68
Views
166
CrossRef citations to date
0
Altmetric
Mammalian Genetic Models with Minimal or Complex Phenotypes

Targeted Ablation of the Abcc6 Gene Results in Ectopic Mineralization of Connective Tissues

, , , , , , , , , & show all
Pages 8299-8310 | Received 30 Mar 2005, Accepted 17 Jun 2005, Published online: 27 Mar 2023

REFERENCES

  • Abbondanzo, S. J., I. Gadi, and C. L. Stewart. 1993. Derivation of embryonic stem cell lines. Methods Enzymol. 225:803–823.
  • Annilo, T., and M. Dean. 2004. Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages. Genomics 84:34–46.
  • AVMA Panel on Euthanasia. American Veterinary Medical Association. 2001. 2000 Report of the AVMA Panel on Euthanasia. J. Am. Vet. Med. Assoc. 218:669–696.
  • Beck, K., K. Hayashi, B. Nishiguchi, O. Le Saux, M. Hayashi, and C. D. Boyd. 2003. The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter. J. Histochem. Cytochem. 51:887–902.
  • Belinsky, M. G., Z. S. Chen, I. Shchaveleva, H. Zeng, and G. D. Kruh. 2002. Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6). Cancer Res. 62:6172–6177.
  • Belinsky, M. G., and G. D. Kruh. 1999. MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br. J. Cancer 80:1342–1349.
  • Bienengraeber, M., T. M. Olson, V. A. Selivanov, E. C. Kathmann, F. O'Cochlain, F. Gao, A. B. Karger, J. D. Ballew, D. M. Hodgson, L. V. Zingman, Y. P. Pang, A. E. Alekseev, and A. Terzic. 2004. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat. Genet. 36:382–387.
  • Birk, D. E., and R. L. Trelstad. 1986. Extracellular compartments in tendon morphogenesis: collagen fibril, bundle, and macroaggregate formation. J. Cell Biol. 103:231–240.
  • Borst, P., R. Evers, M. Kool, and J. Wijnholds. 1999. The multidrug resistance protein family. Biochim. Biophys. Acta 1461:347–357.
  • Chassaing, N., L. Martin, J. Mazereeuw, L. Barrie, S. Nizard, J. L. Bonafe, P. Calvas, and A. Hovnanian. 2004. Novel ABCC6 mutations in pseudoxanthoma elasticum. J. Investig. Dermatol. 122:608–613.
  • Chutkow, W. A., V. Samuel, P. A. Hansen, J. Pu, C. R. Valdivia, J. C. Makielski, and C. F. Burant. 2001. Disruption of Sur2-containing K(ATP) channels enhances insulin-stimulated glucose uptake in skeletal muscle. Proc. Natl. Acad. Sci. USA 98:11760–11764.
  • Crespi, G., L. E. Derchi, and S. Saffioti. 1992. Sonographic detection of renal changes in pseudoxanthoma elasticum. Urol. Radiol. 13:223–225.
  • Dean, M., Y. Hamon, and G. Chimini. 2001. The human ATP-binding cassette (ABC) transporter superfamily. J. Lipid Res. 42:1007–1017.
  • Dean, M., A. Rzhetsky, and R. Allikmets. 2001. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 11:1156–1166.
  • Domjan, J. M., and K. C. Dewbury. 1996. Case report: multiple highly reflective foci in the renal parenchyma are not specific for pseudoxanthoma elasticum. Br. J. Radiol. 69:871–872.
  • Eng, A. M., and J. Bryant. 1975. Clinical pathologic observations in pseudoxanthoma elasticum. Int. J. Dermatol. 14:586–605.
  • Gheduzzi, D., R. Guidetti, C. Anzivino, P. Tarugi, E. Di Leo, D. Quaglino, and I. P. Ronchetti. 2004. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum. Mutat. 24:438–439.
  • Gheduzzi, D., R. Sammarco, D. Quaglino, L. Bercovitch, S. Terry, W. Taylor, and I. P. Ronchetti. 2003. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct. Pathol. 27:375–384.
  • Grubb, B. R., and R. C. Boucher. 1999. Pathophysiology of gene-targeted mouse models for cystic fibrosis. Physiol. Rev. 79:S193–214.
  • Hausser, I., and I. Anton-Lamprecht. 1991. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. Hum. Genet. 87:693–700.
  • Homolya, L., A. Varadi, and B. Sarkadi. 2003. Multidrug resistance-associated proteins: Export pumps for conjugates with glutathione, glucuronate or sulfate. Biofactors 17:103–114.
  • Huopio, H., T. Otonkoski, I. Vauhkonen, F. Reimann, F. M. Ashcroft, and M. Laakso. 2003. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 361:301–307.
