A Human-Mouse Chimera of the α3α4α5(IV) Collagen Protomer Rescues the Renal Phenotype in Col4a3−/− Alport Mice
A Human-Mouse Chimera of the α3α4α5(IV) Collagen Protomer Rescues the Renal Phenotype in Col4a3−/− Alport Mice
Collagen IV is a major structural component of basement membranes. In the glomerular basement membrane (GBM) of the kidney, the alpha3, alpha4, and alpha5(IV) collagen chains form a distinct network that is essential for the long-term stability of the glomerular filtration barrier, and is absent in most patients affected with Alport syndrome, a progressive inherited nephropathy associated with mutation in COL4A3, COL4A4, or COL4A5 genes. To investigate, in vivo, the regulation of the expression, assembly, and function of the alpha3alpha4alpha5(IV) protomer, we have generated a yeast artificial chromosome transgenic line of mice carrying the human COL4A3-COL4A4 locus. Transgenic mice expressed the human alpha3 and alpha4(IV) chains in a tissue-specific manner. In the kidney, when expressed onto a Col4a3(-/-) background, the human alpha3(IV) chain restored the expression of and co-assembled with the mouse alpha4 and alpha5(IV) chains specifically at sites where the human alpha3(IV) was expressed, demonstrating that the expression of all three chains is required for network assembly. The co-assembly of the human and mouse chains into a hybrid network in the GBM restores a functional GBM and rescues the Alport phenotype, providing further evidence that defective assembly of the alpha3-alpha4-alpha5(IV) protomer, caused by mutations in any of the three chains, is the pathogenic mechanism responsible for the disease. This line of mice, humanized for the alpha3(IV) collagen chain, will also provide a valuable model for studying the pathogenesis of Goodpasture syndrome, an autoimmune disease caused by antibodies against this chain.
- Medical Research Council United Kingdom
- University of Edinburgh United Kingdom
- Necker-Enfants Malades Hospital France
- French Institute of Health and Medical Research France
- Imperial College Healthcare NHS Trust United Kingdom
Collagen Type IV, Mice, Knockout, Extracellular Matrix Proteins, Chimera, Mice, Transgenic, Nephritis, Hereditary, Kidney, Autoantigens, Basement Membrane, Mice, Protein Subunits, Phenotype, Animals, Humans, Protein Isoforms, RNA, Messenger, Autoantibodies
Collagen Type IV, Mice, Knockout, Extracellular Matrix Proteins, Chimera, Mice, Transgenic, Nephritis, Hereditary, Kidney, Autoantigens, Basement Membrane, Mice, Protein Subunits, Phenotype, Animals, Humans, Protein Isoforms, RNA, Messenger, Autoantibodies
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