A MOUSE β-GLOBIN MUTANT THAT IS AN EXACT MODEL OF HEMOGLOBIN RAINIER IN MAN
Open Access
- 1 August 1985
- journal article
- research article
- Published by Oxford University Press (OUP) in Genetics
- Vol. 110 (4) , 709-721
- https://doi.org/10.1093/genetics/110.4.709
Abstract
A mutation induced by ethylnitrosourea in a spermatogonial stem cell of a 101/H mouse has resulted in a structurally altered β-diffuse major globin in one of his offspring. The mutant hemoglobin is associated with polycythemia, rubor, increased oxygen affinity and decreased hem-hem interaction. The mutant haplotype has been designated Hbbd 4, polycythemia. Amino acid analysis of the mutant globin has shown that a single substitution β145 Tyr → Cys has occurred, and it is proposed that ethylnitrosourea induced an A → G transition in the tyrosine codon (TAC → TGC). This murine polycythemia is homologous with hemoglobin Rainier in man, in which the amino acid substitution is also β145 Tyr → Cys and which is associated with similar physiological consequences.Keywords
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