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. 1981 Mar;78(3):1768–1772. doi: 10.1073/pnas.78.3.1768

Chromosome segregation is frequently associated with the expression of recessive mutations in mouse cells.

E M Eves, R A Farber
PMCID: PMC319215  PMID: 6940188

Abstract

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.

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Selected References

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