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Meiotic prophase arrest with failure of chromosome synapsis in mice deficient for Dmc1, a germline-specific RecA homolog.
DMC1 is a meiosis-specific gene first discovered in yeast that encodes a protein with homology to RecA and may be component of recombination nodules. Yeast dmc1 mutants are defective in crossing overExpand
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A Mouse Speciation Gene Encodes a Meiotic Histone H3 Methyltransferase
Speciation genes restrict gene flow between the incipient species and related taxa. Three decades ago, we mapped a mammalian speciation gene, hybrid sterility 1 (Hst1), in the intersubspecificExpand
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An ancient transcription factor initiates the burst of piRNA production during early meiosis in mouse testes.
Animal germ cells produce PIWI-interacting RNAs (piRNAs), small silencing RNAs that suppress transposons and enable gamete maturation. Mammalian transposon-silencing piRNAs accumulate early inExpand
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Regulating RNA polymerase pausing and transcription elongation in embryonic stem cells.
Transitions between pluripotent stem cells and differentiated cells are executed by key transcription regulators. Comparative measurements of RNA polymerase distribution over the genome's primaryExpand
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Positional cloning and characterization of mouse mei8, a disrupted allele of the meiotic cohesin Rec8
A novel mutation, mei8, was isolated in a forward genetic screen for infertility mutations induced by chemical mutagenesis of ES cells. Homozygous mutant mice are sterile. Mutant females exhibitExpand
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Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis ofExpand
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Genetics of mammalian meiosis: regulation, dynamics and impact on fertility
Meiosis is an essential stage in gamete formation in all sexually reproducing organisms. Studies of mutations in model organisms and of human haplotype patterns are leading to a clearer understandingExpand
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Mouse Pachytene Checkpoint 2 (Trip13) Is Required for Completing Meiotic Recombination but Not Synapsis
In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We reportExpand
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A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice
Mcm4 (minichromosome maintenance–deficient 4 homolog) encodes a subunit of the MCM2-7 complex (also known as MCM2–MCM7), the replication licensing factor and presumptive replicative helicase. Here,Expand
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Reversal of Female Infertility by Chk2 Ablation Reveals the Oocyte DNA Damage Checkpoint Pathway
Eggs Well Done Germ cells can endure extensive DNA damage during their development. Programmed meiotic double-strand breaks (DSBs) are essential for proper segregation of chromosomes to oocytes andExpand
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