[en] Osteoporosis is a slowly progressing disease resulting from an imbalance between bone accretion and degradation. As interstitial collagenase is a key enzyme in the degradation of bone matrix, we investigated a possible relationship between the collagenase gene and osteoporosis. Analysis of an amplified genomic DNA fragment from -524 to +52 by denaturing gradient gel electrophoresis and sequencing allowed us to detect three dimorphic sites upstream of base -300, one of them leading to a BanI restriction site. None of the sites could be directly associated with osteoporosis. The allele frequencies of the three dimorphic sites were estimated. The interallelic ratios were high, thus providing new useful genetic markers for linkage analysis. When comparing these ratios in osteoporotic and nonosteoporotic subjects, no significant differences could be observed.
Disciplines :
Rheumatology
Author, co-author :
Thiry-Blaise, L. M.
Taquet, A. N.
Reginster, Jean-Yves ; Université de Liège - ULiège > Département des sciences de la santé publique > Epidémiologie et santé publique
Nusgens, Betty ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Protéines et glycoprot. de matr.extracell. et membran.basal.
Franchimont, P.
Lapiere, C. M.
Language :
English
Title :
Investigation of the Relationship between Osteoporosis and the Collagenase Gene by Means of Polymorphism of the 5'upstream Region of This Gene
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Pocock N.A., Eisman J.A., Hopper J., Yeates M., Sambrook P.N., Eberl S. (1987) Genetic determinants of bone mass in adults. J. Clin Invest 80:706-710.
Dequeker J., Nijs J., Verstaeten A., Geusen P., Gevers G. (1987) Genetic determinants of bone mineral content at the spine and radius: a twin study. Bone 8:207-209.
Seeman E., Hopper J.L., Bach L.A., Cooper M.E., Parkinson E., McKay J., Jeru G. (1989) Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 320:554-558.
Kelly P.J., Hopper J.L., Macaskill G.T., Pocock N.A., Sambrook P.N., Eisman J.A. (1991) Genetic factors in bone turnover. J Clin Endocrinol Metab 72:808-813.
Shapiro J.R., Burn V.E., Chipman S.D., Velis K.P., Bansal M. (1989) Osteoporosis and familial idiopathic scoliosis: association with an abnormal alpha 2(1) collagen. Connect Tissue Res 21:117-124.
Spotila L.D., Constantinou C.D., Sereda L., Ganguly A., Riggs B.L., Prockop D.J. (1991) Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci USA 8:5423-5427.
Nicholls A.C., Oliver J., Renouf D.V., Heath D.A., Pope F.M. (1992) The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele. Hum Genet 88:627-633.
Baylink D.J., Finkelmen R.D., Mohan S. (1993) Growth factors to stimulate bone formation. J Bone Miner Res 8:S565-S572.
Canalis E., McCarthy T.L., Centrella M. (1989) The role of growth factors in skeletal remodeling. Endocrinol Metab Clin North Am 18:903-918.
Morrison N.A., Cheng, Tonkita A., Kelly P.J., Crofts L., Ngugen T.V., Sambrook P.N., Eisman J.A. (1994) Prediction of bone density from vitamin D receptor alleles. Lett Nature 367:284-287.
Angel P., Baumann I., Stein B., Delius H., Rahdorf H., Herrlich P. (1987) 12-O-tetradecanoyl-phorbol-13-acetate induction of the human collagenase gene is mediated by an inducible enhancer element located in the 5′-flanking region. Mol Cell Biol 7:2256-2266.
Mauviel A., Chen Y.Q., Dong W., Evans C.H., Uitto J. (1993) Transcriptional interactions of transforming growth-factor-β with pro-inflammatory cytokines. Curr Biol 3:822-831.
Reginster J.Y., Denis D., Deroisy R., Albert A., Sarlet N., Collette J., Franchimont P. (1990) Dual photon absorptiometry of lumbar spine in West European (Belgian) postmenopausal females: normal range and fracture threshold. Clin Rheumat 9:220-224.
Kawasaki E.S. (1990) Sample preparation from blood, cells, and other fluids. PCR protocols: a guide to methods and applications , M.A., Innis, D.H., Gelfland, J.J., Sninsky, T.J., White, Academic Press, San Diego; 146-152.
Myers R.M., Sheffield V.C., Cox D.R. (1988) Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. Genome analysis: a practical approach , K.E., Davies, IRL Press, Oxford; 95-139.
Winship P.R. (1989) An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucl Acid Res 17:1266.
Delaissé J.M., Vaes G. (1992) Mechanism of mineral solubilization and matrix degradation in osteoclastic bone resorption. Biology and physiology of the osteoclast , B.R., Rifkin, C.V., Gay, CRC Press, Boca Raton; 290-314.
Cato A.C.B., König H., Ponta H., Herrlich P. (1992) Steroïds and growth-promoting factors in the regulation of expression of genes and gene networks. J Steroïd Biochem Molec Biol 43:63-68.
Johnson R.S., Spiegelman B.M., Papaioannou V. (1992) Pleiotropic effects of a null mutation in the c-fos Proto-oncogene. Cell 71:577-586.
Manca L., Cocco E., Gallisai D., Masala B., Gilman G.J. (1991) Diminished AgammaT fetal globin levels in Sardinian haplotype II β°. Br J Haematol 78:105-107.
Beldjord C., Ducrocq R., Nadifi S., Lapoumeroulie C., Elion J., Labie D. (1992) A haplotype-linked four base pair deletion upstream of the Agamma globin gene coincides with decreased expression. Hum Genet 89:625-628.
Prockop D.J. (1992) Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 326:540-546.
Colombi M., Gardella R., Zoppi N., Moro L., Marini D., Spurr N.K., Barlati S. (1992) Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia. Hum Genet 89:503-507.
Hovnanian A., Duquesnoy P., Aelem S., Blanchet-Bardon C., Lathrop M., Dubertret L., Goossens M. (1991) Exclusions of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype. J Clin Invest 88:1716-1721.
Angel P., Imagawa M., Chiu R., Stein B., Imbra R.J., Rahdorf H.J., Jonat C., Herrlich P., Karin M. (1987) Phorbol ester-inducible genes contain a common cis element recognized by a TPA-modulated trans-acting factor. Cell 49:729-739.
Gutman A., Wasylyk B. (1990) The collagenase gene promoter contains a TPA and oncogene-responsive unit encompassing the PEA3 and AP-1 binding sites. EMBO J 9:2241-2246.
Similar publications
Sorry the service is unavailable at the moment. Please try again later.
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.