Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI

Matrix Biology

Volumn 19, Issue 1, 2000, Pages 37-46

  Yeowell, Heather N ^a   Allen, Jayme D ^a   Walker, Linda C ^a   Overstreet, Mayra A ^a   Murad, Saood ^a   Thai, Sheau Fung ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Baculovirus expression; Collagen disease; Dimerization; Molecular sequence data; Site directed mutagenesis

Indexed keywords

CYSTEINE; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; DIMERIZATION; EHLERS DANLOS SYNDROME; ENZYME ACTIVITY; FIBROBLAST; HUMAN; HUMAN CELL; PATHOGENESIS; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ALLELES; CELLS, CULTURED; CYSTEINE; EHLERS-DANLOS SYNDROME; HETEROZYGOTE; HUMANS; MUTAGENESIS, SITE-DIRECTED; OXIDATION-REDUCTION; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PROTEIN DENATURATION; SEQUENCE DELETION;

INSECTA; UNIDENTIFIED BACULOVIRUS;

EID: 0033960774     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(99)00055-4     Document Type: Article

References (41)

1. Armstrong L.C., Last J.A. Rat lysyl hydroxylase: molecular cloning, mRNA distribution and expression in a baculovirus system. Biochim. Biophys. Acta. 1264:1995;93-102.
2. Beighton P. The Ehlers-Danlos syndrome. Beighton P. McKusick's Heritable Disorders of Connective Tissue. 1993;189-251 Mosby-Year Book, St. Louis.
3. Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72:1976;248-254.
4. Brinckmann J., Acil Y., Feshchenko S. et al. Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). Arch. Dermatol. Res. 290:1998;181-186.
5. Efstratiadis A., Posakony J.W., Maniatis T. et al. The structure and evolution of the human β-globin gene family. Cell. 21:1980;653-668.
6. Gallagher S.R. One-dimensional SDS gel electrophoresis of proteins. Coligan J.E., Dunn B.M., Ploegh H.L., Speicher D.W., Wingfield P.T. Current Protocols in Protein Science. 1995;10.1.1-10.1.34 John Wiley and Sons, New York.
7. Gardella R., Belletti L., Zoppi N., Marini D., Barlati S., Colombi M. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am. J. Hum. Genet. 59:1996;292-300.
8. Ha V.T., Marshall M.K., Elsas L.J., Pinnell S.R., Yeowell H.N. A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. J. Clin. Invest. 93:1994;1716-1721.
9. Hautala T., Byers M.G., Eddy R.L., Shows T.B., Kivirikko K.I., Myllyla R. Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3 to p36.2. Genomics. 13:1992;62-69.
10. Hautala T., Heikkinen J., Kivirikko K.I., Myllyla R. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics. 15:1993;399-404.
11. Heikkinen J., Toppinen T., Yeowell H.N. et al. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am. J. Hum. Genet. 60:1997;48-56.
12. Hyland J., Ala-Kokko L., Royce P., Steinmann B., Kivirikko K.I., Myllyla R. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nat. Genet. 2:1992;228-231.
13. Kivirikko K.I., Myllyla R., Pihlajaniemi T. Hydroxylation of proline and lysine residues in collagens and other animal and plant proteins. Harding J.J., Crabbe M.J.C. Focus on Post-Translational Modifications of Proteins. 1992;2-51 CRC Press, Boca Raton.
14. Krawczak M., Cooper D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86:1991;425-441.
15. Krol B.J., Murad S., Walker L.C. et al. The expression of a functional, secreted human lysyl hydroxylase in a baculovirus system. J. Invest. Dermatol. 106:1996;11-16.
16. Murad S., Sivarajah A., Pinnell S.R. Prolyl and lysyl hydroxylase activities of human skin fibroblasts: effect of donor age and ascorbate. J. Invest. Dermatol. 75:1980;404-407.
17. Murad S., Sivarajah A., Pinnell S.R. A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts. Coll. Rel. Res. 3:1983;511-515.
18. Murad S., Sivarajah A., Pinnell S.R. Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts. Connect. Tissue Res. 13:1985;181-186.
