Skip to main content
PMC home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1991 Nov 1;88(21):9853–9857. doi: 10.1073/pnas.88.21.9853

Genetic variants of serum albumin in Americans and Japanese.

J Madison 1, K Arai 1, Y Sakamoto 1, R D Feld 1, R A Kyle 1, S Watkins 1, E Davis 1, Y Matsuda 1, I Amaki 1, F W Putnam 1
PMCID: PMC52819  PMID: 1946412

Abstract

A collaborative search for albumin genetic variants (alloalbumins) was undertaken by cellulose acetate and agarose electrophoresis at pH 8.6 of the sera of patients at two major medical centers in the United States and of nearly 20,000 blood donors in Japan. Seventeen instances of alloalbuminemia were ascertained, and seven different alloalbumin types were characterized by structural study. Two previously unreported alloalbumin types were identified. In one type, which was present in a Caucasian family and designated Iowa City-1, aspartic acid at position 365 was replaced by valine (365 Asp----Val); this is the second reported mutation at this position. The other type present in a Japanese blood donor had the mutation 128 His----Arg. An unexpected finding was the presence in a single Japanese of a Naskapi-type alloalbumin (372 Lys----Glu), a variant that had previously been described only for certain Amerindian tribes in whom it occurs with a polymorphic frequency (greater than 1%) and in Eti Turks. An arginyl-albumin (-1 Arg, 1 Asp----Val) occurred in an American family. The other alloalbumin types identified were proalbumins Lille and Christchurch and albumin B that have a cumulative frequency of about 1:3500 in Caucasians probably because of the hypermutability of CpG dinucleotides at the mutated sites. All of the variants characterized in this study are point mutants, and the sites are spread throughout the albumin gene. However, about one-fourth of all known albumin mutations are clustered in the sequence segment from position 354 through 382.

