Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America.
PLoS Genet. 2014 Jan;10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23.
Mutations in the genes encoding cartilage associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1 encoded by LEPRE1) were the first identified causes of recessive Osteogenesis Imperfecta (OI). These proteins, together with cyclophilin B (encoded by PPIB), form a complex that 3-hydroxylates a single proline residue on the α1(I) chain (Pro986) and has cis/trans isomerase (PPIase) activity essential for proper collagen folding. Recent data suggest that prolyl 3-hydroxylation of Pro986 is not required for the structural stability of collagen; however, the absence of this post-translational modification may disrupt protein-protein interactions integral for proper collagen folding and lead to collagen over-modification. P3H1 and CRTAP stabilize each other and absence of one results in degradation of the other. Hence, hypomorphic or loss of function mutations of either gene cause loss of the whole complex and its associated functions. The relative contribution of losing this complex's 3-hydroxylation versus PPIase and collagen chaperone activities to the phenotype of recessive OI is unknown. To distinguish between these functions, we generated knock-in mice carrying a single amino acid substitution in the catalytic site of P3h1 (Lepre1(H662A) ). This substitution abolished P3h1 activity but retained ability to form a complex with Crtap and thus the collagen chaperone function. Knock-in mice showed absence of prolyl 3-hydroxylation at Pro986 of the α1(I) and α1(II) collagen chains but no significant over-modification at other collagen residues. They were normal in appearance, had no growth defects and normal cartilage growth plate histology but showed decreased trabecular bone mass. This new mouse model recapitulates elements of the bone phenotype of OI but not the cartilage and growth phenotypes caused by loss of the prolyl 3-hydroxylation complex. Our observations suggest differential tissue consequences due to selective inactivation of P3H1 hydroxylase activity versus complete ablation of the prolyl 3-hydroxylation complex.
编码软骨相关蛋白(CRTAP)和脯氨酰 3-羟化酶 1(由 LEPRE1 编码的 P3H1)的基因突变是隐性成骨不全症(OI)的首批确定病因。这些蛋白质与亲环素 B(由 PPIB 编码)一起形成一个复合物,该复合物使α1(I)链上的单个脯氨酸残基(Pro986)发生 3-羟化,并具有必需的顺/反式异构酶(PPIase)活性,以确保胶原正确折叠。最近的数据表明,Pro986 的脯氨酰 3-羟化对于胶原的结构稳定性不是必需的;然而,这种翻译后修饰的缺失可能会破坏对胶原正确折叠至关重要的蛋白质-蛋白质相互作用,并导致胶原过度修饰。P3H1 和 CRTAP 相互稳定,缺失任何一个都会导致另一个的降解。因此,任一基因的低功能或功能丧失突变都会导致整个复合物及其相关功能的丧失。失去该复合物的 3-羟化作用与 PPIase 和胶原伴侣活性对隐性 OI 表型的相对贡献尚不清楚。为了区分这些功能,我们生成了携带 P3h1 催化位点单个氨基酸取代的基因敲入小鼠(Lepre1(H662A))。该取代消除了 P3h1 的活性,但保留了与 Crtap 形成复合物的能力,从而保留了胶原伴侣的功能。基因敲入小鼠显示α1(I)和α1(II)胶原链上 Pro986 的脯氨酰 3-羟化缺失,但其他胶原残基无明显过度修饰。它们外观正常,无生长缺陷和正常的软骨生长板组织学,但表现出小梁骨量减少。这种新的小鼠模型再现了 OI 骨表型的部分特征,但未再现由脯氨酰 3-羟化复合物缺失引起的软骨和生长表型。我们的观察结果表明,由于 P3H1 羟化酶活性的选择性失活与脯氨酰 3-羟化复合物的完全缺失,导致组织产生不同的后果。