19. Myllyla R., Pihlajaniemi T., Pajunen L., Turpeenniemi-Hujanen T., Kivirikko K.I. Molecular cloning of chick lysyl hydroxylase. J. Biol. Chem. 266:1991;2805-2810.
20. Myllyla R., Gunzler V., Kivirikko K.I., Kaska D.D. Modification of vertebrate and algal prolyl-4 hydroxylases and vertebrate lysyl hydroxylase by diethyl pyrocarbonate. Biochem. J. 286:1992;923-927.
21. Pajunen L., Suokas M., Hautala T. et al. A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers Danlos syndrome type VI. DNA Cell Biol. 17:1998;117-123.
22. Passoja K., Myllyharju J., Pirskanen A., Kivirikko K.I. Identification of arginine-700 as the residue that binds the C-5 carboxyl group of 2-oxoglutarate in human lysyl hydroxylase 1. FEBS. 434:1998;145-148.
23. Passoja K., Rautavuoma K., Ala-Kokko L., Kosonen T., Kivirikko K.I. Cloning and characterization of a third human lysyl hydroxylase isoform. Proc. Natl. Acad. Sci. USA. 95:1998;10482-10486.
24. Pirskanen A., Kaimio A.M., Myllyla R., Kivirikko K.I. Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. J. Biol. Chem. 271:1996;9398-9402.
25. Pousi B., Hautala T., Heikkinen J., Pajunen L., Kivirikko K.I., Myllyla R. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Am. J. Hum. Genet. 55:1994;899-906.
26. Pousi B., Hautala T., Hyland J. et al. A compound heterozygote patient with Ehlers-Danlos Syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene. Hum. Mutat. 11:1998;55-61.
27. Prockop D.J., Kivirikko K.I. Collagens: molecular biology, diseases, and potentials for therapy. Annu. Rev. Biochem. 64:1995;403-434.
28. Shapiro M.B., Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl. Acid Res. 15:1987;7155-7174.
29. Steinmann B., Royce P.M., Superti-Furga A. The Ehlers-Danlos Syndrome. Royce P.M., Steinmann B. Connective Tissue and its Heritable Disorders. 1993;351-407 Wiley-Liss, New York, NY.
30. Streisinger G., Okada Y., Emrich J. et al. Frameshift mutations and the genetic code. Cold Spring Harb. Symp. Quant. Biol. 31:1966;77-84.
31. Turpeenniemi-Hujanen T.M., Puistola U., Kivirikko K.I. Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties to those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts. Coll. Rel. Res. 1:1981;355-356.
32. Valtavaara M., Papponen H., Pirttila A.M., Hiltunen K., Helander H., Myllyla R. Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle. J. Biol. Chem. 272:1997;6831-6834.
33. Valtavaara M., Szpirer C., Szpirer J., Myllyla R. Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase. J. Biol. Chem. 273:1998;12881-12886.
34. Walker L.C., Marini J.C., Grange D.K., Filie J., Yeowell H.N. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase gene. Mol. Genet. Metab. 67:1999;74-82.
35. Wenstrup R.J., Murad S., Pinnell S.R. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. J. Pediatr. 115:1989;405-409.
36. Yeowell H.N., Pinnell S.R. The Ehlers-Danlos syndromes. Sem. Dermatol. 12:1993;229-240.
37. Yeowell H.N., Walker L.C. Ehlers-Danlos Syndrome type VI results from a nonsense mutation and a splice site mediated exon-skipping mutation in the lysyl hydroxlyase gene. Proc. Assoc. Am. Phys. 109:1997;1-14.
38. Yeowell H.N., Walker L.C. Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. Proc. Assoc. Am. Phys. 111:1999;57-62.
39. Yeowell H.N., Walker L.C. Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene. Matrix Biol. 18:1999;179-187.
40. Yeowell H.N., Ha V., Walker L.C., Murad S., Pinnell S.R. Characterization of a partial cDNA for lysyl hydroxylase from human skin fibroblasts; lysyl hydroxylase mRNAs are regulated differently by minoxidil derivatives and hydralazine. J. Invest. Dermatol. 99:1992;864-869.
41. Yeowell H.N., Ha V.T., Clark W.L., Marshall M.K., Pinnell S.R. Sequence analysis of a cDNA for lysyl hydroxylase isolated from human skin fibroblasts from a normal donor: differences from human placental lysyl hydroxylase cDNA. J. Invest. Dermatol. 102:1994;382-384.