The human alpha-globin gene. The protein products of the duplicated genes are identical. 1980

J Földi, and M Cohen-Solal, and C Valentin, and Y Blouquit, and S R Hollán, and J Rosa

In order to determine whether any heterogeneity exists in the human alpha-globin chain, i.e. whether the products of the duplicated genes are identical, we have determined the total sequence of 14 alpha-globin chains: seven of these were abnormal, while six were normal chains from the same individuals, with one additional sample which consisted of the alpha chains from a normal control. In the individuals heterozygous for an alpha-chain abnormality, the product of a single alpha-gene could be isolated from that of the three others using the differing physicochemical properties of the mutant haemoglobins. In the special situation of a double heterozygosity for an alpha-chain abnormality, the products of the two mutated genes were separated from each other and from the mixture of the products of the two normal genes. They were then investigated independently, this approach increased the precision of our work. During the course of the present investigation, sequence determinations were mainly performed on large fragments of the chains, which were purified exclusively by gel chromatography. In this way mixtures of products of several genes could be studied, thereby overcoming the risk of losing peptides differing slightly in sequence. Such loss may often occur when using ion-exchange procedures to purify small peptides. Our results show the absence of any heterogeneity at the level of the gene products of the duplicated alpha loci. Thus the human alpha-globin chain has to be considered as homogeneous.

UI MeSH Term Description Entries
D010446 Peptide Fragments Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques. Peptide Fragment,Fragment, Peptide,Fragments, Peptide
D010450 Endopeptidases A subclass of PEPTIDE HYDROLASES that catalyze the internal cleavage of PEPTIDES or PROTEINS. Endopeptidase,Peptide Peptidohydrolases
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D004261 DNA Replication The process by which a DNA molecule is duplicated. Autonomous Replication,Replication, Autonomous,Autonomous Replications,DNA Replications,Replication, DNA,Replications, Autonomous,Replications, DNA
D005796 Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein

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