Modifier genes in pseudoxanthoma elasticum: Novel insights from the Ggcx mouse model

Journal of Molecular Medicine

Volumn 88, Issue 2, 2010, Pages 149-153

  Hovnanian, Alain ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Genetics; Mouse model; PXE

Indexed keywords

ATP BINDING CASSETTE SUBGROUP C MEMBER 6; BINDING PROTEIN; FETUIN A; GENE PRODUCT; GLUTATHIONE PEROXIDASE 1; MANGANESE SUPEROXIDE DISMUTASE; MULTIDRUG RESISTANCE PROTEIN 6; OSTEOPONTIN; PROTEIN GGXC; UNCLASSIFIED DRUG; VASCULOTROPIN; VITAMIN K GROUP;

CARBOXYLATION; CLINICAL FEATURE; EDITORIAL; FIBROBLAST; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; INCIDENCE; MINERALIZATION; MORBIDITY; MORTALITY; NONHUMAN; PHENOTYPE; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PSEUDOXANTHOMA ELASTICUM;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CARBON-CARBON LIGASES; DIET; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION; PSEUDOXANTHOMA ELASTICUM; VITAMIN K;

EID: 77951206519     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-009-0576-7     Document Type: Editorial

References (33)

1. Q Li, et al. 2009 Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms Exp Dermatol 18 1 11 10.1111/j.1600-0625.2008.00795.x 19054062
2. O Le Saux, et al. 2000 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum Nat Genet 25 223 227 10.1038/76102 10835642 (Pubitemid 30394998)
3. F Ringpfeil MG Lebwohl AM Christiano J Uitto 2000 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter Proc Natl Acad Sci USA 97 6001 6006 10.1073/pnas.100041297 1:CAS:528:DC%2BD3cXjvFars7k%3D 10811882 (Pubitemid 30367513)
4. O Le Saux, et al. 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum Am J Hum Genet 69 749 764 10.1086/323704 11536079 (Pubitemid 32868520)
5. EG Pfendner, et al. 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum J Med Genet 44 621 628 10.1136/jmg.2007.051094 1:CAS:528:DC%2BD2sXht12rtL7I 17617515 (Pubitemid 47584754)
6. N Chassaing, et al. 2005 Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations J Med Genet 42 881 892 10.1136/jmg.2004.030171 1:CAS:528:DC%2BD28Xkt1Ckug%3D%3D 15894595 (Pubitemid 41811309)
7. F Ringpfeil L Pulkkinen J Uitto 2001 Molecular genetics of pseudoxanthoma elasticum Exp Dermatol 10 221 228 10.1034/j.1600-0625.2001.100401.x 1:CAS:528:DC%2BD3MXmsl2jtLs%3D 11493310 (Pubitemid 32754990)
8. V Schulz, et al. 2006 Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE) Hum Mutat 27 831 10.1002/humu.9444 16835894
9. Y Matsuzaki, et al. 2005 Tissue-specific expression of the ABCC6 gene J Invest Dermatol 125 900 905 1:CAS:528:DC%2BD2MXht1Grtr3M 16297187
10. Q Jiang J Uitto 2006 Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol 126 1440 1441 10.1038/sj.jid.5700267 1:CAS:528: DC%2BD28Xls1Khurg%3D 16778810
11. O Le Saux, et al. 2006 Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro J Invest Dermatol 126 1497 1505 10.1038/sj.jid.5700201 16543900
12. Q Jiang, et al. 2009 Pseudoxanthoma elasticum is a metabolic disease J Invest Dermatol 129 348 354 10.1038/jid.2008.212 1:CAS:528: DC%2BD1MXmt1GrsQ%3D%3D 18685618
13. JF Klement, et al. 2005 Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues Mol Cell Biol 25 8299 8310 10.1128/MCB.25.18.8299-8310.2005 1:CAS:528:DC%2BD2MXhtVWisLrJ 16135817 (Pubitemid 41263018)
