EMILIN-1 Deficiency Induces Elastogenesis and Vascular Cell Defects
EMILIN-1 Deficiency Induces Elastogenesis and Vascular Cell Defects
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EMILIN-1 缺乏会导致弹性生成和血管细胞缺陷
DOI：
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发表时间：
2004
影响因子：
5.3
通讯作者：
G. Bressan
中科院分区：
文献类型：
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作者：
Miriam Zanetti;P. Braghetta;P. Sabatelli;Isabella Mura;R. Doliana;A. Colombatti;D. Volpin;P. Bonaldo;G. Bressan
摘要EMILIN是一个具有高度结构相似性的细胞外基质基因家族。到目前为止，在人类和小鼠身上已经鉴定出四个基因。为了深入了解这个基因家族的功能，已经通过基因打靶在小鼠体内使Emily-1失活。纯合子的动物都能生育，没有表现出明显的异常。然而，组织学和超微结构检查显示，主动脉和皮肤中的弹性纤维发生了变化。突变的胚胎成纤维细胞在培养中形成弹性纤维也是异常的。此外，还观察到细胞形态和内皮细胞和平滑肌细胞对弹性板层的锚定。考虑到Emily-1对细胞具有粘附性，并且该蛋白与弹性蛋白和纤维蛋白-5结合，Emily-1可能通过稳定弹性纤维组分之间的分子相互作用和赋予弹性纤维特定的细胞黏附特性来调节弹性形成和血管细胞的维持。
ABSTRACT EMILINs constitute a family of genes of the extracellular matrix with high structural similarity. Four genes have been identified so far in human and mouse. To gain insight into the function of this gene family, EMILIN-1 has been inactivated in the mouse by gene targeting. The homozygous animals were fertile and did not show obvious abnormalities. However, histological and ultrastructural examination revealed alterations of elastic fibers in aorta and skin. Formation of elastic fibers by mutant embryonic fibroblasts in culture was also abnormal. Additional alterations were observed in cell morphology and anchorage of endothelial and smooth muscle cells to elastic lamellae. Considering that EMILIN-1 is adhesive for cells and that the protein binds to elastin and fibulin-5, EMILIN-1 may regulate elastogenesis and vascular cell maintenance by stabilizing molecular interactions between elastic fiber components and by endowing elastic fibers with specific cell adhesion properties.