The expanded collagen VI family: New chains and new questions

Connective Tissue Research

Volumn 54, Issue 6, 2013, Pages 345-350

  Fitzgerald, Jamie ^a,b   Holden, Paul ^a   Hansen, Uwe ^c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Collagen assembly; Collagen VI; Extracellular matrix; Skeletal muscle collagen

Indexed keywords

COLLAGEN TYPE 6; COLLAGEN TYPE 6 ALPHA 1; COLLAGEN TYPE 6 ALPHA 2; COLLAGEN TYPE 6 ALPHA 3; COLLAGEN TYPE 6 ALPHA 4; COLLAGEN TYPE 6 ALPHA 5; COLLAGEN TYPE 6 ALPHA 6; DIMER; MONOMER; TETRAMER; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

BASEMENT MEMBRANE; CHROMOSOME 3Q; CHROMOSOME 9; CHROMOSOME STRUCTURE; DUCHENNE MUSCULAR DYSTROPHY; GENE CLUSTER; GENE LOCUS; GENE MUTATION; HUMAN; MOLECULAR WEIGHT; MUSCLE DISEASE; MUSCULAR DYSTROPHY; NEUROMUSCULAR DISEASE; NEUROMUSCULAR SYNAPSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PHYLOGENY; PROTEIN EXPRESSION; REVIEW; SKELETAL MUSCLE;

ANIMALS; CHROMOSOMES; COLLAGEN TYPE VI; HUMANS; PROTEIN STRUCTURE, TERTIARY;

EID: 84887861038     PISSN: 03008207     EISSN: 16078438     Source Type: Journal    
DOI: 10.3109/03008207.2013.822865     Document Type: Review

References (43)

1. Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 2004;20: 33-43. (Pubitemid 38032818)
2. Gordon MK, Hahn RA. Collagens. Cell Tissue Res 2010;339: 247-57.
3. Ricard-Blum S. The collagen family. Cold Spring Harb Perspect Biol 2011;3:a004978.
4. Chu ML, Mann K, Deutzmann R, Pribula-Conway D, Hsu-Chen CC, Bernard MP, Timpl R. Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. EurJBiochem 1987;168:309-17.
5. Chu ML, Pan TC, Conway D, Kuo HJ, Glanville RW, Timpl R, Mann K, Deutzmann R. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. EMBO J 1989;8:1939-46. (Pubitemid 19273518)
6. Chu ML, Zhang RZ, Pan TC, Stokes D, Conway D, Kuo HJ, Glanville R, Mayer U, Mann K, Deutzmann R, Timpl R. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. EMBO J 1990;9:385-93. (Pubitemid 20044757)
7. Fitzgerald J, Rich C, Zhou FH, Hansen U. Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem 2008; 283:20170-80.
8. Gara SK, Grumati P, Urciuolo A, Bonaldo P, Kobbe B, Koch M, Paulsson M, Wagener R. Three novel collagen VI chains with high homology to the alpha3 chain. J Biol Chem 2008;283:10658-70.
9. Wagener R, Gara SK, Kobbe B, Paulsson M, Zaucke F. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 50 part of the split COL6A4 gene. Matrix Biol 2009;28:307-10.
10. Kehrer-Sawatzki H, Cooper DN. Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Hum Mutat 2007;28:99-130. (Pubitemid 46233308)
11. Mello CC, Conte Jr D. Revealing the world of RNA interference. Nature 2004;431:338-42. (Pubitemid 39265673)
12. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight? Nat Rev Genet 2008;9:102-14.
13. Beecher N, Roseman AM, Jowitt TA, Berry R, Troilo H, Kammerer RA, Shuttleworth CA, Kielty CM, Baldock C. Collagen VI, conformation of A-domain arrays and microfibril architecture. J Biol Chem 2011;286:40266-75.
14. Fitzgerald J, Morgelin M, Selan C, Wiberg C, Keene DR, Lamande SR, Bateman JF. The N-terminal N5 subdomain of the alpha 3(VI) chain is important for collagen VI microfibril formation. J Biol Chem 2001;276:187-93. (Pubitemid 32050306)
15. Furthmayr H, Wiedemann H, Timpl R, Odermatt E, Engel J. Electron-microscopical approach to a structural model of intima collagen. Biochem J 1983;211:303-11. (Pubitemid 13092520)
16. Chu ML, Conway D, Pan TC, Baldwin C, Mann K, Deutzmann R, Timpl R. Amino acid sequence of the triple-helical domain of human collagen type VI. J Biol Chem 1988;263:18601-6. (Pubitemid 19016317)
17. Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005;14:279-93.
18. Nanda A, Carson-Walter EB, Seaman S, Barber TD, Stampfl J, Singh S, Vogelstein B, Kinzler KW, St Croix B. TEM8 interacts with the cleaved C5 domain of collagen alpha 3(VI). Cancer Res 2004;64:817-20. (Pubitemid 38176877)
19. Park J, Scherer PE. Adipocyte-derived endotrophin promotes malignant tumor progression. J Clin Invest 2012;122:4243-56.
20. Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamande SR. Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. J Biol Chem 2010;285: 33567-76.
21. Ball SG, Baldock C, Kielty CM, Shuttleworth CA. The role of the C1 and C2 a-domains in type VI collagen assembly. J Biol Chem 2001;276:7422-30.
22. Gara SK, Grumati P, Squarzoni S, Sabatelli P, Urciuolo A, Bonaldo P, Paulsson M, Wagener R. Differential and restricted expression of novel collagen VI chains in mouse. Matrix Biol 2011;30:248-57.
23. Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S. A functional polymorphism in the 50 UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007;39:529-33. (Pubitemid 46514783)
24. Nakajima M, Miyamoto Y, Ikegawa S. Cloning and characterization of the osteoarthritis-associated gene DVWA. J Bone Miner Metab 2011;29:300-8.
25. Lee SJ, Kim MJ, Kee SJ, Song SK, Kweon SS, Shin MH, Park DJ, Park YW, Lee SS, Kim TJ. Association study of the candidate gene for knee osteoarthritis in Koreans. Rheumatol Int 2013;33:783-6.
26. Meulenbelt I, Chapman K, Dieguez-Gonzalez R, Shi D, Tsezou A, Dai J, Malizos KN, Kloppenburg M, Carr A, Nakajima M, van der Breggen R, Lakenberg N, Gomez-Reino JJ, Jiang Q, Ikegawa S, Gonzalez A, Loughlin J, Slagboom EP. Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations. Hum Mol Genet 2009;18: 1518-23.
27. Valdes AM, Spector TD, Doherty S, Wheeler M, Hart DJ, Doherty M. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. Ann Rheum Dis 2009;68: 1916-20.
28. Soderhall C, Marenholz I, Kerscher T, Ruschendorf F, Esparza-Gordillo J, Worm M, Gruber C, Mayr G, Albrecht M, Rohde K, Schulz H, Wahn U, Hubner N, Lee YA. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol 2007;5:1952-61. (Pubitemid 47416593)
29. Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Expression of the collagen VI alpha5 and alpha6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. J Invest Dermatol 2011;131: 99-107.
30. Harazin M, Parwez Q, Petrasch-Parwez E, Epplen JT, Arinir U, Hoffjan S, Stemmler S. Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease. J Dermatol 2010;37:740-2.
31. Zucchelli M, Torkvist L, Bresso F, Halfvarson J, Soderhall C, Lee YA, Lofberg R, Kere J, D'Amato M. No association between the eczema genes COL29A1 and IL31 and inflammatory bowel disease. Inflamm Bowel Dis 2009;15:961-2.
32. Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R. Expression of collagen VI alpha5 and alpha6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol 2012;31: 187-96.
33. Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Neuropediatrics 2004;35:103-12. (Pubitemid 38639317)
34. Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002;70:1446-58. (Pubitemid 34533892)
35. Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol 2005;58:400-10. (Pubitemid 41266626)
36. Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum Genet 2005;117:460-6. (Pubitemid 41236367)
37. Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 2005;64:1931-7. (Pubitemid 40800709)
38. Lamande SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 1999;274:21817-22.
39. Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet 2005;42:673-85. (Pubitemid 41306057)
40. Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord 2006;16:571-82. (Pubitemid 44374327)
41. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 2005;42:108-20. (Pubitemid 40204364)
42. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008;71:1245-53.
43. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet 2010;11:44.