Fibulins in development and heritable disease.
Fibulins in development and heritable disease.
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DOI：
10.1002/bdrc.20003
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发表时间：
2004-03-01
期刊：
影响因子：
--
通讯作者：
Tsuda, Takeshi
中科院分区：
文献类型：
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作者：
Chu, Mon-Li;Tsuda, Takeshi
纤维蛋白是在多种组织中发现的五种细胞外糖蛋白家族，与多种超分子结构相关，包括弹性纤维、基底膜网络、纤连蛋白微纤维和蛋白聚糖聚集体。对发育表达模式的研究表明，几种fibulin在胚胎发生过程中的上皮-间质转化位点显着表达。在这些部位中，心血管系统得到了更详细的分析。小鼠腓肠肌的基因靶向为了解其生物学作用提供了重要的见解，并导致人类先天性疾病皮肤松弛症的基因突变的鉴定。遗传连锁和分子研究还发现一些纤维蛋白基因与影响广泛器官（包括四肢、眼睛、血液和动脉）的各种人类遗传性疾病相关。在这篇综述中，我们讨论了纤维蛋白在发育中的作用，重点是心血管系统及其与人类遗传疾病的关系。
Fibulins are a family of five extracellular glycoproteins found in a variety of tissues in association with diverse supramolecular structures, including elastic fibers, basement membrane networks, fibronectin microfibrils, and proteoglycan aggregates. Studies of the developmental expression patterns have indicated that several fibulins are prominently expressed at sites of epithelial-mesenchymal transformations during embryogenesis; among these sites, the cardiovascular system has been analyzed in more detail. Gene targeting of fibulins in mice has provided important insights into their biological roles, and has led to the identification of gene mutations in a congenital disorder of humans, cutis laxa. Genetic linkage and molecular studies have also associated several fibulin genes with various human heritable disorders that affect a wide range of organs, including limb, eye, blood, and arteries. In this review, we discuss the role of fibulins in development, with an emphasis on the cardiovascular system, and their involvement in human genetic disease.