Human Male Recombination Maps for Individual Chromosomes

Fei Sun, Maria Oliver-Bonet, Thomas Liehr, Heike Starke, Evelyn Ko, Alfred Rademaker, Joaquima Navarro, Jordi Benet, Renée H. Martin

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111 Citations (Scopus)

Abstract

Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques followed by centromere-specific multicolor fluorescence in situ hybridization in human spermatocytes. The mean frequency of autosomal recombination foci was 49.8 ± 4.3, corresponding to a genetic length of 2,490 cM. All autosomal bivalents had at least one recombination focus. In contrast, the XY bivalent had a recombination focus in 73% of nuclei, suggesting that a relatively large proportion of spermatocytes may be at risk for nondisjunction of the XY bivalent or elimination by meiotic arrest. There was a very strong correlation between mean length of the synaptonemal complex (SC) and the number of recombination foci per SC. Each bivalent presented a distinct distribution of recombination foci, but in general, foci were near the distal parts of the chromosome, with repression of foci near the centromere. The position of recombination foci demonstrated positive interference, but, in rare instances, foci were very close to one another.
Original languageEnglish
Pages (from-to)521-531
JournalAmerican Journal of Human Genetics
Volume74
DOIs
Publication statusPublished - 1 Jan 2004

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