Role of cartilage-associated protein in skeletal development.
Role of cartilage-associated protein in skeletal development.
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DOI：
10.1007/s11914-010-0010-7
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发表时间：
2010-06
影响因子：
4.3
通讯作者：
Rauch F
中科院分区：
文献类型：
--
作者：
Morello R;Rauch F
过去三年来，胶原蛋白生物学家和人类遗传学家对成骨不全症（OI或脆性骨病）进行了令人兴奋的研究。对软骨相关蛋白（Crtap）的功能研究发现，它是一种异三聚体内质网驻留复合物的重要组成部分，负责胶原脯氨酸3-羟基化和伴侣蛋白功能。重要的是，CRTAP基因的人类突变与隐性成骨不全有关。尽管对3-羟基脯氨酸修饰的功能和体内生物学意义仍知之甚少，但对Crtap的研究已经发现了其他基因，这些基因的突变也会导致隐性OI。这些发现将遗传学家的兴趣集中在内质网上，这将需要生物化学家的帮助来解开胶原蛋白折叠的分子动力学和复杂性。
The past three years have been exciting for both collagen biologists and human geneticists studying the disease known as osteogenesis imperfecta (OI or brittle bone disease). Functional studies on Cartilage-associated Protein (Crtap) have identified it as an essential component of a heterotrimeric, endoplasmic reticulum resident complex responsible for both collagen prolyl 3-hydroxylation and chaperone function. Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI. Although the function and in vivo biological significance of the 3-hydroxyproline modification are still poorly understood, studies on Crtap have led to the identification of additional genes in which mutations also cause recessive forms of OI. These discoveries have now focused the interest of geneticists on the endoplasmic reticulum that will require the help of biochemists to unravel the molecular dynamics and complexities of collagen folding.