Analysis Tools
reproductive system
azoospermia
(
J:296124
)
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• complete azoospermia, as determined by sperm count in paired epididymides
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• complete absence of MLH1 foci marking recombination crossover sites
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• many chromosomes are asynapsed marked by gamma-H2AX and HORMAD2, and the XY body is absent in (pseudo)pachytene cells
• >98% of pachytene cells fail to properly synapse at least one pair of chromosomes
• only 24.8% of (pseudo)pachytene cells show mispairing of non-homologous chromosomes in a branched structure ('tangled'), while 74.5% of cells contain multiple bundles of HORMAD2+ asynapsed chromosomes that resemble the XY body and may merge with the sex chromosomes ('multibodies')
• many unrepaired DMC1 foci persist on asynapsed chromosomes
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• no meiotic progression is observed beyond (pseudo)pachytene with wide-spread asynapsed chromosomes, failure to form the sex body, a complete absence of MLH1 foci marking recombination crossover sites, and persistent DMC1 foci marking unrepaired DSBs
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small testis
(
J:296124
)
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• reduced testis size at 9-10 weeks of age
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• reduced paired testes weight at 9-10 weeks of age
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• female mice are initially fertile but lose fertility by ~7-8 months of age
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• male mice are sterile
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cellular
azoospermia
(
J:296124
)
|
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• complete azoospermia, as determined by sperm count in paired epididymides
|
|
|
• complete absence of MLH1 foci marking recombination crossover sites
|
|
|
• many chromosomes are asynapsed marked by gamma-H2AX and HORMAD2, and the XY body is absent in (pseudo)pachytene cells
• >98% of pachytene cells fail to properly synapse at least one pair of chromosomes
• only 24.8% of (pseudo)pachytene cells show mispairing of non-homologous chromosomes in a branched structure ('tangled'), while 74.5% of cells contain multiple bundles of HORMAD2+ asynapsed chromosomes that resemble the XY body and may merge with the sex chromosomes ('multibodies')
• many unrepaired DMC1 foci persist on asynapsed chromosomes
|
|
|
• no meiotic progression is observed beyond (pseudo)pachytene with wide-spread asynapsed chromosomes, failure to form the sex body, a complete absence of MLH1 foci marking recombination crossover sites, and persistent DMC1 foci marking unrepaired DSBs
|
|
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• increased number of DMC1 foci marking unrepaired double-strand breaks (DSBs) in early, mid and late zygotene cells and late (pseudo)-pachytene cells
• increased DMC1 foci count from zygotene onwards indicates delayed repair of DSBs
• increased number of RAD51 foci in (pseudo)-pachytene cells
• increased number of RPA2 foci in mid and late zygotene cells and late (pseudo)-pachytene cells
• DMC1 dynamics are altered, with signals at autosomal hotspots resembling those on the X-chromosome
• however, positioning of DSBs at PRDM9-bound sites is normal
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endocrine/exocrine glands
small testis
(
J:296124
)
|
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• reduced testis size at 9-10 weeks of age
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• reduced paired testes weight at 9-10 weeks of age
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homeostasis/metabolism
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• increased number of DMC1 foci marking unrepaired double-strand breaks (DSBs) in early, mid and late zygotene cells and late (pseudo)-pachytene cells
• increased DMC1 foci count from zygotene onwards indicates delayed repair of DSBs
• increased number of RAD51 foci in (pseudo)-pachytene cells
• increased number of RPA2 foci in mid and late zygotene cells and late (pseudo)-pachytene cells
• DMC1 dynamics are altered, with signals at autosomal hotspots resembling those on the X-chromosome
• however, positioning of DSBs at PRDM9-bound sites is normal
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