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. 1984 Sep;36(5):1135–1148.

A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.

J V Neel
PMCID: PMC1684510  PMID: 6093507

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Selected References

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  1. Anderson N. G. Computer interfaced fast analyzers. Science. 1969 Oct 17;166(3903):317–324. doi: 10.1126/science.166.3903.317. [DOI] [PubMed] [Google Scholar]
  2. Aquadro C. F., Avise J. C. An assessment of "hidden" heterogeneity within electromorphs at three enzyme loci in deer mice. Genetics. 1982 Oct;102(2):269–284. doi: 10.1093/genetics/102.2.269. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ayala F. J. Genetic variation in natural populations: problem of electrophoretically cryptic alleles. Proc Natl Acad Sci U S A. 1982 Jan;79(2):550–554. doi: 10.1073/pnas.79.2.550. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bech-Hansen N. T., Linsley P. S., Cox D. W. Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci U S A. 1983 Nov;80(22):6952–6956. doi: 10.1073/pnas.80.22.6952. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bell G. I., Karam J. H., Rutter W. J. Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759–5763. doi: 10.1073/pnas.78.9.5759. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Bell G. I., Selby M. J., Rutter W. J. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature. 1982 Jan 7;295(5844):31–35. doi: 10.1038/295031a0. [DOI] [PubMed] [Google Scholar]
  7. Bernstein S. C., Throckmorton L. H., Hubby J. L. Still more genetic variability in natural populations. Proc Natl Acad Sci U S A. 1973 Dec;70(12):3928–3931. doi: 10.1073/pnas.70.12.3928. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Burtis C. A., Mailen J. C., Johnson W. F., Scott C. D., Tiffany T. O., Anderson N. G. Development of a miniature fast analyzer. Clin Chem. 1972 Aug;18(8):753–761. [PubMed] [Google Scholar]
  9. Cochrane B. J., Richmond R. C. Studies of esterase-6 in Drosophila melanogaster. II. The genetics and frequency distributions of naturally occurring variants studied by electrophoretic and heat stability criteria. Genetics. 1979 Oct;93(2):461–478. doi: 10.1093/genetics/93.2.461. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Comings D. E. Two-dimensional gel electrophoresis of human brain proteins. III. Genetic and non-genetic variations in 145 brains. Clin Chem. 1982 Apr;28(4 Pt 2):798–804. [PubMed] [Google Scholar]
  11. Czelusniak J., Goodman M., Hewett-Emmett D., Weiss M. L., Venta P. J., Tashian R. E. Phylogenetic origins and adaptive evolution of avian and mammalian haemoglobin genes. Nature. 1982 Jul 15;298(5871):297–300. doi: 10.1038/298297a0. [DOI] [PubMed] [Google Scholar]
  12. Ewens W. J., Spielman R. S., Harris H. Estimation of genetic variation at the DNA level from restriction endonuclease data. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3748–3750. doi: 10.1073/pnas.78.6.3748. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Fielek S., Mohrenweiser H. W. Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer. Clin Chem. 1979 Mar;25(3):384–388. [PubMed] [Google Scholar]
  14. Fuerst P. A., Ferrell R. E. The stepwise mutation model: an experimental evaluation utilizing hemoglobin variants. Genetics. 1980 Jan;94(1):185–201. doi: 10.1093/genetics/94.1.185. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Goldman D., Merril C. R. Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis. Am J Hum Genet. 1983 Sep;35(5):827–837. [PMC free article] [PubMed] [Google Scholar]
  16. Hamaguchi H., Ohta A., Mukai R., Yabe T., Yamada M. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 1. Detection of genetic variant polypeptides in PHA-stimulated peripheral blood lymphocytes. Hum Genet. 1981;59(3):215–220. doi: 10.1007/BF00283667. [DOI] [PubMed] [Google Scholar]
  17. Hamaguchi H., Yamada M., Noguchi A., Fujii K., Shibasaki M., Mukai R., Yabe T., Kondo I. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide. Hum Genet. 1982;60(2):176–180. doi: 10.1007/BF00569708. [DOI] [PubMed] [Google Scholar]
  18. Hamaguchi H., Yamada M., Shibasaki M., Mukai R., Yabe T., Kondo I. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes. Hum Genet. 1982;62(2):142–147. doi: 10.1007/BF00282303. [DOI] [PubMed] [Google Scholar]
  19. Jeffreys A. J. DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man. Cell. 1979 Sep;18(1):1–10. doi: 10.1016/0092-8674(79)90348-9. [DOI] [PubMed] [Google Scholar]
  20. Jenkins T., Lane A. B., Nurse G. T., Hopkinson D. A. Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung. Ann Hum Genet. 1979 May;42(4):425–433. doi: 10.1111/j.1469-1809.1979.tb00676.x. [DOI] [PubMed] [Google Scholar]
