Faculty Research 1990 - 1999


The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.

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Anemia-Hemolytic: bl, ge, Animal, Animals-Newborn, Arginine, Base-Sequence, Brain: me, Chromosome-Mapping, Cloning-Molecular, Codon, Crosses-Genetic, DNA-Primers, Heterozygote, Homozygote, Jaundice: ge, Mice, Mice-Inbred-C57BL, Mice-Inbred-Strains, Mice-Mutant-Strains, Molecular-Sequence-Data, Phenotype, Point-Mutation, Polymerase-Chain-Reaction: mt, Repetitive-Sequences-Nucleic-Acid, Reticulocytes: me, RNA-Messenger: bi, Spectrin: ge, SUPPORT-U-S-GOVT-P-H-S, Transcription-Genetic

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Proc Natl Acad Sci U S A 1994 Oct 11;91(21):10099-103




The jaundiced, ja/ja, mouse mutant has a severe hemolytic anemia associated with a deficiency of beta-spectrin in erythrocyte ghosts. Genes for the disease phenotype and beta-spectrin colocalize on Chromosome 12. beta-Spectrin mRNA is not detected in reticulocytes or in brain from newborn mutant mice. To locate the nucleotide sequence alteration, the erythroid beta-spectrin transcript from mutant spleen was amplified by reverse transcription PCR and sequenced. A C-to-T alteration is present in the mutant transcript and produces a premature stop codon from an arginine codon in mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160. The point mutation introduces a Dde I site that is present in PCR-amplified DNA of ja/ja and ja/+ mice but not of +/+ control mice from the strain of origin, 129/Sv, or from the two strains, WB/Re and C57BL/6J, in which the mutation has been fixed by over 53 generations of backcrossing. The genetic data confirm that the point mutation is responsible for the severe reductions in beta-spectrin mRNA of jaundiced mice.

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