  • Huopio, H., F. Reimann, R. Ashfield, J. Komulainen, H. L. Lenko, J. Rahier, I. Vauhkonen, J. Kere, M. Laakso, F. Ashcroft, and T. Otonkoski. 2000. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J. Clin. Investig. 106:897–906.
  • Ilias, A., Z. Urban, T. L. Seidl, O. Le Saux, E. Sinko, C. D. Boyd, B. Sarkadi, and A. Varadi. 2002. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J. Biol. Chem. 277:16860–16867.
  • Jansen, P. L., W. H. Peters, and W. H. Lamers. 1985. Hereditary chronic conjugated hyperbilirubinemia in mutant rats caused by defective hepatic anion transport. Hepatology 5:573–579.
  • Johnston, K. J., A. I. Oikarinen, N. J. Lowe, J. G. Clark, and J. Uitto. 1984. Ultraviolet radiation-induced connective tissue changes in the skin of hairless mice. J. Investig. Dermatol. 82:587–590.
  • Kruh, G. D., and M. G. Belinsky. 2003. The MRP family of drug efflux pumps. Oncogene 22:7537–7552.
  • Kwee, L., H. S. Baldwin, H. M. Shen, C. L. Stewart, C. Buck, C. A. Buck, and M. A. Labow. 1995. Defective development of the embryonic and extraembryonic circulatory systems in vascular cell adhesion molecule (VCAM-1) deficient mice. Development 121:489–503.
  • Le Saux, O., K. Beck, C. Sachsinger, C. Silvestri, C. Treiber, H. H. Goring, E. W. Johnson, A. De Paepe, F. M. Pope, I. Pasquali-Ronchetti, L. Bercovitch, A. S. Marais, D. L. Viljoen, S. F. Terry, and C. D. Boyd. 2001. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69:749–764.
  • Lorico, A., G. Rappa, R. A. Finch, D. Yang, R. A. Flavell, and A. C. Sartorelli. 1997. Disruption of the murine MRP (multidrug resistance protein) gene leads to increased sensitivity to etoposide (VP-16) and increased levels of glutathione. Cancer Res. 57:5238–5242.
  • Madon, J., B. Hagenbuch, L. Landmann, P. J. Meier, and B. Stieger. 2000. Transport function and hepatocellular localization of mrp6 in rat liver. Mol. Pharmacol. 57:634–641.
  • Neldner, K. H. 1988. Pseudoxanthoma elasticum. Clin. Dermatol. 6:1–159.
  • Nickoloff, B. J., F. R. Noodleman, and E. A. Abel. 1985. Perforating pseudoxanthoma elasticum associated with chronic renal failure and hemodialysis. Arch. Dermatol. 121:1321–1322.
  • Niizuma, K. 1983. Pseudoxanthoma elasticum-a fresh approach to morphogenesis using tannic acid fixation. Tokai J. Exp. Clin. Med. 8:79–88.
  • Nikko, A. P., M. Dunningan, and C. J. Cockerell. 1996. Calciphylaxis with histologic changes of pseudoxanthoma elasticum. Am. J. Dermatopathol. 18:396–399.
  • Paulusma, C. C., P. J. Bosma, G. J. Zaman, C. T. Bakker, M. Otter, G. L. Scheffer, R. J. Scheper, P. Borst, and R. P. Oude Elferink. 1996. Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271:1126–1128.
  • Proks, P., F. Reimann, N. Green, F. Gribble, and F. Ashcroft. 2002. Sulfonylurea stimulation of insulin secretion. Diabetes 51(Suppl. 3):S368–S376.
  • Pulkkinen, L., F. Ringpfeil, and J. Uitto. 2002. Progress in heritable skin diseases: molecular bases and clinical implications. J. Am. Acad. Dermatol. 47:91–104.
  • Quinton, P. M. 1999. Physiological basis of cystic fibrosis: a historical perspective. Physiol. Rev. 79:S3–S22.
  • Relyea, M. J., J. Miller, D. Boggess, and J. P. Sundberg. 2000. Necropsy methods for laboratory mice: biological characterization of a new mutation, p. 57–90. In J. P. Sundberg and D. Boggess (ed.), Systematic approach to evaluation of mouse mutations. CRC Press, New York, N.Y.
  • Ringpfeil, F., A. Nakano, J. Uitto, and L. Pulkkinen. 2001. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am. J. Hum. Genet. 68:642–652.
  • Ringpfeil, F., L. Pulkkinen, and J. Uitto. 2001. Molecular genetics of pseudoxanthoma elasticum. Exp. Dermatol. 10:221–228.
  • Rychlik, W. 1993. Selection of primers for polymerase chain reaction, p. 31–40. In B. A. White (ed.), PCR protocols: current methods and applications. Humana Press, Totowa, N.J.
  • Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
  • Sampath, J., M. Adachi, S. Hatse, L. Naesens, J. Balzarini, R. M. Flatley, L. H. Matherly, and J. D. Schuetz. 2002. Role of MRP4 and MRP5 in biology and chemotherapy. AAPS Pharm. Sci. 4:E14.