  21. Johnson G. B. Evaluation of the Stepwise Mutation Model of Electrophoretic Mobility: Comparison of the Gel Sieving Behavior of Alleles at the Esterase-5 Locus of DROSOPHILA PSEUDOOBSCURA. Genetics. 1977 Sep;87(1):139–157. doi: 10.1093/genetics/87.1.139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Johnson G. B. On the estimation of effective number of alleles from electrophoretic data. Genetics. 1974 Oct;78(2):771–776. doi: 10.1093/genetics/78.2.771. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Kazazian H. H., Jr, Orkin S. H., Boehm C. D., Sexton J. P., Antonarakis S. E. beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. Am J Hum Genet. 1983 Sep;35(5):1028–1033. [PMC free article] [PubMed] [Google Scholar]
  24. Klose J. Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissues. A novel approach to testing for induced point mutations in mammals. Humangenetik. 1975;26(3):231–243. doi: 10.1007/BF00281458. [DOI] [PubMed] [Google Scholar]
  25. Klose J., Willers I., Singh S., Goedde H. W. Two-dimensional electrophoresis of soluble and structure-bound proteins from cultured human fibroblasts and hair root cells: qualitative and quantitative variation. Hum Genet. 1983;63(3):262–267. doi: 10.1007/BF00284661. [DOI] [PubMed] [Google Scholar]
  26. Kreitman M. Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster. Nature. 1983 Aug 4;304(5925):412–417. doi: 10.1038/304412a0. [DOI] [PubMed] [Google Scholar]
  27. Lewis W. H. Common polymorphism of peptidase A. Electrohoretic variants associated with quantitative variation of red cell levels. Ann Hum Genet. 1973 Jan;36(3):267–271. doi: 10.1111/j.1469-1809.1973.tb00589.x. [DOI] [PubMed] [Google Scholar]
  28. Marshall D. R., Brown A. H. The charge-state model of protein polymorphism in natural populations. J Mol Evol. 1975 Nov 4;6(3):149–163. doi: 10.1007/BF01732353. [DOI] [PubMed] [Google Scholar]
  29. Merril C. R., Switzer R. C., Van Keuren M. L. Trace polypeptides in cellular extracts and human body fluids detected by two-dimensional electrophoresis and a highly sensitive silver stain. Proc Natl Acad Sci U S A. 1979 Sep;76(9):4335–4339. doi: 10.1073/pnas.76.9.4335. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Mohrenweiser H. W., Fielek S. Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants. Pediatr Res. 1982 Nov;16(11):960–963. doi: 10.1203/00006450-198211000-00012. [DOI] [PubMed] [Google Scholar]
  31. Mohrenweiser H. W. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046–5050. doi: 10.1073/pnas.78.8.5046. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Mohrenweiser H. W., Neel J. V. A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians. Am J Hum Genet. 1984 May;36(3):655–662. [PMC free article] [PubMed] [Google Scholar]
  33. Mohrenweiser H. W., Neel J. V. Frequency of thermostability variants: estimation of total "rare" variant frequency in human populations. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5729–5733. doi: 10.1073/pnas.78.9.5729. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Mohrenweiser H. W., Novotny J. E. An enzymatically inactive variant of human lactate dehydrogenase-LDHBGUA-1. Study of subunit interaction. Biochim Biophys Acta. 1982 Mar 18;702(1):90–98. doi: 10.1016/0167-4838(82)90030-9. [DOI] [PubMed] [Google Scholar]
  35. Murray J. C., Demopulos C. M., Lawn R. M., Motulsky A. G. Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci U S A. 1983 Oct;80(19):5951–5955. doi: 10.1073/pnas.80.19.5951. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Neel J. V. The wonder of our presence here: a commentary on the evolution and maintenance of human diversity. Perspect Biol Med. 1982 Summer;25(4):518–558. doi: 10.1353/pbm.1982.0066. [DOI] [PubMed] [Google Scholar]
  37. O'Farrell P. H. High resolution two-dimensional electrophoresis of proteins. J Biol Chem. 1975 May 25;250(10):4007–4021. [PMC free article] [PubMed] [Google Scholar]
  38. Perler F., Efstratiadis A., Lomedico P., Gilbert W., Kolodner R., Dodgson J. The evolution of genes: the chicken preproinsulin gene. Cell. 1980 Jun;20(2):555–566. doi: 10.1016/0092-8674(80)90641-8. [DOI] [PubMed] [Google Scholar]
  39. Poncz M., Schwartz E., Ballantine M., Surrey S. Nucleotide sequence analysis of the delta beta-globin gene region in humans. J Biol Chem. 1983 Oct 10;258(19):11599–11609. [PubMed] [Google Scholar]
  40. Ramshaw J. A., Coyne J. A., Lewontin R. C. The sensitivity of gel electrophoresis as a detector of genetic variation. Genetics. 1979 Dec;93(4):1019–1037. doi: 10.1093/genetics/93.4.1019. [DOI] [PMC free article] [PubMed] [Google Scholar]
