Crossing over analysis at pachytene in man

The distribution of anti-MLH1 (MutL homologue 1) antibody labelling was studied in human prophase meiocytes. A labelling pattern consisting of distinct foci, always associated with the synaptonemal complex (SC) and never in closely juxtaposed pairs, was observed. Comparison of the number and general positions of autosomal foci with previous studies of the number and positions of autosomal chiasmata indicates that the anti-MLH1 antibody marks sites of crossing over in human pachytene spermatocytes. A mean number of 50.9 autosomal foci was observed from 46 human pachytene spermatocytes corresponding to a genetic length of 2545 cM. Division of these spermatocytes into sub-stages revealed that the number of foci remains stable throughout pachytene. A focus was found on the XY bivalent in 56.5% of the nuclei. The presence or absence of foci from the XY bivalent could not be correlated to pachytene sub-stage.

[1]  D. Laurie,et al.  Further studies on chiasma distribution and interference in the human male , 1985, Annals of human genetics.

[2]  T. Prolla,et al.  Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over , 1996, Nature Genetics.

[3]  A. Chandley,et al.  On the nature and extent of XY pairing at meiotic prophase in man. , 1984, Cytogenetics and cell genetics.

[4]  A.T.C. Carpenter.  Chiasma function , 1994, Cell.

[5]  A. Mcdermott.  The frequency and distribution of chiasmata in man , 1973, Annals of human genetics.

[6]  M. Hultén.  Chiasma distribution at diakinesis in the normal human male. , 2009, Hereditas.

[7]  J. Lindsten,et al.  Cytogenetic aspects of human male meiosis. , 1973, Advances in human genetics.

[8]  G. Jagiello,et al.  An analysis of the chromomere map and chiasmata characteristics of human diplotene spermatocytes. , 1988, Cytogenetics and cell genetics.

[9]  N. Morton,et al.  A metric map of humans: 23,500 loci in 850 bands. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[10]  J. Böök,et al.  Meiosis in the Human Male , 1964 .

[11]  R H Borts,et al.  Mlh1 is unique among mismatch repair proteins in its ability to promote crossing-over during meiosis. , 1997, Genes & development.

[12]  P. Holm,et al.  Human meiosis VI. Crossing over in human spermatocytes , 1983 .

[13]  C. Yuncken.  Meiosis in the human female. , 1968, Cytogenetics.

[14]  C. Heyting,et al.  The gene encoding a major component of the lateral elements of synaptonemal complexes of the rat is related to X-linked lymphocyte-regulated genes , 1994, Molecular and cellular biology.

[15]  D. Laurie,et al.  Further studies on bivalent chiasma frequency in human males with normal karyotypes , 1985, Annals of human genetics.

[16]  E. Feingold,et al.  Estimating meiotic exchange patterns from recombination data: an application to humans. , 1997, Genetics.

[17]  J. Sybenga.  Recombination and chiasmata: few but intriguing discrepancies. , 1996, Genome.

[18]  M. Bojko.  Human meiosis IX. Crossing over and chiasma formation in oocytes , 1985 .

[19]  M Hultén,et al.  Low chiasma count and other meiotic irregularities in two infertile 46, XY men with spermatogenic arrest. , 2009, Hereditas.

[20]  M. Hultén,et al.  Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16. , 1983, Journal of medical genetics.

[21]  P. Ross-Macdonald,et al.  Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction , 1994, Cell.

[22]  A. T. Carpenter.  Electron microscopy of meiosis in Drosophila melanogaster females: II. The recombination nodule--a recombination-associated structure at pachytene? , 1975, Proceedings of the National Academy of Sciences of the United States of America.

[23]  R. Padmore,et al.  Temporal comparison of recombination and synaptonemal complex formation during meiosis in S. cerevisiae , 1991, Cell.

[24]  M. Hultén,et al.  Sequential immunocytogenetics, molecular cytogenetics and transmission electron microscopy of microspread meiosis I oocytes from a human fetal carrier of an unbalanced translocation , 1997, Chromosoma.

[25]  R. Pearlman,et al.  In situ DNA sequence mapping with surface-spread mouse pachytene chromosomes. , 1990, Cytogenetics and cell genetics.

[26]  D. Shibata,et al.  DNA mismatch repair in mammals: role in disease and meiosis. , 1997, Current opinion in genetics & development.

[27]  M. Hultén,et al.  Combined immunocytogenetic and molecular cytogenetic analysis of meiosis I oocytes from normal human females , 1998, Zygote.

[28]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[29]  M. Daly,et al.  A genetic linkage map of the human genome , 1987, Cell.

[30]  A. Chandley,et al.  Meiotic and radiation studies in four oligochiasmatic men. , 1979, Journal of medical genetics.

[31]  S. W. Rasmussen,et al.  The synaptonemal complex in genetic segregation. , 1984, Annual review of genetics.

[32]  G M Lathrop,et al.  A primary genetic linkage map for human chromosome 12. , 1987, Genomics.

[33]  R. Hawley,et al.  Yeast genetics and the fall of the classical view of meiosis , 1993, Cell.

[34]  M. Hultén,et al.  The use and limitations of chiasma scoring with reference to human genetic mapping. , 1978, Cytogenetics and cell genetics.

[35]  A. T. Carpenter.  Synaptonemal complex and recombination nodules in wild-type Drosophila melanogaster females. , 1979, Genetics.

[36]  D. Laurie,et al.  Chiasma frequency and distribution in a sample of human males: chromosomes 1, 2, and 9. , 1981, Cytogenetics and cell genetics.

[37]  A. Weinstein,et al.  The Theory of Multiple-Strand Crossing over. , 1936, Genetics.

[38]  N. Kleckner,et al.  Meiosis: how could it work? , 1996, Proceedings of the National Academy of Sciences of the United States of America.