A MOUSE BETA-GLOBIN MUTANT THAT IS AN EXACT MODEL OF HEMOGLOBIN RAINIER IN MAN

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  • 1 January 1985
    • journal article
    • research article
    • Vol. 110  (4) , 709-721
Abstract
A mutation induced by ethylnitrosourea in a spermatogonial stem cell of a 101/H mouse has resulted in a structurally altered .beta.-diffuse major globin in one of his offspring. The mutant Hb is associated with polycythemia, rubor, increased O2 afffinity and decreased heme-heme interaction. The mutant haplotype was designated Hbbd4, polycythemia. Amino acid analysis of the mutant globin shows that a single substitution .beta.145 Tyr .fwdarw. Cys occurred, and perhaps ethylnitrosourea induced an A .fwdarw. G transition in the Tyr codon (TAC .fwdarw. TGC). This murine polycythemia is homologous with Hb Rainier in man, in which the amino acid substitution is also .beta.145 Tyr .fwdarw. Cys and which is associated with similar physiological consequences.