NDLI: Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.

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Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.

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Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Liu, X. Wu, H. Byrne, M. Krane, S. Jaenisch, R.
Description	Author Affiliation: Liu X ( The Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142, USA.);
Abstract	Type III collagen is a fibrillar forming collagen comprising three alpha1(III) chains and is expressed in early embryos and throughout embryogenesis. In the adult, type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin. Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life. To directly study the role of Col3a1 in development and disease, we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination. The mutated allele was transmitted through the mouse germ line and homozygous mutant animals were derived from heterozygous intercrosses. About 10% of the homozygous mutant animals survived to adulthood but have a much shorter life span compared with wild-type mice. The major cause of death of mutant mice was rupture of the major blood vessels, similar to patients with type IV Ehlers-Danlos syndrome. Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	5
Volume Number	94
Language	English
Publisher	National Academy of Sciences
Publisher Date	1997-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Cardiovascular System Growth & Development Collagen Genetics Metabolism Animals Aorta Pathology Ultrastructure Blotting, Southern Cells, Cultured Disease Models, Animal Ehlers-Danlos Syndrome Physiopathology Gene Targeting Histocytochemistry Mice Mice, Transgenic Microscopy, Electron Myocardium Restriction Mapping Sequence Deletion Skin Stem Cells Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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