ABCMdb

PMID: 12401893

Wellington CL, Yang YZ, Zhou S, Clee SM, Tan B, Hirano K, Zwarts K, Kwok A, Gelfer A, Marcil M, Newman S, Roomp K, Singaraja R, Collins J, Zhang LH, Groen AK, Hovingh K, Brownlie A, Tafuri S, Genest J Jr, Kastelein JJ, Hayden MR
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.
J Lipid Res. 2002 Nov;43(11):1939-49., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCA1 p.Arg1851* One new heterozygous subject is included in this study who is from a new TD kindred ( JP2) and contains the truncation mutation R1851X (13). Login to comment 131 ABCA1 p.Cys1477Arg ABCA1 p.Cys1477Arg ABCA1 p.Arg909* ABCA1 p.Met1091Thr ABCA1 p.Arg2144* Expression data by mutation Family Mutation Proteinc Induced/Uninduced HDL-C Net Effluxd mmol/l % of control FHA1 Del L 693 5.95 (0.82) 0.4 79.47 (22.63) FHA2 R2144X 2.45 (0.19) 0.18 64.01 (11.12) FHA3 Del E,D 1893, 1894 7.82 (1.48) 0.39 60.03 (11.85) FHA4 R909X 2.32 (0.52) 0.18 72.28 (18.01) FHA5 M1091T 6.42 (0.29) 0.1 47.24 (3.79) TD1 ivs2511G-C, C1477R 3.46 (0.50) 0.1 2.73 (1.05) TD1-ha C1477R 10.28 (1.07) 0.9 58.14 (5.49) TD3 GG 5277C - 1636 2.89 (0.59) 0.09 23.3 (1.29) TD3-hb T9291 6.65 (0.10) 1.12 51.8 (1.30) TD4 Del C 6825 - 2145X, unidentified 1.14 (0.13) 0.03 17.22 (0) Control None 11.31 (0.68) 1.63 100.00 (7.09) a TD1-h is the heterozygous parent of the TD1 proband. Login to comment 163 ABCA1 p.Arg1851* Coexpression of FLAG-tagged ABCA1 truncated at amino acid 1851 (R1851X) significantly inhibited efflux compared with cells transfected with a single copy of wild-type ABCA1 (P Ͻ 0.001, n ϭ 3, Fig. 5B). Login to comment 164 ABCA1 p.Arg1851* ABCA1 p.Asn1611Asp Finally, cells were cotransfected with Xpress-tagged wild-type and FLAG-tagged missense ABCA1 (N1611D). Login to comment 165 ABCA1 p.Asn1611Asp Finally, cells were cotransfected with Xpress-tagged wild-type and FLAG-tagged missense ABCA1 (N1611D). Login to comment 196 ABCA1 p.Arg1851* ABCA1 p.Arg1851* ABCA1 p.Asn1611Asp ABCA1 p.Asn1611Asp Cos-7 cells were transfected singly with vector (mock), Xpress-tagged wild-type human ABCA1 cDNA (WT/Xpress), or cotransfected with FLAG-tagged wild-type ABCA1 (WT/Xpress ϩ WT/FLAG), FLAG-tagged ABCA1 containing the N1611D mutation (WT/Xpress ϩ N1611D/FLAG), or with FLAG-tagged ABCA1 containing the R1851X mutation (WT/Xpress ϩ R1851X/FLAG). Login to comment 197 ABCA1 p.Arg1851* ABCA1 p.Arg1851* ABCA1 p.Asn1611Asp ABCA1 p.Asn1611Asp Cos-7 cells were transfected singly with vector (mock), Xpress-tagged wild-type human ABCA1 cDNA (WT/Xpress), or cotransfected with FLAG-tagged wild-type ABCA1 (WT/Xpress WT/FLAG), FLAG-tagged ABCA1 containing the N1611D mutation (WT/Xpress N1611D/FLAG), or with FLAG-tagged ABCA1 containing the R1851X mutation (WT/Xpress R1851X/FLAG). Login to comment