Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning

Journal Article · Wed Jul 01 00:00:00 EDT 1987 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.84.13.4413· OSTI ID:5271954

Takahashi, N; Takahashi, Y; Blumberg, B S; Putnam, F W

The structural changes in four genetic variants of human serum albumin were analyzed by tandem high-pressure liquid chromatography (HPLC) of the tryptic peptides, HPLC mapping and isoelectric focusing of the CNBr fragments, and amino acid sequence analysis of the purified peptides. Lysine-372 of normal (common) albumin A was changed to glutamic acid both in albumin Naskapi, a widespread polymorphic variant of North American Indians, and in albumin Mersin found in Eti Turks. The two variants also exhibited anomalous migration in NaDodSO/sub 4//PAGE, which is attributed to a conformational change. The identity of albumins Naskapi and Mersin may have originated through descent from a common mid-Asiatic founder of the two migrating ethnic groups, or it may represent identical but independent mutations of the albumin gene. In albumin Adana, from Eti Turks, the substitution site was not identified but was localized to the region from positions 447 through 548. The substitution of aspartic acid-550 by glycine was found in albumin Mexico-2 from four individuals of the Pima tribe. Although only single-point substitutions have been found in these and in certain other genetic variants of human albumin, five differences exist in the amino acid sequences inferred from cDNA sequences by workers in three other laboratories. However, our results on albumin A and on 14 different genetic variants accord with the amino acid sequence of albumin deduced from the genomic sequence. The apparent amino acid substitutions inferred from comparison of individual cDNA sequences probably reflect artifacts in cloning or in cDNA sequence analysis rather than polymorphism of the coding sections of the albumin gene.

• Research Organization: Indiana Univ., Bloomington, IN (United States)
• OSTI ID: 5271954
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 84:13
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ALBUMINS
AMINO ACID SEQUENCE
BIOLOGICAL EVOLUTION
LIQUID COLUMN CHROMATOGRAPHY
RECOMBINANT DNA
DNA SEQUENCING
ASIA
ASPARTIC ACID
ELECTROPHORESIS
GLYCINE
HUMAN POPULATIONS
MAN
MOLECULAR STRUCTURE
NORTH AMERICA
AMINO ACIDS
ANIMALS
CARBOXYLIC ACIDS
CHROMATOGRAPHY
DNA
MAMMALS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
POPULATIONS
PRIMATES
PROTEINS
SEPARATION PROCESSES
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
550201* - Biochemistry- Tracer Techniques