Splicing defects in the COL3A1 gene: Marked preference for 5' (Donor) splice-site mutations in patients with exon-skipping mutations and Ehlers- Danlos syndrome type IV

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1276-1286

  Schwarze, Ulrike ^a   Goldstein, Jayne A ^a   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 3; DNA; MESSENGER RNA; PROCOLLAGEN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; EXON; FEMALE; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SKIN FIBROBLAST;

EID: 0031458795     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301641     Document Type: Article

References (54)

1. Ala-Kokko L, Kontusaari S, Baldwin CT, Kuivaniemi H, Prockop DJ (1989) Structure of cDNA clones coding for the entire preproα1(III) chain of human type III procollagen. Biochem J 260:509-516
2. +1→A change in IVS20 of the type III procollagen gene leads to cryptic splicing of the mRNA in an EDS IV patient. Matrix 13:33
3. Benson-Chanda V, Su M-W, Weil D, Chu M-L, Ramirez F (1989) Cloning and analysis of the 5′ portion of the human type-III procollagen gene (COL3A1). Gene 78:255-265
4. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411-2414
5. Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH (1985) Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 260: 1734-1742
6. Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, et al (1997) Ehlers-Danlos syndrome type VIIA and VIIB result from splice junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet 72: 94-105
7. Carter MS, Shulin L, Wilkinson MF (1996) A splicing-dependent regulatory mechanism that detects translation signals. EMBO J 15:5965-5975
8. Chiodo AA, Sillence DO, Cole WG, Bateman JF (1995) Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. Biochem J 311:939-943
9. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
10. Chu M-L, Prockop DJ (1993) Collagen: gene structure. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders. Wiley-Liss, New York, pp 149-165
11. Cogan JD, McCarthy EMS, Prince MA, Lekhakula S, Futrakul A, Bundey S, Phillips JA III (1996) A novel mechanism of aberrant splicing. Am J Hum Genet Suppl 59:A10
12. Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl H-HM, Chan D, et al (1990) A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem 265: 17070-17077
13. Del Gatto F, Gesnel M-C, Breathnach R (1996) The exon sequence TAGG can inhibit splicing. Nucleic Acids Res 24: 2017-2021
14. Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, et al (1980) The structure and evolution of the human β-globin gene family. Cell 21:653-668
15. Estes PA, Cooke NE, Liebhaber SA (1992) A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms. J Biol Chem 267:14902-14908
16. Hawkins JD (1988) A survey on intron and exon length. Nucleic Acids Res 16:9893-9908
17. Kinnane J, Priebe C, Caty M, Kuppermann N (1995) Perforation of the colon in an adolescent girl. Pediatr Emerg Care 11:230-232
18. +1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Am J Hum Genet 47:112-120
19. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
20. +1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome IV. J Biol Chem 265: 12067-12074
21. Kuivaniemi H, Prockop DJ, Wu Y, Madhatheri SL, Kleinert C, Earley JJ, Jokinen A, et al (1993) Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results form sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 43:2652-2658
22. Kuivaniemi H, Tromp G, Bergfeld WF, Kay M, Helm TN (1995) Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J Invest Dermatol 105:352-356
23. Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315
24. Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez (1991) G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem 266:5256-5259
25. Liu X, Wu H, Byrne M, Krane S, Jaenisch R (1997) Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Proc Natl Acad Sci USA 94:1852-1856
26. +6 mutation in the donor splice site of COL3A1 IVS 7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. J Med Genet 30:376-380
27. MacMillan AM, McCaw PS, Crispino JD, Sharp PA (1997) SC35-mediated reconstitution of splicing in U2AF-depleted nuclear extract. Proc Natl Acad Sci USA 94:133-136
28. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
29. _ (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
30. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119-1150
31. Peterson ML, Bryman MB, Peiter M, Cowan C (1994) Exon size affects competition between splicing and cleavage-polyadenylation in the immunoglobulin gene. Mol Cell Biol 14: 77-86
32. Pope FM, Narcisi PN, Nicholls AC, Germaine D, Pals G, Richards AJ (1996) COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 135:163-181
33. Redford-Badwal DA, Stover ML, Valli M, McKinstry MB, Rowe DW (1996) Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J Clin Invest 97:1035-1040
34. Richards AJ, Narcisi P, Ferguson C, Cobben JM, Pope FM (1994) Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV. Hum Mol Genet 3:1901-1902
35. Robberson BL, Cote GJ, Berget SM (1990) Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 10:84-94
36. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, et al (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
37. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
38. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463-5467
39. Singh R, Valcárcel J, Green MR (1995) Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins. Science 268:1173-1176
40. Sirand-Pugnet P, Durosay P, Brody E, Marie J (1995) An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken β-tropomyosin pre-mRNA. Nucleic Acids Res 23:3501-3507
41. Smith LT, Schwarze U, Goldstein J, Byers PH (1997) Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol 108: 241-247
42. Steinmann B, Royce PM, Superti-Furga A (1993) The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders. Wiley-Liss, New York, pp 351-407
43. Sterner DA, Berget SM (1993) In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit. Mol Cell Biol 13:2677-2687
44. Stover ML, Primorac D, Liu SC, McKinstry MB, Rowe DW (1993) Defective splicing of mRNA from one COL1A1 allele of type I collagen in non-deforming (type I) osteogenesis imperfecta. J Clin Invest 92:1994-2002
45. Thakker-Varia S, Anderson DW, Kuivaniemi H, Tromp G, Shin H-G, van der Rest M, Glorieux FH, et al (1995) Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. Hum Mutat 6:116-125
46. Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, et al (1993) Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. J Clin Invest 91:2539-2545
47. Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, et al (1986) Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet 74:41-46
48. 65 RS region with pre-mRNA of branch point and promotion base pairing with U2 snRNA. Science 273: 1706-1709
49. van Oers CCM, Adema GJ, Zandberg H, Moen TC, Baas PD (1994) Two different sequence elements within exon 4 are necessary for calcitonin-specific splicing of the human calcitonin/calcitonin gene-related peptide I pre-mRNA. Mol Cell Biol 14:951-960
50. Wang J, Takagaki Y, Manley JL (1996) Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability. Genes Dev 10:2588-2599
51. Weinbaum PJ, Cassidy SB, Campbell WA, Rickles FR, Vintzileos AM, Nochimson DJ, Tsipouras P (1987) Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV. Am J Perinatol 4:134-137
52. Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, et al (1994) Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 55:638-647
53. Willing MC, Deschenes SP, Slayton RL, Roberts EJ (1996) Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 59:799-809
54. +5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. Hum Mutat 2:28-36