title: Positional cloning and characterization of mouse mei8, a disrupted allelle of the meiotic cohesin Rec8.
abstract: 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 exhibit ovarian dysgenesis and lack ovarian follicles at reproductive maturity. Affected males have small testes due to arrest of spermatogenesis during meiotic prophase I. Genetic mapping and positional cloning of mei8 led to the identification of a mutation in Rec8, a homolog of the yeast meiosis-specific cohesin gene REC8. Analysis of meiosis in Rec8(mei8)/Rec8(mei8) spermatocytes showed that, while initiation of recombination and synapsis occurs, REC8 is required for the completion and/or maintenance of synapsis, cohesion of sister chromatids, and the formation of chiasmata, as it is in other organisms. However, unlike yeast and Caenorhabditis elegans, localization of REC8 on meiotic chromosomes is not required for the assembly of axial elements.
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Laura A
authors.initials: LA
authors.lastname: Bannister
authors.forename: Laura G
authors.initials: LG
authors.lastname: Reinholdt
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Munroe
authors.forename: John C
authors.initials: JC
authors.lastname: Schimenti
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins; D023902:Chromosome Pairing; D002875:Chromosomes / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D007246:Infertility / Q000235:genetics*; D008297:Male; D049469:Meiotic Prophase I / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D009687:Nuclear Proteins / Q000037:antagonists & inhibitors / Q000235:genetics*; D009866:Oogenesis; D006080:Ovarian Follicle / Q000166:cytology / Q000378:metabolism; D010750:Phosphoproteins / Q000037:antagonists & inhibitors / Q000235:genetics*; D011995:Recombination, Genetic / Q000235:genetics*; D012098:Reproduction / Q000502:physiology; D012854:Sister Chromatid Exchange / Q000235:genetics; D013091:Spermatogenesis; D013737:Testis / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D009687:Nuclear Proteins; D010750:Phosphoproteins; C465863:Rec8 protein, mouse