Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene

Matrix Biology

Volumn 18, Issue 2, 1999, Pages 179-187

  Yeowell, Heather N ^a   Walker, Linda C ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Alternative splicing; Developmental regulation; Differential exon expression; Lysyl hydroxylase isoforms; Tissue specificity

Indexed keywords

COMPLEMENTARY DNA; PRIMER DNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AORTA; ARTICLE; DNA LIBRARY; DNA SEQUENCE; DNA TRANSCRIPTION; DURA MATER; EXON; FEMALE; FETUS; GENE AMPLIFICATION; GENE EXPRESSION; HUMAN; HUMAN CELL; INFANT; KIDNEY; LUNG; MALE; NEWBORN; PLACENTA; POLYMERASE CHAIN REACTION; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; SKIN; SKIN FIBROBLAST; SPLEEN; TISSUE SPECIFICITY;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; EXONS; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; SKIN; TISSUE DISTRIBUTION;

EID: 0032940558     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(99)00013-X     Document Type: Article

References (32)

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. Barnes M.J., Constable B.J., Morton L.F., Royce P.M. Age-related variations in hydroxylation of lysine and proline in collagen. Biochem. J. 139:1974;461-468.
3. Bennett V.D., Pallante K.M., Adams S.L. The splicing pattern of fibronectin mRNA changes during chondrogenesis in an unusual form of the mRNA in cartilage. J. Biol. Chem. 266:1991;5918-5924.
4. Burrows N.P., Nicholls A.C., Richards A.J., Luccarini C., Harrison J.B., Yates J.R.W., Pope F.M. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am. J. Hum. Genet. 63:1998;390-398.
5. Chomczynski P., Sacchi N. Single step method for RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:1987;156-159.
6. ffrench-Constant C.L., Hynes R.O. Alternative splicing of fibronectin is temporarily and spatially regulated in the chicken embryo. Development. 106:1988;375-388.
7. Gerriets J.E., Curwin S.L., Last J.A. Tendon hypertrophy is associated with increased hydroxylation of nonhelical lysine residues at two specific cross-linking sites in type I collagen. J. Biol. Chem. 268:1993;25553-25560.
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., Hautala T., Kivirikko K.I., Myllyla R. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. Genomics. 24:1994;464-471.
12. Heikkinen J., Toppinen T., Yeowell H.N., Krieg T., Steinmann B., Kivirikko K.I., Myllyla R. 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.
13. 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.
14. Krainer, A.R., Maniatis, T., 1988. RNA splicing. In: Hames, B.D., Glover, D.M. (Eds.), Transcription and Splicing. IRL Press, Oxford, pp. 131-206.
15. Krol B.J., Murad S., Walker L.C., Marshall M.K., Clark W.L., Pinnell S.R., Yeowell H.N. The expression of a functional, secreted human lysyl hydroxylase in a baculovirus system. J. Invest. Dermatol. 106:1996;11-16.
16. Maquat L.E. Defects in RNA splicing and the consequence of shortened translational reading frames. Am. J. Hum. Genet. 59:1996;279-286.
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. 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.
19. 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.
20. Pajunen L., Suokas M., Hautala T., Kellokumpu S., Tebbe B., Kivirikko K.I., Myllyla R. 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.
21. 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.
22. 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.
23. 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.
24. Pousi B., Hautala T., Hyland J., Schroter J., Eckes B., Kivirikko K.I., Myllyla R. 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.
25. Royce P.M., Barnes M.J. Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen. Biochem. J. 230:1985;475-480.
26. Szpirer C., Szpirer J., Riviere M., Vanvooren P., Valtavaara M., Myllyla R. Localization of the gene encoding a novel isoform of lysyl hydroxylase. Mamm. Genome. 8:1997;707-708.
27. 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.
28. 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.
29. Walker, L.C., Marini, J.C., Grange, D.K., Filie, J., Yeowell, H.N., 1998. 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. (in press).
30. 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 hydroxylase gene. Proc. Assoc. Am. Phys. 109:1997;1-14.
31. 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.
32. 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.