Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 1011-1016

  Dupuis, Lucie ^e   Leon Del Rio, Alfonso ^e   Leclerc, Daniel ^e   Campeau, Eric ^e   Sweetman, Lawrence ^a   Saudubray, Jean Marie ^b   Herman, Gail ^c   Gibson, K Michael ^d   Gravel, Roy A ^e  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLASE; SYNTHETASE;

ARTICLE; BINDING AFFINITY; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF CARBOHYDRATE METABOLISM; ESCHERICHIA COLI; GENE CLUSTER; GENE MUTATION; HUMAN; HUMAN CELL; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY;

AMINO ACID SEQUENCE; BINDING SITES; BIOTIN; CARBON-NITROGEN LIGASES; CELL LINE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; LIGASES; MOLECULAR SEQUENCE DATA; MULTIPLE CARBOXYLASE DEFICIENCY; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030055368     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.1011     Document Type: Article

References (29)

1. Wolf, B. (1995) The Metabolic and Molecular Basis of Inherited Diseases, C.R. Scriver, A.L. Beaudet, W.S. Sly and Valle, D. (eds). McGraw-Hill, New York, Vol.7, pp. 3151-3177.
2. Wolf, B., Grier, R.E., Allen, R.J., Goodman, S.I. and Kien, C.L. (1983) Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin. Chim. Acta., 131, 273-281.
3. Sherwood, W.G., Saunders, M., Robinson, B.H., Brewster, T. and Gravel, R.A. (1982) Lactic acidosis in biotin responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. J. Pediatr., 101, 546-550.
4. Lamhonwah, A.M., Quan, F. and Gravel, R.A. (1987) Sequence homology around the biotin-binding site of human propionyl-CoA carboxylase and pyruvate carboxylase. Arch. Biochem. Biophys., 254, 631-636.
5. Chang, H.I. and Cohen, N.D. (1983) Regulation and intracellular localization of the biotin holocarboxylase synthetase of 3T3-L1 cells. Arch. Biochem. Biophys., 225, 237-247.
6. Chiba, Y., Suzuki, Y., Aoki, Y., Ishida, Y. and Narisawa, K. (1994) Purification and properties of bovine liver holocarboxylase synthetase. Arch. Biochem. Biophys., 313, 8-14.
7. Leon-Del-Rio, A., Leclerc, D., Akerman, B., Wakamatsu, N. and Gravel, R.A. (1995) Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli. Proc. Natl Acad. Sci. USA, 92, 4626-4630.
8. Suzuki, Y., Aoki, Y., Ishida, Y., Chiba, Y., Iwamatsu, A., Kishino, T., Niikawa, N., Matsubara, Y. and Narisawa, K. (1994) Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nature Genet., 8, 122-128.
9. Wilson, K.P., Shewchuk, L.M., Brennan, R.G., Otsuka, A.J. and Matthews, B.W. (1992) Escherichia coli biotin holoenzyme synthetase/bio repressor crystal structure delineates the biotin- and DNA-binding domains. Proc. Natl Acad. Sci. USA, 89, 9257-9261.
10. Burn, B.J., Sweetman, L. and Nyhan, W.L. (1985) Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet., 37, 326-337.
11. Ghneim, H.K. and Bartlett, K. (1982) Mechanism of biotin-responsive combined carboxylase deficiency (letter). Lancet, i, 1187-1188.
12. Burri, B.J., Sweetman, L. and Nyhan, W.L. (1981) Mutant holocarboxylase synthetase: Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J. Clin. Invest., 68, 1491-1495.
13. Wolf, B., Hsia, Y.E., Sweetman, L., Feldman, G., Boychuk, R.B., Bart, R.D., Crowell, D.H., DiMauro, R.M. and Nyhan, W.L. (1981) Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics, 68, 113-118.
14. Triggs Raine, B.L., Akerman, B.R., Clarke, J.T. and Gravel, R.A. (1991) Sequence of DNA flanking the exons of the HEXA gene and identification of mutations in Tay-Sachs disease. Am. J. Hum. Genet., 49, 1041-1054.
15. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polmorphisms using the polymerase chain reaction. Genomics, 5, 874-879.
16. Winship, P.R. (1989) An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucleic Acids Res., 17, 1266.
17. Ochman, H., Medhora, M.M., Garza, D. and Hartl, D.L. (1990) Amplification of flanking sequences by inverse PCR. In: PCR Protocols A Guide to Methods and Applications, M.A. Innes, D.H. Gelfand, J.J. Sninsky and T.J. White (eds). Academic Press, San Diego, pp. 219-227.
18. Cronan, J.E., Jr. and Wallace, J.C. (1995) The gene encoding the biotin-apoprotein ligase of Saccharomyces cerevisiae. FEMS Microb. Lett., 130, 221-229.
19. Howard, P.K., Shaw, J. and Otsuka, A.J. (1985) Nucleotide sequence of the birA gene encoding the biotin operon repressor and biotin holoenzyme synthetase functions of EscheriMa coli. Gene, 35, 321-331.
20. Xu, X., Matsuno Yagi, A. and Yagi, T. (1993) DNA sequencing of the seven remaining structural genes of the gene cluster encoding the energy-transducing NADH-quinone oxidoreductase of Paracoccus denitrificans. Biochemistry, 32, 968-981.
21. Bower, S., Perkins, J., Yocum, R.R., Serror, P., Sorokin, A., Rahaim, P, Howitt, C.L., Prasad, N., Ehrlich, S.D. and Pero, J. (1995) Cloning and characterization of the Bacillus subtilis birA gene encoding a repressor of the biotin operon. J. Bacteriol., 177, 2572-2575.
22. Dombrosky, P.M., Schimd, M.B. and Young, K.D. (1994) GenBank accession number P37416.
23. Gompertz, D., Draffan, G.H., Watts, J.L. and Hull, D. (1971) Biotin-responsive B-methylcrotonylglycinuria. Lancet, 22-24.
24. Sweetman, L., Bates, S.P., Hull, D. and Nyhan, W.L. (1977) Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methyl-crotonylglycinuria. Pediatr. Res., 11, 1144-1147.
25. Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R. and Gravel, R.A. (1979) Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. J. Clin. Invest., 64, 1695-1702.
26. Bartlett, K. and Gompertz, D. (1976) Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts. Lancet, 804.
27. Weyler, B., Sweetman, L., Maggio, D.C. and Nyhan, W.L. (1977) Deficiency of propionyl-CoA carboxylase in a patient with methylcrotonylglycinuria. Clin. Chim. Acta, 76, 321-328.
28. Packman, S., Caswell, N., Gonzalez Rios, M.C., Kadlecek, T., Cann, H., Rassin, D. and McKay, C. (1984) Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet., 36, 80-92.
29. Livne, M., Gibson, K.M., Amir, N., Eshel, G. and Elpeleg, O.N. (1994) Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. J. Child Neurol., 9, 170-172.