Full text

PDF
9853

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abdo Y., Rousseaux J., Dautrevaux M. Proalbumin Lille, a new variant of human serum albumin. FEBS Lett. 1981 Aug 31;131(2):286–288. doi: 10.1016/0014-5793(81)80386-9. [DOI] [PubMed] [Google Scholar]
  2. Arai K., Huss K., Madison J., Putnam F. W., Salzano F. M., Franco M. H., Santos S. E., Freitas M. J. Amino acid substitutions in albumin variants found in Brazil. Proc Natl Acad Sci U S A. 1989 Mar;86(6):1821–1825. doi: 10.1073/pnas.86.6.1821. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Arai K., Ishioka N., Huss K., Madison J., Putnam F. W. Identical structural changes in inherited albumin variants from different populations. Proc Natl Acad Sci U S A. 1989 Jan;86(2):434–438. doi: 10.1073/pnas.86.2.434. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Arai K., Madison J., Huss K., Ishioka N., Satoh C., Fujita M., Neel J. V., Sakurabayashi I., Putnam F. W. Point substitutions in Japanese alloalbumins. Proc Natl Acad Sci U S A. 1989 Aug;86(16):6092–6096. doi: 10.1073/pnas.86.16.6092. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Arai K., Madison J., Shimizu A., Putnam F. W. Point substitutions in albumin genetic variants from Asia. Proc Natl Acad Sci U S A. 1990 Jan;87(1):497–501. doi: 10.1073/pnas.87.1.497. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Brennan S. O., Arai K., Madison J., Laurell C. B., Galliano M., Watkins S., Peach R., Myles T., George P., Putnam F. W. Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene. Proc Natl Acad Sci U S A. 1990 May;87(10):3909–3913. doi: 10.1073/pnas.87.10.3909. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Brennan S. O., Carrell R. W. Functional abnormality of proalbumin Christchurch. Biochim Biophys Acta. 1980 Jan 24;621(1):83–88. doi: 10.1016/0005-2795(80)90064-1. [DOI] [PubMed] [Google Scholar]
  8. Brennan S. O., Myles T., Peach R. J., Donaldson D., George P. M. Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site. Proc Natl Acad Sci U S A. 1990 Jan;87(1):26–30. doi: 10.1073/pnas.87.1.26. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Brennan S. O. Propeptide cleavage: evidence from human proalbumins. Mol Biol Med. 1989 Feb;6(1):87–92. [PubMed] [Google Scholar]
  10. Brennan S. O. The molecular abnormality of albumin Parklands: 365 Asp----His. Biochim Biophys Acta. 1985 Aug 23;830(3):320–324. doi: 10.1016/0167-4838(85)90289-4. [DOI] [PubMed] [Google Scholar]
  11. Carter D. C., He X. M. Structure of human serum albumin. Science. 1990 Jul 20;249(4966):302–303. doi: 10.1126/science.2374930. [DOI] [PubMed] [Google Scholar]
  12. Fine J. M., Marneux M., Rochu D. Human albumin genetic variants: an attempt at a classification of European allotypes. Am J Hum Genet. 1987 Mar;40(3):278–286. [PMC free article] [PubMed] [Google Scholar]
  13. Galliano M., Minchiotti L., Porta F., Rossi A., Ferri G., Madison J., Watkins S., Putnam F. W. Mutations in genetic variants of human serum albumin found in Italy. Proc Natl Acad Sci U S A. 1990 Nov;87(22):8721–8725. doi: 10.1073/pnas.87.22.8721. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Galliano M., Minchiotti L., Stoppini M., Tàrnoky A. L. A new proalbumin variant: albumin Jaffna (-1 Arg----Leu). FEBS Lett. 1989 Sep 25;255(2):295–299. doi: 10.1016/0014-5793(89)81109-3. [DOI] [PubMed] [Google Scholar]
  15. Huss K., Madison J., Ishioka N., Takahashi N., Arai K., Putnam F. W. The same substitution, glutamic acid----lysine at position 501, occurs in three alloalbumins of Asiatic origin: albumins Vancouver, Birmingham, and Adana. Proc Natl Acad Sci U S A. 1988 Sep;85(18):6692–6696. doi: 10.1073/pnas.85.18.6692. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Huss K., Putnam F. W., Takahashi N., Takahashi Y., Weaver G. A., Peters T., Jr Albumin Cooperstown: a serum albumin variant with the same (313 Lys----Asn) mutation found in albumins in Italy and New Zealand. Clin Chem. 1988 Jan;34(1):183–187. [PubMed] [Google Scholar]
  17. Minghetti P. P., Ruffner D. E., Kuang W. J., Dennison O. E., Hawkins J. W., Beattie W. G., Dugaiczyk A. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem. 1986 May 25;261(15):6747–6757. [PubMed] [Google Scholar]
  18. Neel J. V., Satoh C., Goriki K., Asakawa J., Fujita M., Takahashi N., Kageoka T., Hazama R. Search for mutations altering protein charge and/or function in children of atomic bomb survivors: final report. Am J Hum Genet. 1988 May;42(5):663–676. [PMC free article] [PubMed] [Google Scholar]
  19. Peters T., Jr Serum albumin. Adv Protein Chem. 1985;37:161–245. doi: 10.1016/s0065-3233(08)60065-0. [DOI] [PubMed] [Google Scholar]
  20. Takahashi N., Takahashi Y., Blumberg B. S., Putnam F. W. Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning. Proc Natl Acad Sci U S A. 1987 Jul;84(13):4413–4417. doi: 10.1073/pnas.84.13.4413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Takahashi N., Takahashi Y., Isobe T., Putnam F. W., Fujita M., Satoh C., Neel J. V. Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations. Proc Natl Acad Sci U S A. 1987 Nov;84(22):8001–8005. doi: 10.1073/pnas.84.22.8001. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Takahashi N., Takahashi Y., Putnam F. W. Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7403–7407. doi: 10.1073/pnas.84.21.7403. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Tárnoky A. L. Genetic and drug-induced variation in serum albumin. Adv Clin Chem. 1980;21:101–146. doi: 10.1016/s0065-2423(08)60087-6. [DOI] [PubMed] [Google Scholar]
  24. Watkins S., Madison J., Davis E., Sakamoto Y., Galliano M., Minchiotti L., Putnam F. W. A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin. Proc Natl Acad Sci U S A. 1991 Jul 15;88(14):5959–5963. doi: 10.1073/pnas.88.14.5959. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Weitkamp L. R., McDermid E. M., Neel J. V., Fine J. M., Petrini C., Bonazzi L., Ortali V., Porta F., Tanis R., Harris D. J. Additional data on the population distribution of human serum albumin genes; three new variants. Ann Hum Genet. 1973 Oct;37(2):219–226. doi: 10.1111/j.1469-1809.1973.tb01829.x. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES