RRC ID 1433
著者 Tsukamoto H, Horiuchi T, Kokuba H, Nagae S, Nishizaka H, Sawabe T, Harashima S, Himeji D, Koyama T, Otsuka J, Mitoma H, Kimoto Y, Hashimura C, Kitano E, Kitamura H, Furue M, Harada M.
タイトル Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.
ジャーナル Biochem Biophys Res Commun
Abstract A case of inherited homozygous complement C3 deficiency (C3D) in a patient with systemic lupus erythematosus (SLE) and the molecular basis for this deficiency are reported. A 22-year-old Japanese male was diagnosed as having SLE and his medical history revealed recurrent tonsillitis and pneumonia. He was diagnosed as having C3D because of undetectable serum C3 level. His parents were consanguineous. Sequence analysis of C3D cDNA revealed a homozygous deletion of exon 39 (84bp). A single base substitution (AG to GG) in the 3'-splice acceptor site of intron 38 was identified by sequencing the genomic DNA. Expression of C3Delta(ex39) cDNA, the C3cDNA lacking exon 39, in COS-7 cells revealed that C3Delta(ex39) was retained in endoplasmic reticulum-Golgi intermediate compartment because of defective secretion. These data indicate that a novel AG-->GG 3'-splice acceptor site mutation in intron 38 caused aberrant splicing of exon 39, resulting in defective secretion of C3.
巻・号 330(1)
ページ 298-304
公開日 2005-4-29
DOI 10.1016/j.bbrc.2005.02.159
PII S0006-291X(05)00433-X
PMID 15781264
MeSH Adult Animals Base Sequence COS Cells Complement C3 / deficiency* Complement C3 / genetics DNA Primers Fluorescent Antibody Technique Humans Lupus Erythematosus, Systemic / genetics* Male RNA, Messenger / genetics Reverse Transcriptase Polymerase Chain Reaction
IF 2.985
引用数 17
WOS 分野 BIOPHYSICS BIOCHEMISTRY & MOLECULAR BIOLOGY
リソース情報
ヒト・動物細胞 NHSF46(RCB0162)