  • Sapadin, A. N., M. G. Lebwohl, S. A. Teich, R. G. Phelps, D. DiCostanzo, and S. R. Cohen. 1998. Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks-apparent regression with hemodialysis. J. Am. Acad. Dermatol. 39:338–344.
  • Scheffer, G. L., X. Hu, A. C. Pijnenborg, J. Wijnholds, A. A. Bergen, and R. J. Scheper. 2002. MRP6 (ABCC6) detection in normal human tissues and tumors. Lab. Investig. 82:515–518.
  • Secretan, M., L. Zografos, D. Guggisberg, and B. Piguet. 1998. Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum. Arch. Ophthalmol. 116:1333–1336.
  • Seghers, V., M. Nakazaki, F. DeMayo, L. Aguilar-Bryan, and J. Bryan. 2000. Sur1 knockout mice: a model for K(ATP) channel-independent regulation of insulin secretion. J. Biol. Chem. 275:9270–9277.
  • Sheehan, D. C., and B. B. Hrapchak. 1980. Theory and practice of histotechnology. Mosby, St. Louis, MO.
  • Shimizu, H., H. Taniguchi, Y. Hippo, Y. Hayashizaki, H. Aburatani, and T. Ishikawa. 2003. Characterization of the mouse Abcc12 gene and its transcript encoding an ATP-binding cassette transporter, an orthologue of human ABCC12. Gene 310:17–28.
  • Shiota, C., O. Larsson, K. D. Shelton, M. Shiota, A. M. Efanov, M. Hoy, J. Lindner, S. Kooptiwut, L. Juntti-Berggren, J. Gromada, P. O. Berggren, and M. A. Magnuson. 2002. Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose. J. Biol. Chem. 277:37176–37183.
  • Southern, E. M. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98:503–517.
  • Stewart, C. L. 1993. Production of chimeras between embryonic stem cells and embryos. Methods Enzymol. 225:823–855.
  • Suarez, M. J., J. B. Garcia, M. Orense, E. Raimunde, M. V. Lopez, and O. Fernandez. 1991. Sonographic aspects of pseudoxanthoma elasticum. Pediatr. Radiol. 21:538–539.
  • Sundberg, J. P., and L. E. King. 2000. Skin and its appendages: normal anatomy and pathology of spontaneous, transgenic, and targeted mouse mutations, p. 181–213. In J. Ward, J. F. Mahler, R. R. Maronpot, and J. P. Sundberg (ed.), Pathology of genetically engineered mice. Iowa State University Press, Ames, Iowa.
  • Sundberg, J. P., and L. E. King, Jr. 1996. Mouse mutations as animal models and biomedical tools for dermatological research. J. Investig. Dermatol. 106:368–376.
  • Tammur, J., C. Prades, I. Arnould, A. Rzhetsky, A. Hutchinson, M. Adachi, J. D. Schuetz, K. J. Swoboda, L. J. Ptacek, M. Rosier, M. Dean, and R. Allikmets. 2001. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. Gene 273:89–96.
  • Trip, M. D., Y. M. Smulders, J. J. Wegman, X. Hu, J. M. Boer, J. B. ten Brink, A. H. Zwinderman, J. J. Kastelein, E. J. Feskens, and A. A. Bergen. 2002. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 106:773–775.
  • Tybulewicz, V. L., C. E. Crawford, P. K. Jackson, R. T. Bronson, and R. C. Mulligan. 1991. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65:1153–1163.
  • Uitto, J., and L. Pulkkinen. 2002. Heritable diseases affecting the elastic tissues: cutis laxa, pseudoxanthoma elasticum, and related disorders, p. 4044–4068. In D. L. Rimoin, J. M. Connor, R. Pyeritz and B. R. Korf (ed.), Emery and Rimoin's principles and practice of medical genetics. Churchill Livingstone, New York, N.Y.
  • Uitto, J., L. Pulkkinen, and F. Ringpfeil. 2001. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface. Trends Mol. Med. 7:13–17.
  • Wijnholds, J., R. Evers, M. R. van Leusden, C. A. Mol, G. J. Zaman, U. Mayer, J. H. Beijnen, M. van der Valk, P. Krimpenfort, and P. Borst. 1997. Increased sensitivity to anticancer drugs and decreased inflammatory response in mice lacking the multidrug resistance-associated protein. Nat. Med. 3:1275–1279.
  • Yabuuchi, H., S. Takayanagi, K. Yoshinaga, N. Taniguchi, H. Aburatani, and T. Ishikawa. 2002. ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver. Biochem. Biophys. Res. Commun. 299:410–417.
  • Yap, E. Y., M. S. Gleaton, and H. Buettner. 1992. Visual loss associated with pseudoxanthoma elasticum. Retina 12:315–319.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.