analysis; Female; Genomics; Human subjects; Humans; Male; Meiosis - genetics; Mice; Recombination, Genetic; Rodents; Synapses - physiology
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1016/j.ajhg.2015.11.019

Meiotic recombination is initiated by programmed double strand breaks (DSBs), only a small subset of which are resolved into crossovers (COs). The mechanism determining the location of these COs is not well understood. Studies in plants, fungi, and insects indicate that the same genomic regions are involved in synaptic initiation and COs, suggesting that early homolog alignment is correlated with the eventual resolution of DSBs as COs. It is generally assumed that this relationship extends to mammals, but little effort has been made to test this idea. Accordingly, we conducted an analysis of synaptic initiation sites (SISs) and COs in human and mouse spermatocytes and oocytes. In contrast to our expectation, we observed remarkable sex- and species-specific differences, including pronounced differences between human males and females in both the number and chromosomal location of SISs. Further, the combined data from our studies in mice and humans suggest that the relationship between SISs and COs in mammals is a complex one that is not dictated by the sites of synaptic initiation as reported in other organisms, although it is clearly influenced by them.