Please use this identifier to cite or link to this item: https://doi.org/10.1038/srep29450
Title: COL4A6 is dispensable for autosomal recessive Alport syndrome
Authors: Murata, T
Katayama, K
Oohashi, T
Jahnukainen, T
Yonezawa, T
Sado, Y
Ishikawa, E
Nomura, S
Tryggvason, K 
Ito, M
Keywords: COL4A1 protein, human
Col4a1 protein, mouse
COL4A2 protein, human
Col4a2 protein, mouse
COL4A6 protein, human
collagen type 4
peptide fragment
adolescent
animal
C57BL mouse
cross breeding
female
genetics
glomerulus basement membrane
homozygote
human
intron
kidney
knockout mouse
male
metabolism
mouse
mutation
nephritis
recessive gene
Adolescent
Animals
Collagen Type IV
Crosses, Genetic
Female
Genes, Recessive
Glomerular Basement Membrane
Homozygote
Humans
Introns
Kidney
Male
Mice
Mice, Inbred C57BL
Mice, Knockout
Mutation
Nephritis, Hereditary
Peptide Fragments
Issue Date: 2016
Publisher: Nature Publishing Group
Citation: Murata, T, Katayama, K, Oohashi, T, Jahnukainen, T, Yonezawa, T, Sado, Y, Ishikawa, E, Nomura, S, Tryggvason, K, Ito, M (2016). COL4A6 is dispensable for autosomal recessive Alport syndrome. Scientific Reports 6 : 29450. ScholarBank@NUS Repository. https://doi.org/10.1038/srep29450
Rights: Attribution 4.0 International
Abstract: Alport syndrome is caused by mutations in the genes encoding ?3, ?4, or ?5 (IV) chains. Unlike X-linked Alport mice, ?5 and ?6 (IV) chains are detected in the glomerular basement membrane of autosomal recessive Alport mice, however, the significance of this finding remains to be investigated. We therefore generated mice lacking both ?3 and ?6 (IV) chains and compared their renal function and survival with Col4a3 knockout mice of 129 × 1/Sv background. No significant difference was observed in the renal function or survival of the two groups, or when the mice were backcrossed once to C57BL/6 background. However, the survival of backcrossed double knockout mice was significantly longer than that of the mice of 129 × 1/Sv background, which suggests that other modifier genes were involved in this phenomenon. In further studies we identified two Alport patients who had a homozygous mutation in intron 46 of COL4A4. The ?5 and ?6 (IV) chains were focally detected in the glomerular basement membrane of these patients. These findings indicate that although ?5 and ?6 (IV) chains are induced in the glomerular basement membrane in autosomal recessive Alport syndrome, their induction does not seem to play a major compensatory role.
Source Title: Scientific Reports
URI: https://scholarbank.nus.edu.sg/handle/10635/182453
ISSN: 2045-2322
DOI: 10.1038/srep29450
Rights: Attribution 4.0 International
Appears in Collections:Elements
Staff Publications

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1038_srep29450.pdf5.86 MBAdobe PDF

OPEN

NoneView/Download

SCOPUSTM   
Citations

6
checked on Apr 15, 2021

Page view(s)

46
checked on Apr 15, 2021

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons