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在隐性成骨不全的亲环素B基因敲除小鼠模型中,I型胶原蛋白的异常翻译后修饰和交联

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

作者信息

Cabral Wayne A, Perdivara Irina, Weis MaryAnn, Terajima Masahiko, Blissett Angela R, Chang Weizhong, Perosky Joseph E, Makareeva Elena N, Mertz Edward L, Leikin Sergey, Tomer Kenneth B, Kozloff Kenneth M, Eyre David R, Yamauchi Mitsuo, Marini Joan C

机构信息

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America.

Laboratory of Structural Biology, NIEHS, NIH, Research Triangle Park, North Carolina, United States of America.

出版信息

PLoS Genet. 2014 Jun 26;10(6):e1004465. doi: 10.1371/journal.pgen.1004465. eCollection 2014 Jun.

Abstract

Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause recessively inherited osteogenesis imperfecta type IX, a moderately severe to lethal bone dysplasia. To investigate the role of CyPB in collagen folding and post-translational modifications, we generated Ppib-/- mice that recapitulate the OI phenotype. Knock-out (KO) mice are small, with reduced femoral areal bone mineral density (aBMD), bone volume per total volume (BV/TV) and mechanical properties, as well as increased femoral brittleness. Ppib transcripts are absent in skin, fibroblasts, femora and calvarial osteoblasts, and CyPB is absent from KO osteoblasts and fibroblasts on western blots. Only residual (2-11%) collagen prolyl 3-hydroxylation is detectable in KO cells and tissues. Collagen folds more slowly in the absence of CyPB, supporting its rate-limiting role in folding. However, treatment of KO cells with cyclosporine A causes further delay in folding, indicating the potential existence of another collagen PPIase. We confirmed and extended the reported role of CyPB in supporting collagen lysyl hydroxylase (LH1) activity. Ppib-/- fibroblast and osteoblast collagen has normal total lysyl hydroxylation, while increased collagen diglycosylation is observed. Liquid chromatography/mass spectrometry (LC/MS) analysis of bone and osteoblast type I collagen revealed site-specific alterations of helical lysine hydroxylation, in particular, significantly reduced hydroxylation of helical crosslinking residue K87. Consequently, underhydroxylated forms of di- and trivalent crosslinks are strikingly increased in KO bone, leading to increased total crosslinks and decreased helical hydroxylysine- to lysine-derived crosslink ratios. The altered crosslink pattern was associated with decreased collagen deposition into matrix in culture, altered fibril structure in tissue, and reduced bone strength. These studies demonstrate novel consequences of the indirect regulatory effect of CyPB on collagen hydroxylation, impacting collagen glycosylation, crosslinking and fibrillogenesis, which contribute to maintaining bone mechanical properties.

摘要

亲环素B(CyPB)由PPIB编码,是一种驻留在内质网的肽基脯氨酰顺反异构酶(PPIase),其既能独立发挥作用,也是胶原蛋白脯氨酰3-羟基化复合物的一个组成部分。据推测,CyPB是催化胶原蛋白折叠限速步骤的主要PPIase。PPIB突变会导致隐性遗传的IX型成骨不全症,这是一种从中度严重到致命的骨发育不良疾病。为了研究CyPB在胶原蛋白折叠和翻译后修饰中的作用,我们培育出了重现OI表型的Ppib-/-小鼠。基因敲除(KO)小鼠体型较小,股骨骨矿物质密度(aBMD)、骨体积占总体积的比例(BV/TV)以及力学性能均降低,同时股骨脆性增加。在皮肤、成纤维细胞、股骨和颅骨成骨细胞中未检测到Ppib转录本,在western印迹中KO成骨细胞和成纤维细胞中也未检测到CyPB。在KO细胞和组织中仅能检测到残留的(2 - 11%)胶原蛋白脯氨酰3-羟基化。在没有CyPB的情况下,胶原蛋白折叠更慢,这支持了其在折叠过程中的限速作用。然而,用环孢素A处理KO细胞会导致折叠进一步延迟,这表明可能存在另一种胶原蛋白PPIase。我们证实并扩展了关于CyPB在支持胶原蛋白赖氨酰羟化酶(LH1)活性方面的报道作用。Ppib-/-成纤维细胞和成骨细胞胶原蛋白的总赖氨酰羟化正常,但观察到胶原蛋白双糖基化增加。对骨和I型成骨细胞胶原蛋白进行液相色谱/质谱(LC/MS)分析发现螺旋赖氨酸羟化存在位点特异性改变,特别是螺旋交联残基K87的羟化显著降低。因此,KO骨中二价和三价交联的羟化不足形式显著增加,导致总交联增加,螺旋羟赖氨酸与赖氨酸衍生交联的比例降低。交联模式的改变与培养物中胶原蛋白沉积到基质减少、组织中纤维结构改变以及骨强度降低有关。这些研究证明了CyPB对胶原蛋白羟化的间接调节作用所产生的新后果,影响胶原蛋白糖基化、交联和纤维形成,这有助于维持骨的力学性能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c35/4072593/3a8d674e92e7/pgen.1004465.g001.jpg

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