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Gene Review:

COL4A5 - collagen, type IV, alpha 5

Canis lupus familiaris

Heidet, L. et al., Harvey, S.J. et al., Cox, M.L. et al., Harvey, S.J. et al., Harvey, S.J. et al.

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Disease relevance of COL4A5

X-linked Alport syndrome is a progressive renal disease caused by mutations in the COL4A5 gene, which encodes the alpha 5(IV) collagen chain [1].
METHODS: We examined the role of this switch in glomerular development and function using a canine model of X-linked nephritis with a COL4A5 mutation [2].

High impact information on COL4A5

In X-linked Alport syndrome, mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen lead to loss of the alpha3/alpha4/alpha5 network and increased susceptibility of the glomerular basement membrane to long-term damage [3].
We show that, independent of the type of mutation and of the level of COL4A5 transcription, both COL4A3 and COL4A4 genes are actively transcribed in podocytes [4].
COL4A5 mutations, causing X-linked Alport syndrome, frequently result in the loss of the alpha5 chains of type IV collagen in basement membranes [4].

Anatomical context of COL4A5

In the human, X-linked Alport syndrome (XLAS) is caused by mutations in COL4A5, resulting in absence of type IV collagen alpha5 chains from the glomerular basement membrane (GBM) of affected individuals [5].

References

Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome. Harvey, S.J., Zheng, K., Jefferson, B., Moak, P., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. Am. J. Pathol. (2003) [Pubmed]
Role of distinct type IV collagen networks in glomerular development and function. Harvey, S.J., Zheng, K., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R.M., Hudson, B.G., Thorner, P.S. Kidney Int. (1998) [Pubmed]
The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome. Harvey, S.J., Mount, R., Sado, Y., Naito, I., Ninomiya, Y., Harrison, R., Jefferson, B., Jacobs, R., Thorner, P.S. Am. J. Pathol. (2001) [Pubmed]
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. Heidet, L., Cai, Y., Guicharnaud, L., Antignac, C., Gubler, M.C. Am. J. Pathol. (2000) [Pubmed]
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Cox, M.L., Lees, G.E., Kashtan, C.E., Murphy, K.E. Mamm. Genome (2003) [Pubmed]

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