Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

Nature Genetics

Volumn 9, Issue 1, 1995, Pages 31-36

  Liu, Xin ^b   Keene, Douglas R ^d   Jaenisch, Rudolf ^b,c   Ramirez, Francesco ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 11; COLLAGEN TYPE 5;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; COLLAGEN SYNTHESIS; CONTROLLED STUDY; GENE MUTATION; GENE TARGETING; GROWTH REGULATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; TISSUE SPECIFICITY;

ANIMAL; BASE SEQUENCE; COLLAGEN; CONNECTIVE TISSUE DISEASES; DISEASE MODELS, ANIMAL; DNA; EXTRACELLULAR MATRIX; HUMAN; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; RABBITS; SEQUENCE DELETION; SKIN; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 84966163623     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0195-31     Document Type: Article

References (28)

1. Prockop, D.J. Mutations that alter the primary structure of type I collagen. J. biol. Chem. 265, 15349-15352 (1990).
2. Birk, D.E., Silver, F.H. & Trelstad, R.L., Martrix Assembly. in Cell Biology of Extracellular Matrix (ed. Hay, E.D.) 221-254 (Plenum Press, New York, 1991).
3. Birk, D.E., Fitch, J.M., Babiarz, J.P., Doane, K.J. & Linsenmayer, T.F. Collagen fibrillogenesis in vitro: Interaction of types I and V collagen regulates fibril diameter. J. cell. Sci. 95, 649-657 (1990).
4. Fäsaler, R. et al. Mice lacking α1(IX)collagen develop noninflamatory degenerative joint disease. Proc. natn. Acad. Sci. U.S.A 91, 5070-6074 (1994).
5. Rosati, R. et al. Normal long bone growth and development in type X collagen-null mice. Nature Genet. 8, 129-135 (1994).
6. Vuorio, E. & de Crombrugghe, B. The family of collagen genes. A. Rev. Biochem. 59, 837-872 (1990).
7. Rook, A. & Dawber, R., Diseases of the Hair and Scalp. (Blackwell Scientific. Oxford, 1982).
8. Hay, E.D. Development of the vertebrate cornea. Int. Rev. Cytol. 63, 263-322 (1979).
9. Birk, D.E. & Trelstad, R.L. Extracellular compartments in matrix morphogenesis: collagen fibril, bundle, and lamellar formation by corneal fibroblasts. J. Cell Biol. 99, 2024-2033 (1984).
10. Tseng, S.C.G., Smuckler, D. & Stern, R. Comparison of collagen types in adult and fetal bovine corneas. J. biol. Chem. 257, 2627-2633 (1982).
11. Birk, D.E., Fitch, J.M., Babiarz, J.P. & Linsenmayer, T.F. Collagen type I and type V are present in the same fibril in the avian corneal stroma. J. Cell Biol. 106, 999-1008 (1988).
12. Linsenmayer, T.F. et al. Type V collagen: molecular structure and fibrillar organization of the chicken α1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis. J. Cell Biol. 121, 1181-1189 (1993).
13. Moradi-Améli, M. et al. Diversity in the processing events at the N-terminus of collagen V. Eur. J. Biochem. 221, 987-995 (1994).
14. Bonadio, J. et al. Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc. natn. Acad. Sci. U.S.A. 87, 7145-7149 (1990).
15. Andrikopoulos, K., Suzuki, H.R., Solursh, M. & Ramirez, F. Localization of pro- α2(V) collagen transcripts in the tissues of the developing mouse embryo. Dev. Dyn. 195, 113-120 (1992).
16. Saga, Y., Yagi, T., Ikawa, Y., Sakakura, T. & Aizawa, S. Mice develop normally without tenascin. Genes Dev. 6, 1821-1831 (1992).
17. Kratochwil, K., Dziadek, M., Lohler, J., Harbers, K. & Jaenisch, R. Normal epithelial branching morphogenesis in the absence of collagen I. Dev. Biol. 117, 596-606 (1986).
18. Byers, P.H. & Holbrook, K.A. Ehlers-Danlos Syndrome. in Principles and practice of medical genetics (eds Emery. A.E.H. & Rimoin, D.L.) 1065-1081 (Churchill Livingstone, Edinburgh, 1990).
19. Li, Y. et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell (In the press).
20. Tybulewicz, V.L.J., Crawford, C.E., Jackson, P.K., Bronson, R.T. & Mulligan, R.C. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl protooncogene. Cell 65, 1153-1163 (1991).
21. Li, E., Bestor, T.H. & Jaenisch, R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69, 915-926 (1992).
22. Bradley, A. Production and analysis of chimearic mice. In Teratocarcinomas and embryonic stem cells: a practical approach (ed. Robertson, E.J.) 113-151 (IRL Press, Oxford, 1987).
23. Sambrook, E., Fritsch, E.F. & Maniatis, T. Molecular cloning: a laboratory manual 1-545 (Cold Spring Harbor, New York, 1989).
24. Broek, D.L., Madri, J., Elkenberry, E.F. & Brodsky, B. Characterization of the tissue form of type V collagen from chick bone. J. biol. Chem. 260, 555-562 (1985).
25. Woodbury, D., Benson, C.V. & Ramirez, F. Amino-terminal propeptide of human pro- α2(V) collagen conforms to the structural criteria of a fibrillar procoliagen molecule. J. biol. Chem. 284, 2735-2738 (1989).
26. Glorieux, F.H., Salle, B.L., Travers, R. & Audra, P.H. Dynamic histomorphometric evaluation of human fetal bone formation. Bone 12, 377-381 (1991).
27. Lufkin, T., Mark, M., Hart, C.P., LeMeur, M. & Chambon, P. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its postral domain of expression. Cell 66, 1105-1119 (1992).
28. Keene, D.R., Engvall, E. & Glanville, R.W. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. J. Cell Biol. 107, 1995-2006 (1988).