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. 1978 Jan;30(1):1–13.

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

H F Willard, I S Mellman, L E Rosenberg
PMCID: PMC1685448  PMID: 23678

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Selected References

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

  1. Astrin K. H., Caskey C. T. Mutants of purine metabolism in cultured mouse and hamster cells. Arch Biochem Biophys. 1976 Oct;176(2):397–410. doi: 10.1016/0003-9861(76)90182-x. [DOI] [PubMed] [Google Scholar]
  2. Böhlen P., Stein S., Dairman W., Udenfriend S. Fluorometric assay of proteins in the nanogram range. Arch Biochem Biophys. 1973 Mar;155(1):213–220. doi: 10.1016/s0003-9861(73)80023-2. [DOI] [PubMed] [Google Scholar]
  3. Chasin L. A., Urlaub G. Mutant alleles for hypoxanthine phosphoriboxyltransferase: codominant expression, complementation, and segregation in hybrid Chinese hamster cells. Somatic Cell Genet. 1976 Sep;2(5):453–467. doi: 10.1007/BF01542725. [DOI] [PubMed] [Google Scholar]
  4. Davidson R. L., Gerald P. S. Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol. Somatic Cell Genet. 1976 Mar;2(2):165–176. doi: 10.1007/BF01542629. [DOI] [PubMed] [Google Scholar]
  5. Davidson R. L., O'Malley K. A., Wheeler T. B. Polyethylene glycol-induced mammalian cell hybridization: effect of polyethylene glycol molecular weight and concentration. Somatic Cell Genet. 1976 May;2(3):271–280. doi: 10.1007/BF01538965. [DOI] [PubMed] [Google Scholar]
  6. Dillon M. J., England J. M., Gompertz D., Goodey P. A., Grant D. B., Hussein H. A., Linnell J. C., Matthews D. M., Mudd S. H., Newns G. H. Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism. Clin Sci Mol Med. 1974 Jul;47(1):43–61. doi: 10.1042/cs0470043. [DOI] [PubMed] [Google Scholar]
  7. Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968 Nov 1;162(3853):570–572. doi: 10.1126/science.162.3853.570. [DOI] [PubMed] [Google Scholar]
  8. Fujii K., Galivan J. H., Huennekens F. M. Activation of methionine synthase: further characterization of flavoprotein system. Arch Biochem Biophys. 1977 Jan 30;178(2):662–670. doi: 10.1016/0003-9861(77)90238-7. [DOI] [PubMed] [Google Scholar]
  9. Galjaard H., Hoogeveen A., de Wit-Verbeek H. A., Reuser A. J., Ho M. W., Robinson D. Genetic heterogeneity in GM1-gangliosidosis. Nature. 1975 Sep 4;257(5521):60–62. doi: 10.1038/257060a0. [DOI] [PubMed] [Google Scholar]
  10. Galjaard H., Hoogeveen A., de Wit-Verbeek H. A., Reuser A. J., Keijzer W., Westerveld A., Bootsma D. Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization. Exp Cell Res. 1974 Aug;87(2):444–448. doi: 10.1016/0014-4827(74)90515-1. [DOI] [PubMed] [Google Scholar]
  11. Goodman S. I., Moe P. G., Hammond K. B., Mudd S. H., Uhlendorf B. W. Homocystinuria with methylmalonic aciduria: two cases in a sibship. Biochem Med. 1970 Dec;4(5):500–515. doi: 10.1016/0006-2944(70)90080-3. [DOI] [PubMed] [Google Scholar]
  12. Gravel R. A., Lam K. F., Scully K. J., Hsia Y. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet. 1977 Jul;29(4):378–388. [PMC free article] [PubMed] [Google Scholar]
  13. Gravel R. A., Mahoney M. J., Ruddle F. H., Rosenberg L. E. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A. 1975 Aug;72(8):3181–3185. doi: 10.1073/pnas.72.8.3181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hoffman R. M., Erbe R. W. High in vivo rates of methionine biosynthesis in transformed human and malignant rat cells auxotrophic for methionine. Proc Natl Acad Sci U S A. 1976 May;73(5):1523–1527. doi: 10.1073/pnas.73.5.1523. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Kao F., Chasin L., Puck T. T. Genetics of somatic mammalian cells. X. Complementation analysis of glycine-requiring mutants. Proc Natl Acad Sci U S A. 1969 Dec;64(4):1284–1291. doi: 10.1073/pnas.64.4.1284. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Kraemer K. H., De Weerd-Kastelein E. A., Robbins J. H., Keijzer W., Barrett S. F., Petinga R. A., Bootsma D. Five complementation groups in xeroderma pigmentosum. Mutat Res. 1975 Dec;33(2-3):327–340. doi: 10.1016/0027-5107(75)90208-0. [DOI] [PubMed] [Google Scholar]