14. TG Gorgels, et al. 2005 Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum Hum Mol Genet 14 1763 1773 10.1093/hmg/ddi183 1:CAS:528:DC%2BD2MXmvV2htLs%3D 15888484 (Pubitemid 41418048)
15. Q Li, et al. 2009 Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene Am J Pathol 174 534 540 10.2353/ajpath.2009.080865 1:CAS:528:DC%2BD1MXivVWntrk%3D 19116367
16. F Rongioletti R Bertamino A Rebora 1989 Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors J Am Acad Dermatol 21 1150 1152 10.1016/S0190-9622(89)70320-0 1:STN:280: DyaK3c%2FjslyhsQ%3D%3D 2808851
17. C Le Corvaisier-Pieto, et al. 1996 Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency Ann Dermatol Venereol 123 555 558 9615107
18. OM Vanakker, et al. 2007 Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity J Invest Dermatol 127 581 587 10.1038/sj.jid.5700610 1:CAS:528:DC%2BD2sXhs1Crt70%3D 17110937
19. MJ Shearer 2000 Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification Curr Opin Clin Nutr Metab Care 3 433 438 10.1097/00075197-200011000-00004 1:CAS:528:DC%2BD3MXhtlGmsw%3D%3D 11085828
20. -/-) Biochem Biophys Res Commun 364 208 213 10.1016/j.bbrc.2007.09. 122 1:CAS:528:DC%2BD2sXht1akt7bI 17942075 (Pubitemid 47633403)
21. D Gheduzzi, et al. 2007 Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients Lab Invest 87 998 1008 10.1038/labinvest.3700667 1:CAS:528:DC%2BD2sXhtVCrtLjL 17724449 (Pubitemid 47429193)
22. D Hendig, et al. 2006 Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum Clin Chem 52 227 234 10.1373/clinchem.2005.059253 1:CAS:528:DC%2BD28Xht1Kkurk%3D 16384891 (Pubitemid 43185483)
23. D Hendig, et al. 2007 SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum Clin Chem 53 829 836 10.1373/clinchem.2006.083675 1:CAS:528:DC%2BD2sXltFyqtr8%3D 17384004 (Pubitemid 46744237)
24. S Schon, et al. 2006 Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course J Med Genet 43 745 749 10.1136/jmg.2006.040972 1:STN:280:DC%2BD28rjtlCltQ%3D%3D 16571645 (Pubitemid 44483918)
25. R Zarbock, et al. 2007 Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset Clin Chem 53 1734 1740 10.1373/clinchem.2007.088211 1:CAS:528:DC%2BD2sXhtFKnurbK 17693525 (Pubitemid 47509665)
26. R Zarbock, et al. 2009 Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum Hum Mol Genet 18 3344 3351 10.1093/hmg/ddp259 1:CAS:528: DC%2BD1MXps1ajtr4%3D 19483196
27. -/-) J Invest Dermatol 128 1160 1164 10.1038/sj.jid.5701145 1:CAS:528:DC%2BD1cXksFyhs74%3D 18049453 (Pubitemid 351543194)
28. MJ Shearer P Newman 2008 Metabolism and cell biology of vitamin K Thromb Haemost 100 530 547 1:CAS:528:DC%2BD1cXhtlOgtLzJ 18841274
29. N Hamlin, et al. 2003 Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients Br J Haematol 122 852 854 10.1046/j.1365-2141.2003. 04484.x 1:CAS:528:DC%2BD3sXnvVSqt7s%3D 12930400 (Pubitemid 37100315)
30. E Fabbri GL Forni G Guerrini C Borgna-Pignatti 2009 Pseudoxanthoma elasticum-like syndrome and thalassemia: an update Dermatol Online J 15 7 19903435
31. -/-)) J Invest Dermatol 129 1388 1394 10.1038/jid.2008.391 1:CAS:528:DC%2BD1MXlslGitro%3D 19122649
32. -/- mice: effects of dietary modifications and a phosphate binder-a preliminary study Exp Dermatol 17 203 207 10.1111/j.1600-0625.2007.00645.x 1:CAS:528:DC%2BD1cXjtlensrk%3D 17979973 (Pubitemid 351233865)
33. -/- mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum. J Mol Med (this issue/s00109-009-0522-8)