The hotspot conversion paradox and the evolution of meiotic recombination.

Studies of meiotic recombination have revealed an evolutionary paradox. Molecular and genetic analysis has shown that crossing over initiates at specific sites called hotspots, by a recombinational-repair mechanism in which the initiating hotspot is replaced by a copy of its homolog. We have used computer simulations of large populations to show that this mechanism causes active hotspot alleles to be rapidly replaced by inactive alleles, which arise by rare mutation and increase by recombination-associated conversion. Additional simulations solidified the paradox by showing that the known benefits of recombination appear inadequate to maintain its mechanism. Neither the benefits of accurate segregation nor those of recombining flanking genes were sufficient to preserve active alleles in the face of conversion. A partial resolution to this paradox was obtained by introducing into the model an additional, nonmeiotic function for the sites that initiate recombination, consistent with the observed association of hotspots with functional sites in chromatin. Provided selection for this function was sufficiently strong, active hotspots were able to persist in spite of frequent conversion to inactive alleles. However, this explanation is unsatisfactory for two reasons. First, it is unlikely to apply to obligately sexual species, because observed crossover frequencies imply maintenance of many hotspots per genome, and the viability selection needed to preserve these would drive the species to extinction. Second, it fails to explain why such a genetically costly mechanism of recombination has been maintained over evolutionary time. Thus the paradox persists and is likely to be resolved only by significant changes to the commonly accepted mechanism of crossing over.

[1]  D. Catcheside Occurrence in wild strains of Neurospora crassa of genes controlling genetic recombination. , 1975, Australian journal of biological sciences.

[2]  M Lichten,et al.  Meiosis-induced double-strand break sites determined by yeast chromatin structure. , 1994, Science.

[3]  W. Hamilton,et al.  Sex against virulence: the coevolution of parasitic diseases. , 1996, Trends in ecology & evolution.

[4]  D. Catcheside Control of recombination within the nitrate-2 locus of Neurospora crassa: an unlinked dominant gene which reduces prototroph yields. , 1970, Australian journal of biological sciences.

[5]  T. Petes,et al.  Transcription factors are required for the meiotic recombination hotspot at the HIS4 locus in Saccharomyces cerevisiae. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[6]  M. Lichten,et al.  Factors that affect the location and frequency of meiosis-induced double-strand breaks in Saccharomyces cerevisiae. , 1995, Genetics.

[7]  Jack W. Szostak,et al.  The double-strand-break repair model for recombination , 1983, Cell.

[8]  A. Murray,et al.  Chromosome segregation in mitosis and meiosis. , 1985, Annual review of cell biology.

[9]  F B Christiansen,et al.  Evolution of recombination in a constant environment. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[10]  N. Kleckner,et al.  Identification of double holliday junctions as intermediates in meiotic recombination , 1995, Cell.

[11]  D. Page,et al.  XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. , 1991, American journal of human genetics.

[12]  P. Munz,et al.  The strong ADH1 promoter stimulates mitotic and meiotic recombination at the ADE6 gene of Schizosaccharomyces pombe , 1991, Molecular and cellular biology.

[13]  H. Scherthan,et al.  Physical association between nonhomologous chromosomes precedes distributive disjunction in yeast. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[14]  A. Griffiths Introduction to Genetic Analysis , 1976 .

[15]  J. Szostak,et al.  Decreasing gradients of gene conversion on both sides of the initiation site for meiotic recombination at the ARG4 locus in yeast. , 1990, Genetics.

[16]  L. Eguiarte Principles of population genetics: by D. L. Hard and A. G. Clark, Sinauer Associates Inc. Publishers, Sunderland, MA, 1997. $58.95 (casebound), xiii + 542 pp. ISBN 0-87893-306-9 , 1998 .

[17]  H. Muller THE RELATION OF RECOMBINATION TO MUTATIONAL ADVANCE. , 1964, Mutation research.

[18]  L. Symington,et al.  Stimulation of meiotic recombination in yeast by an ARS element. , 1993, Genetics.

[19]  A. Datta,et al.  Association of increased spontaneous mutation rates with high levels of transcription in yeast. , 1995, Science.

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

[21]  B. McKee Meiotic recombination: a mechanism for tracking and eliminating mutations? , 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.

[22]  E. Foss,et al.  Chiasma interference as a function of genetic distance. , 1993, Genetics.

[23]  R. Hawley,et al.  Meiotic segregation in Drosophila melanogaster females: molecules, mechanisms, and myths. , 1993, Annual review of genetics.

[24]  A. Sherman,et al.  A short chromosomal region with major roles in yeast chromosome III meiotic disjunction, recombination and double strand breaks. , 1993, Genetics.

[25]  V. Chandler,et al.  Sequences required for paramutation of the maize b gene map to a region containing the promoter and upstream sequences. , 1995, Genetics.

[26]  N. Barton,et al.  A general model for the evolution of recombination. , 1995, Genetical research.

[27]  D. Hartl,et al.  Principles of population genetics , 1981 .

[28]  M. Lichten,et al.  Timing of molecular events in meiosis in Saccharomyces cerevisiae: stable heteroduplex DNA is formed late in meiotic prophase , 1993, Molecular and cellular biology.

[29]  M. Yoshino,et al.  Hotspots of homologous recombination in mouse meiosis. , 1995, Advances in biophysics.

[30]  A. Nicolas,et al.  Changes in chromatin structure at recombination initiation sites during yeast meiosis. , 1994, The EMBO journal.

[31]  Nancy Kleckner,et al.  Chromosome pairing via multiple interstitial interactions before and during meiosis in yeast , 1994, Cell.

[32]  E. Lehmann,et al.  Hot spots of recombination in fission yeast: inactivation of the M26 hot spot by deletion of the ade6 promoter and the novel hotspot ura4-aim. , 1995, Genetics.

[33]  A. Nicolas,et al.  An initiation site for meiotic gene conversion in the yeast Saccharomyces cerevisiae , 1989, Nature.

[34]  B. Bainbridge,et al.  Genetics , 1981, Experientia.

[35]  Marianne Rasmuson Mathematical topics in population genetics , 1972 .

[36]  Ken-ichi Kojima,et al.  Mathematical Topics in Population Genetics , 1970 .