The Amino Acid Sequence of a Monoclonal γ3‐Heavy Chain from a Patient with Articular γ‐Heavy Chain Deposition Disease
The Amino Acid Sequence of a Monoclonal γ3‐Heavy Chain from a Patient with Articular γ‐Heavy Chain Deposition Disease
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来自关节 γ-重链沉积病患者的单克隆 γ3-重链的氨基酸序列
DOI：
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发表时间：
2000
影响因子：
3.7
通讯作者：
Husby
中科院分区：
文献类型：
--
作者：
Danevad;Sletten;Gaarder;Mellbye;Husby
蛋白质（包括单克隆免疫球蛋白γ-重链）的异常沉积可能导致组织损伤和器官功能障碍。我们在此报告了第一例报告病例（患者G. L.）的范围内。滑液重链沉积病该蛋白质被严重缺失，除了CH 2和CH 3结构域之外，还由铰链组成，呈二聚体形式，因此缺乏其可变结构域以及CH 1结构域。该序列与γ3亚类（γ3GL）一致。Gm分型结果表明，γ3 GL的G3 m（b 0）和G3 m（b1）与γ 3 GL的Pro 123、Phe 128、Thr 171和Phe 268残基相一致。此外，γ3GL分子在位置129的Asn处被糖基化。最后，发现γ3GL蛋白含有第一补体成分C1 q的典型结合位点，即残基Glu 150、Lys 152和Lys 154，具有结合和激活补体的潜力，在沉积后引起组织损伤。
Abnormal deposition of proteins, including monoclonal immunoglobulin γ‐heavy chains, may cause tissue damage and organ dysfunction. We here report the amino acid sequence of the free γ‐heavy chains present in serum and urine of the first reported case (patient G. L.) of synovial heavy chain deposition disease. The protein was heavily deleted and consisted of the hinge, in addition to the CH2 and CH3 domains, in a dimeric form, thus lacking its variable domain as well as the CH1 domain. The sequence was consistent with the γ3 subclass (γ3GL). Gm typing revealed the γ3 allotypes G3m(b0) and G3m(b1) in accordance with the residues Pro123, Phe128, Thr171 and Phe268 in γ3GL. Furthermore, the γ3GL molecule was glycosylated at Asn in position 129. Finally, the γ3GL protein was shown to contain a typical binding site for the first complement component, C1q, namely the residues Glu150, Lys152 and Lys154, with the potential of binding and activating complement, causing tissue damage following deposition.
DOI：
10.1172/jci113722
发表时间：
1988
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Alexander,A;Anicito,I;Buxbaum,J
通讯作者：
Buxbaum,J
DOI：
10.1073/pnas.79.10.3260
发表时间：
1982-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
ALEXANDER, A;STEINMETZ, M;BUXBAUM, JN
通讯作者：
BUXBAUM, JN
免疫球蛋白沉积疾病的生物学和治疗。
DOI：
10.1016/s0889-8588(05)70417-2
发表时间：
1997
期刊：
Hematology/oncology clinics of North America
影响因子：
--
作者：
Dhodapkar,MV;Merlini,G;Solomon,A
通讯作者：
Solomon,A