Chromosome segregation is frequently associated with the expression of recessive mutations in mouse cells.
The genes coding for adenosine kinase (ADK; ATP:adenosine 5'-phosphotransferase, EC 2.7.1.20) and esterase-10 (ES-10; carboxylesterase, carboxylic-ester hydrolase, EC 3.1.1.1) are both located on chromosome 14 in the mouse. The near-diploid mouse cell line CAK is heterozygous for two electrophoretic variants of ES-10. Recessive Adk- mutants of CAK have been isolated and analyzed for Es-10 phenotype and karyotypic abnormalities. Two classes of mutants were found with approximatley equal frequencies: those that remained heterozygous in the expression of Es-10 and those that expressed only one Es-10 allele. Of the mutants that lacked one form of ES-10, approximately half were missing most or all of one copy of chromosome 14; the other contained two copies of 14, frequently in the form of an isochromosome. There were no abnormalities of this chromosome found among the mutants that were Es-10 heterozygotes. These results suggest that the expression of an autosomal recessive mutation in near-diploid mouse cells is frequently associated with events that result in the segregation of a physically linked marker and part or all of a chromosome.
D000248:Adenosine Kinase / Q000235:genetics; D000818:Animals; D002265:Carboxylic Ester Hydrolases / Q000235:genetics; D002460:Cell Line; D002871:Chromosome Banding; D002875:Chromosomes / Q000502:physiology*; D006224:Cricetinae; D005808:Genes, Recessive; D006579:Heterozygote; D006822:Hybrid Cells / Q000502:physiology; D007621:Karyotyping; D051379:Mice; D009154:Mutation
D000248:Adenosine Kinase; D002265:Carboxylic Ester Hydrolases