ABCMdb

PMID: 18936737

Hendig D, Langmann T, Kocken S, Zarbock R, Szliska C, Schmitz G, Kleesiek K, Gotting C
Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis.
Lab Invest. 2008 Dec;88(12):1303-15. Epub 2008 Oct 20., [PubMed]

Sentences

No. Mutations Sentence Comment

62 ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg518* ABCC6 p.Gln378* ABCC6 p.Arg391Gly ABCC6 p.Met751Lys ABCB1 p.Phe37Ala ABCC1 p.Phe52Cys ABCA10 p.Pro265Phe Table 1 Main characteristics of dermal fibroblasts derived from PXE patients and healthy controls used in the present study Sample ID Gender Agea Biopsy source ABCC6 genotypeb Statusc Age at disease onseta Number of involved organs PXE patients P60F Female 58 Axilla c.37-1G4A (SSM) c.37-1G4A (SSM) hm 56 3 P229F Female 50 NA c.1171A4G (p.R391G) c.1208C4A (p.A413N) c.2252T4A (p.M751K) cht NA NA P265F Female 62 Cervix c.1132C4T (p.Q378X) c.3421C4T (p.R1141X) cht 16 3 P3M Male 57 Cervix c.3421C4T (p.R1141X) c.3883-6G4A (SSM) cht 46 5 P128M Male 51 Cervix c.3769_3770insC (p.L1259fsX1277) c.3769_3770insC (p.L1259fsX1277) hm 48 3 P308M Male 42 NA c.3421C4T (p.R1141X) c.-90ins14 (c)ht NA NA P341M Male 41 NA c.1552C4T (p.R518X) ND ht NA NA Healthy controls F37A Female 37 Abdomen - - - wt - - F42A Female 42 Abdomen - - - wt - - F52C Female 52 Cheek - - - wt - - M2FS Male 2 Foreskin - - - wt - - M45D Male 45 Face - - - wt - - M56D Male 56 Face - - - wt - - hm, homozygote; cht, compound heterozygote; ht, heterozygote; wt, wild type; SSM, splice site mutation; NA, not applicable; ND, nondetected. Login to comment 100 ABCB2 p.Pro60Phe Samples of patient P60F were exchanged with samples of patient P308M in this analysis, due to a lack of material. Login to comment 123 ABCB3 p.Pro265Phe No ABCC6 transcripts were quantifiable in patients P265F, P3M, P128M and P341M (Figure 1c). Login to comment 153 ABCA10 p.Pro265Phe We performed the same experiments with ABCC6/MRP6-deficient cells from PXE patients P265F and P128M (Table 1). Login to comment 173 ABCC6 p.Arg1268Gln It is mainly involved in HDL biosynthesis and cholesterol efflux.39,40 Polymorphisms in the ABCA1 were associated with cardiovascular disease and low plasma HDL levels.41-43 Wang et al previously reported that plasma HDL concentrations varied in a PXE patient and carriers of the ABCC6/MRP6 polymorphisms p.R1268Q.44 Furthermore, abcc6 knockout mice developed a 25% reduction in plasma HDL cholesterol.8 ABCA3 is a regulator of lamellar body metabolism and was reported to form lipid containing vesicles in human embryonic kidney cells.45 Little is known about the physiological function of the ABCA6-like transporters including ABCA6, ABCA9, ABCA10. Login to comment 305 ABCC6 p.Arg1141* Hu X, Peek R, Plomp A, et al. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Login to comment