Positional cloning and characterization of mouse mei8, a disrupted allele of the meiotic cohesin Rec8

LA Bannister, LG Reinholdt, RJ Munroe… - genesis, 2004 - Wiley Online Library
LA Bannister, LG Reinholdt, RJ Munroe, JC Schimenti
genesis, 2004Wiley Online Library
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 …
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 Rec8mei8/Rec8mei8 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. genesis 40:184–194, 2004. © 2004 Wiley‐Liss, Inc.
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