  17. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  18. Linnell J. C., Matthews D. M., Mudd S. H., Uhlendorf B. W., Wise I. J. Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria. Pediatr Res. 1976 Mar;10(3):179–183. doi: 10.1203/00006450-197603000-00007. [DOI] [PubMed] [Google Scholar]
  19. Lyons L. B., Cox R. P., Dancis J. Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature. 1973 Jun 29;243(5409):533–535. doi: 10.1038/243533a0. [DOI] [PubMed] [Google Scholar]
  20. Mahoney M. J., Hart A. C., Steen V. D., Rosenberg L. E. Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. Proc Natl Acad Sci U S A. 1975 Jul;72(7):2799–2803. doi: 10.1073/pnas.72.7.2799. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Mahoney M. J., Rosenberg L. E., Mudd S. H., Uhlendorf B. W. Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochem Biophys Res Commun. 1971 Jul 16;44(2):375–381. doi: 10.1016/0006-291x(71)90610-3. [DOI] [PubMed] [Google Scholar]
  22. Mahoney M. J., Rosenberg L. E. Synthesis of cobalamin coenzymes by human cells in tissue culture. J Lab Clin Med. 1971 Aug;78(2):302–308. [PubMed] [Google Scholar]
  23. Mellman I. S., Youngdahl-Turner P., Willard H. F., Rosenberg L. E. Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver. Proc Natl Acad Sci U S A. 1977 Mar;74(3):916–920. doi: 10.1073/pnas.74.3.916. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Morrow G., 3rd, Barness L. A., Cardinale G. J., Abeles R. H., Flaks J. G. Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. Proc Natl Acad Sci U S A. 1969 May;63(1):191–197. doi: 10.1073/pnas.63.1.191. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Mudd S. H., Levy H., Morrow G., 3rd Deranged B 12 metabolism: effects on sulfur amino acid metabolism. Biochem Med. 1970 Nov;4(3):193–214. doi: 10.1016/0006-2944(70)90049-9. [DOI] [PubMed] [Google Scholar]
  26. Mudd S. H., Uhlendorf B. W., Hinds K. R. Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture. Biochem Med. 1970 Nov;4(3):215–239. doi: 10.1016/0006-2944(70)90050-5. [DOI] [PubMed] [Google Scholar]
  27. Nadler H. L., Chacko C. M., Rachmeler M. Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. Proc Natl Acad Sci U S A. 1970 Oct;67(2):976–982. doi: 10.1073/pnas.67.2.976. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Patterson D., Kao F. T., Puck T. T. Genetics of somatic mammalian cells: biochemical genetics of Chinese hamster cell mutants with deviant purine metabolism. Proc Natl Acad Sci U S A. 1974 May;71(5):2057–2061. doi: 10.1073/pnas.71.5.2057. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Pontecorvo G. Production of mammalian somatic cell hybrids by means of polyethylene glycol treatment. Somatic Cell Genet. 1975 Oct;1(4):397–400. doi: 10.1007/BF01538671. [DOI] [PubMed] [Google Scholar]
  30. Pontecorvo G., Riddle P. N., Hales A. Time and mode of fusion of human fibroblasts treated with polyethylene glycol (PEG). Nature. 1977 Jan 20;265(5591):257–258. doi: 10.1038/265257a0. [DOI] [PubMed] [Google Scholar]
  31. Rosenberg L. E., Lilljeqvist A., Hsia Y. E. Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency. Science. 1968 Nov 15;162(3855):805–807. doi: 10.1126/science.162.3855.805. [DOI] [PubMed] [Google Scholar]
  32. Rosenberg L. E., Patel L., Lilljeqvist A. C. Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin. Proc Natl Acad Sci U S A. 1975 Nov;72(11):4617–4621. doi: 10.1073/pnas.72.11.4617. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Siminovitch L. On the nature of hereditable variation in cultured somatic cells. Cell. 1976 Jan;7(1):1–11. doi: 10.1016/0092-8674(76)90249-x. [DOI] [PubMed] [Google Scholar]
  34. Singh S., Willers I., Goedde H. W. Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts. Clin Genet. 1977 Apr;11(4):277–284. doi: 10.1111/j.1399-0004.1977.tb01313.x. [DOI] [PubMed] [Google Scholar]
  35. Thomas G. H., Taylor H. A., Miller C. S., Axelman J., Migeon B. R. Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. Nature. 1974 Aug 16;250(467):580–582. doi: 10.1038/250580a0. [DOI] [PubMed] [Google Scholar]
  36. Willard H. F., Ambani L. M., Hart A. C., Mahoney M. J., Rosenberg L. E. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet. 1976 Dec 15;34(3):277–283. doi: 10.1007/BF00295291. [DOI] [PubMed] [Google Scholar]

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