  41. Rosenblum B. B., Neel J. V., Hanash S. M., Joseph J. L., Yew N. Identification of genetic variants in erythrocyte lysate by two-dimensional gel electrophoresis. Am J Hum Genet. 1984 May;36(3):601–612. [PMC free article] [PubMed] [Google Scholar]
  42. Rosenblum B. B., Neel J. V., Hanash S. M. Two-dimensional electrophoresis of plasma polypeptides reveals "high" heterozygosity indices. Proc Natl Acad Sci U S A. 1983 Aug;80(16):5002–5006. doi: 10.1073/pnas.80.16.5002. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Sampsell B. Isolation and genetic characterization of alcohol dehydrogenase thermostability variants occurring in natural populations of Drosophila melanogaster. Biochem Genet. 1977 Oct;15(9-10):971–988. doi: 10.1007/BF00483992. [DOI] [PubMed] [Google Scholar]
  44. Satoh C., Mohrenweiser H. W. Genetic heterogeneity within an electrophoretic phenotype of phosphoglucose isomerase in a Japanese population. Ann Hum Genet. 1979 Jan;42(3):283–292. doi: 10.1111/j.1469-1809.1979.tb00662.x. [DOI] [PubMed] [Google Scholar]
  45. Satoh C., Neel J. V., Yamashita A., Goriki K., Fujita M., Hamilton H. B. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet. 1983 Jul;35(4):656–674. [PMC free article] [PubMed] [Google Scholar]
  46. Scozzari R., Trippa G., Santachiara-Benerecetti A. S., Terrenato L., Iodice C., Benincasa A. Further genetic heterogeneity of human red cell phosphoglucomutase-1: a mon-electrophoretic polymorphism. Ann Hum Genet. 1981 Oct;45(Pt 4):313–322. doi: 10.1111/j.1469-1809.1981.tb00344.x. [DOI] [PubMed] [Google Scholar]
  47. Shaw C. R. Electrophoretic variation in enzymes. Science. 1965 Aug 27;149(3687):936–943. doi: 10.1126/science.149.3687.936. [DOI] [PubMed] [Google Scholar]
  48. Singh R. S., Coulthart M. B. Genic variation in abundant soluble proteins of Drosophila melanogaster and Drosophila pseudoobscura. Genetics. 1982 Nov;102(3):437–453. doi: 10.1093/genetics/102.3.437. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Singh R. S., Hubby J. L., Throckmorton L. H. The study of genic variation by electrophoretic and heat denaturation techniques at the octanol dehydrogenase locus in members of the Drosophila virilis group. Genetics. 1975 Jul;(3):637–650. doi: 10.1093/genetics/80.3.637. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Singh R. S., Lewontin R. C., Felton A. A. Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura. Genetics. 1976 Nov;84(3):609–629. doi: 10.1093/genetics/84.3.609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. Smith S. C., Racine R. R., Langley C. H. Lack of genic variation in the abundant proteins of human kidney. Genetics. 1980 Dec;96(4):967–974. doi: 10.1093/genetics/96.4.967. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Takahashi N., Neel J. V., Satoh C., Nishizaki J., Masunari N. A phylogeny for the principal alleles of the human phosphoglucomutase-1 locus. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6636–6640. doi: 10.1073/pnas.79.21.6636. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. Tanis R. J., Neel J. V., Torres de Arauz R. Two more "private" polymorphisms of Amerindian tribes: LDHb GUA-1 and ACP1 B GUA-1 in the Guaymi in Panama. Am J Hum Genet. 1977 Sep;29(5):419–430. [PMC free article] [PubMed] [Google Scholar]
  54. Trippa G., Loverre A., Catamo A. Thermostability studies for investigating non-electrophoretic polymorphic alleles in Drosophila melanogaster. Nature. 1976 Mar 4;260(5546):42–44. doi: 10.1038/260042a0. [DOI] [PubMed] [Google Scholar]
  55. Walton K. E., Styer D., Gruenstein E. I. Genetic polymorphism in normal human fibroblasts as analyzed by two-dimensional polyacrylamide gel electrophoresis. J Biol Chem. 1979 Aug 25;254(16):7951–7960. [PubMed] [Google Scholar]
  56. Wanner L. A., Neel J. V., Meisler M. H. Separation of allelic variants by two-dimensional electrophoresis. Am J Hum Genet. 1982 Mar;34(2):209–215. [PMC free article] [PubMed] [Google Scholar]
  57. Wray W., Boulikas T., Wray V. P., Hancock R. Silver staining of proteins in polyacrylamide gels. Anal Biochem. 1981 Nov 15;118(1):197–203. doi: 10.1016/0003-2697(81)90179-2. [DOI] [PubMed] [Google Scholar]
  58. Wurzinger K. H., Mohrenweiser H. W. Studies on the genetic and non-genetic (physiological) variation of human erythrocyte glutamic oxaloacetic transaminase. Ann Hum Genet. 1982 Jul;46(Pt 3):191–201. doi: 10.1111/j.1469-1809.1982.tb00711.x. [DOI] [PubMed] [Google Scholar]
  59. Wyman A. R., White R. A highly polymorphic locus in human DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754–6758. doi: 10.1073/pnas.77.11.6754. [DOI] [PMC free article] [PubMed] [Google Scholar]

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