Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus

Hiroshi Tsukamoto, Takahiko Horiuchi, Hisashi Kokuba, Shonosuke Nagae, Hiroaki Nishizaka, Takuya Sawabe, Shin Ichi Harashima, Daisuke Himeji, Takako Koyama, Junji Otsuka, Hiroki Mitoma, yasutaka kimoto, Chinami Hashimura, Etsuko Kitano, Hajime Kitamura, Masutaka Furue, Mine Harada

研究成果: ジャーナルへの寄稿記事

20 引用 (Scopus)

抄録

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 (84 bp). 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 C3Δ(ex39) cDNA, the C3cDNA lacking exon 39, in COS-7 cells revealed that C3Δ(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.

元の言語英語
ページ(範囲)298-304
ページ数7
ジャーナルBiochemical and Biophysical Research Communications
330
発行部数1
DOI
出版物ステータス出版済み - 4 29 2005

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RNA Splice Sites
Systemic Lupus Erythematosus
Exons
Introns
Complementary DNA
Complement C3
Tonsillitis
COS Cells
Substitution reactions
DNA Sequence Analysis
Endoplasmic Reticulum
Sequence Analysis
Pneumonia
Parents
DNA
Mutation
Serum

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

これを引用

Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. / Tsukamoto, Hiroshi; Horiuchi, Takahiko; Kokuba, Hisashi; Nagae, Shonosuke; Nishizaka, Hiroaki; Sawabe, Takuya; Harashima, Shin Ichi; Himeji, Daisuke; Koyama, Takako; Otsuka, Junji; Mitoma, Hiroki; kimoto, yasutaka; Hashimura, Chinami; Kitano, Etsuko; Kitamura, Hajime; Furue, Masutaka; Harada, Mine.

:: Biochemical and Biophysical Research Communications, 巻 330, 番号 1, 29.04.2005, p. 298-304.

研究成果: ジャーナルへの寄稿記事

Tsukamoto, H, Horiuchi, T, Kokuba, H, Nagae, S, Nishizaka, H, Sawabe, T, Harashima, SI, Himeji, D, Koyama, T, Otsuka, J, Mitoma, H, kimoto, Y, Hashimura, C, Kitano, E, Kitamura, H, Furue, M & Harada, M 2005, 'Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus', Biochemical and Biophysical Research Communications, 巻. 330, 番号 1, pp. 298-304. https://doi.org/10.1016/j.bbrc.2005.02.159
Tsukamoto, Hiroshi ; Horiuchi, Takahiko ; Kokuba, Hisashi ; Nagae, Shonosuke ; Nishizaka, Hiroaki ; Sawabe, Takuya ; Harashima, Shin Ichi ; Himeji, Daisuke ; Koyama, Takako ; Otsuka, Junji ; Mitoma, Hiroki ; kimoto, yasutaka ; Hashimura, Chinami ; Kitano, Etsuko ; Kitamura, Hajime ; Furue, Masutaka ; Harada, Mine. / Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. :: Biochemical and Biophysical Research Communications. 2005 ; 巻 330, 番号 1. pp. 298-304.
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AU - kimoto, yasutaka

AU - Hashimura, Chinami

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AU - Harada, Mine

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