Abstract
Karyotypes of recessive mutants at the autosomal adenine phosphoribosyltransferase (Aprt) locus in a clone of the neardiploid mouse CAK cell line have been analyzed. The Aprt gene is located on chromosome 8. One copy of chromosome 8 was morphologically abnormal in the parental clone (CAK-B3-Toyr13) from whichAprt − mutants were isolated. Among 22 mutants, there were ten in which one copy of chromosome 8 had been lost. Four of these were monosomic, and in the others duplication of the remaining homolog had occurred. These findings indicate that newly induced recessive mutations in cultured mammalian cells can be expressed as the result of loss of one chromosome carrying a wild-type allele, with or without duplication of the homolog carrying the mutant allele. Loss and duplication would not be detcted in cell lines lacking morphologically marked chromosomes.
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Eves, E.M., Farber, R.A. Expression of recessiveAprt − mutations in mouse CAK cells resulting from chromosome loss and duplication. Somat Cell Mol Genet 9, 771–778 (1983). https://doi.org/10.1007/BF01539479
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DOI: https://doi.org/10.1007/BF01539479