The "b" mutated gene in heterozygous Belgrade anemic rat

The Belgrade b/b rat has an autosomal recessive mutation which in homozygous state induces severe anemia. So far, this mutation has been considered a recessive one and the heterozygous animals (+/b) as phenotypically normal. In this study, we showed that at the hematologic level, the heterozygous an...

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Bibliographic Details
Published in:	Experimental hematology Vol. 21; no. 1; p. 21
Main Authors:	Popović, Z B, Rajić, N V, Savković, S D, Glisin, V R
Format:	Journal Article
Language:	English
Published:	Netherlands 01-01-1993
Subjects:	Anemia - blood Anemia - genetics Animals Erythrocyte Count Globins - genetics Heterozygote Nucleic Acid Hybridization Rats Rats, Mutant Strains Rats, Wistar Reticulocytes - metabolism Reticulocytes - pathology RNA, Messenger - blood
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Summary:	The Belgrade b/b rat has an autosomal recessive mutation which in homozygous state induces severe anemia. So far, this mutation has been considered a recessive one and the heterozygous animals (+/b) as phenotypically normal. In this study, we showed that at the hematologic level, the heterozygous animals acquire some of the anemic characteristics as well. Namely, the young +/b animal displays reticulocytosis of 3.1 +/- 1.0%, identical to b/b rat, compared with 0.8 +/- 0.4% in young normal animals. This conclusion was further supported by examination of beta-globin expression. The level of beta-globin mRNA in anemic and heterozygous reticulocytes is decreased, as estimated by dot blot hybridization, to 25% and 50% of normal level, respectively. Although inapparent phenotypically, b mutated allele disturbs early erythropoiesis and markedly decreases globin mRNA level in the heterozygous rat.
ISSN:	0301-472X