title: The molecular characterization of an A:T to G:C transition in the Hbb-b1 gene of the murine homologue of hemoglobin Rainier.
abstract: An N-ethyl-N-nitrosourea (ENU)-induced mutation in the Hbb-b1 gene of the mouse hemoglobin-beta complex (Hbb) has been shown to result in a high-oxygen affinity hemoglobin, homologous with hemoglobin Rainier in man (Peters, J., et al., Genetics 110:709, 1985). Substitution of beta 145 tyrosine by cysteine had occurred in both human and mouse forms, probably as the result of a point mutation. Provided that sufficient sequence information is available, point mutations can be directly and rapidly analyzed by allele-specific amplification (ASA), as this technique is sensitive enough to detect single nucleotide differences. We report the use of ASA to detect and characterize the mutation in the murine beta-globin gene, Hbb-b1d-m1, and find that the codon for beta 145 tyrosine (TAC) has been replaced by the codon for cysteine (TGC). Therefore, ENU induced an A:T----G:C transition.
authors.affiliation: MRC Radiobiology Unit, Chilton, Didcot, Oxon, U.K.
authors.forename: J
authors.initials: J
authors.lastname: Jones
authors.forename: J
authors.initials: J
authors.lastname: Peters
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005038:Ethylnitrosourea; D005796:Genes; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D051379:Mice / Q000235:genetics*; D008815:Mice, Inbred Strains / Q000235:genetics; D008817:Mice, Mutant Strains / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D005914:Globins; C046444:hemoglobin Rainier; D005038:Ethylnitrosourea