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Variation in meiotic recombination frequencies among human males

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Abstract

Meiotic recombination is essential for the segregation of homologous chromosomes and the formation of normal haploid gametes. Little is known about patterns of meiotic recombination in human germ cells or the mechanisms that control these patterns. Here, newly developed immunofluorescence techniques, based on the detection of MLH1 (a DNA mismatch repair protein) foci on synaptonemal complexes (SCs) at prophase I of meiosis, were used to examine recombination in human spermatocytes. The mean number of MLH1 foci per cell in all donors was 48.0 with range from 21 to 65. Remarkable variation in the recombination frequency was noted among 11 normal individuals: the mean frequencies of chromosomal recombination foci ranged from a low of 42.5 to a high of 55.0 exchanges. Donor age did not contribute to this variation. There was no correlation between this variation and the frequency of gaps (discontinuities) or splits (unpaired chromosome regions) in the SCs. The mean percentage of cells with gaps was 35% (range: 20% to 58%) and with splits was 7% (range: 0% to 37%). Bivalents without a recombination focus were rare, with a frequency of only 0.3%. Thus, achiasmate chromosomes appear to be rare in human male meiosis.

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Acknowledgements

The authors thank T. Ashley, M. Fritzler, and P. Moens for the generous gift of antibodies. R.H.M. holds the Canada Research Chair in Genetics. This work was funded by the Canadian Institutes of Health Research (CIHR; MA7961). F.S. is the recipient of a CIHR Strategic Training Fellowship in Genetics, Child Development, and Health.

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Authors and Affiliations

  1. Department of Medical Genetics, University of Calgary, Calgary, T2N 4N1, Canada

    Fei Sun & Renée H. Martin

  2. Department of Genetics, Alberta Children’s Hospital, 1820 Richmond Road S.W., Calgary, Alberta, T2T 5C7, Canada

    Fei Sun, Evelyn Ko & Renée H. Martin

  3. Department of Pathology, Rockyview Hospital, Calgary, T2V 1P9, Canada

    Kiril Trpkov

  4. Cancer Center, Biometry Section, Northwestern University Medical School, 60611-4402, Chicago, USA

    Alfred Rademaker

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  1. Fei Sun
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  2. Kiril Trpkov
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  4. Evelyn Ko
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  5. Renée H. Martin
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Correspondence to Renée H. Martin.

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Sun, F., Trpkov, K., Rademaker, A. et al. Variation in meiotic recombination frequencies among human males. Hum Genet 116, 172–178 (2005). https://doi.org/10.1007/s00439-004-1215-6

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