scholarly journals Meiotic recombination hot spots and human DNA diversity

2004 ◽  
Vol 359 (1441) ◽  
pp. 141-152 ◽  
Author(s):  
Alec J. Jeffreys ◽  
J. Kim Holloway ◽  
Liisa Kauppi ◽  
Celia A. May ◽  
Rita Neumann ◽  
...  

Meiotic recombination plays a key role in the maintenance of sequence diversity in the human genome. However, little is known about the fine–scale distribution and processes of recombination in human chromosomes, or how these impact on patterns of human diversity. We have therefore developed sperm typing systems that allow human recombination to be analysed at very high resolution. The emerging picture is that human crossovers are far from randomly distributed but instead are targeted into very narrow hot spots that can profoundly influence patterns of haplotype diversity in the human genome. These hot spots provide fundamental information on processes of human crossover and gene conversion, as well as evidence that they can violate basic rules of Mendelian inheritance.

2007 ◽  
Vol 27 (20) ◽  
pp. 7053-7062 ◽  
Author(s):  
Philippe R. J. Bois

ABSTRACT The recent mapping of recombination hot spots in the human genome has demonstrated that crossover is a nonrandom process that occurs at well-defined positions along chromosomes. However, the mechanisms that direct hot-spot turnover in complex mammalian genomes are poorly understood. Analyses of the human genome are impaired by the inability to genetically dissect and molecularly manipulate recombinogenic regions to test their roles in regulating hot spots. Here, using the BXD recombinant inbred strains as a crossover library, three new recombination hot spots have been identified on mouse chromosome 19. Analyses of a highly polymorphic recombination hot spot (HS22) revealed that approximately 4% of recombinant molecules display complex and incomplete repair with discontinuous conversion tracts, as well as persistent heteroduplex DNA at crossover sites in mature spermatozoa. Also, sequence analysis of the wild house mouse revealed instability at the center of this hot spot. This suggests that complete repair is not required for completion of mammalian meiosis, a scenario that leaves duplex DNA containing mismatches at crossover sites.


1994 ◽  
Vol 7 (3) ◽  
pp. 420-424 ◽  
Author(s):  
Rene Hubert ◽  
Marcy MacDonald ◽  
James Gusella ◽  
Norman Arnheim

mBio ◽  
2017 ◽  
Vol 8 (6) ◽  
Author(s):  
Ke Zhang ◽  
Xue-Chang Wu ◽  
Dao-Qiong Zheng ◽  
Thomas D. Petes

ABSTRACT Although meiosis in warm-blooded organisms takes place in a narrow temperature range, meiosis in many organisms occurs over a wide variety of temperatures. We analyzed the properties of meiosis in the yeast Saccharomyces cerevisiae in cells sporulated at 14°C, 30°C, or 37°C. Using comparative-genomic-hybridization microarrays, we examined the distribution of Spo11-generated meiosis-specific double-stranded DNA breaks throughout the genome. Although there were between 300 and 400 regions of the genome with high levels of recombination (hot spots) observed at each temperature, only about 20% of these hot spots were found to have occurred independently of the temperature. In S. cerevisiae , regions near the telomeres and centromeres tend to have low levels of meiotic recombination. This tendency was observed in cells sporulated at 14°C and 30°C, but not at 37°C. Thus, the temperature of sporulation in yeast affects some global property of chromosome structure relevant to meiotic recombination. Using single-nucleotide polymorphism (SNP)-specific whole-genome microarrays, we also examined crossovers and their associated gene conversion events as well as gene conversion events that were unassociated with crossovers in all four spores of tetrads obtained by sporulation of diploids at 14°C, 30°C, or 37°C. Although tetrads from cells sporulated at 30°C had slightly (20%) more crossovers than those derived from cells sporulated at the other two temperatures, spore viability was good at all three temperatures. Thus, despite temperature-induced variation in the genetic maps, yeast cells produce viable haploid products at a wide variety of sporulation temperatures. IMPORTANCE In the yeast Saccharomyces cerevisiae , recombination is usually studied in cells that undergo meiosis at 25°C or 30°C. In a genome-wide analysis, we showed that the locations of genomic regions with high and low levels of meiotic recombination (hot spots and cold spots, respectively) differed dramatically in cells sporulated at 14°C, 30°C, and 37°C. Thus, in yeast, and likely in other non-warm-blooded organisms, genetic maps are strongly affected by the environment.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Xiaohua Wang ◽  
Ping Xu ◽  
Yan Ren ◽  
Liang Yin ◽  
Shuangling Li ◽  
...  

BioEssays ◽  
2005 ◽  
Vol 28 (1) ◽  
pp. 45-56 ◽  
Author(s):  
K.T. Nishant ◽  
M.R.S. Rao

2007 ◽  
Vol 41 (1) ◽  
pp. 369-399 ◽  
Author(s):  
Norman Arnheim ◽  
Peter Calabrese ◽  
Irene Tiemann-Boege

2016 ◽  
Vol 37 (3) ◽  
Author(s):  
Irina V. Getun ◽  
Zhen Wu ◽  
Mohammad Fallahi ◽  
Souad Ouizem ◽  
Qin Liu ◽  
...  

ABSTRACT Meiotic recombination initiates following the formation of DNA double-strand breaks (DSBs) by the Spo11 endonuclease early in prophase I, at discrete regions in the genome coined “hot spots.” In mammals, meiotic DSB site selection is directed in part by sequence-specific binding of PRDM9, a polymorphic histone H3 (H3K4Me3) methyltransferase. However, other chromatin features needed for meiotic hot spot specification are largely unknown. Here we show that the recombinogenic cores of active hot spots in mice harbor several histone H3 and H4 acetylation and methylation marks that are typical of open, active chromatin. Further, deposition of these open chromatin-associated histone marks is dynamic and is manifest at spermatogonia and/or pre-leptotene-stage cells, which facilitates PRDM9 binding and access for Spo11 to direct the formation of DSBs, which are initiated at the leptotene stage. Importantly, manipulating histone acetylase and deacetylase activities established that histone acetylation marks are necessary for both hot spot activity and crossover resolution. We conclude that there are functional roles for histone acetylation marks at mammalian meiotic recombination hot spots.


2008 ◽  
Vol 25 (12) ◽  
pp. 2579-2587 ◽  
Author(s):  
M. Brandstrom ◽  
A. T. Bagshaw ◽  
N. J. Gemmell ◽  
H. Ellegren

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