scholarly journals Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome

1996 ◽  
Vol 50 (1) ◽  
pp. 304-311 ◽  
Author(s):  
Ichiro Naito ◽  
Shinichiro Kawai ◽  
Shinsuke Nomura ◽  
Yoshikazu Sado ◽  
Gengo Osawa ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Col4a5 Gene ◽  
Type Iv

scholarly journals Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.

1996 ◽  
Vol 7 (5) ◽  
pp. 702-709 ◽  
Author(s):  
N Heiskari ◽  
X Zhang ◽  
J Zhou ◽  
A Leinonen ◽  
D Barker ◽  
...  
Keyword(s):  
Hot Spots ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Polymerase Chain Reaction Amplification ◽  
Col4a5 Gene ◽  
Type Iv ◽  
Reaction Amplification ◽  
Male Patients ◽  
Polymerase Chain ◽  
Collagen Genes

Conditions for polymerase chain-reaction amplification of ten exon regions (Exons 3, 7, 11 through 13, and 15 through 19) of the collagen COL4A5 gene and four exon regions (Exons 2, and 12 through 14) of the COL4A6 gene were sequenced and established in this study. These Type IV collagen genes contain 51 and 48 exons, respectively. The sequences of these exons were determined in the two genes in 250 male patients with hematuria and suspected Alport syndrome. Seventeen mutations were found in nine of the ten exons studied in the COL4A5 gene in 17 patients, whereas no mutations were identified in COL4A6. One mutation was identical in two patients known to be unrelated. The results indicate that mutations in COL4A5 that leading to renal failure are more frequent than those involved in classic Alport syndrome, and also that mutations in COL4A6 are not likely to cause this disease. Furthermore, mutations in COL4A5 are distributed quite randomly and no "hot spots" were found.

scholarly journals Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.

1995 ◽  
Vol 6 (2) ◽  
pp. 264-268
Author(s):  
K Kitagawa ◽  
K Nakanishi ◽  
K Iijima ◽  
H Nishio ◽  
Y Sado ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Chain Reaction ◽  
Col4a5 Gene ◽  
Abnormal Expression ◽  
Type Iv ◽  
Polymerase Chain

Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane and neurosensory deafness. Mutations in the COL4A5 gene encoding the Type IV collagen alpha 5 chain have been reported to occur in patients with X-linked Alport syndrome. A girl with hematuric nephritis, characteristic basket-weave glomerular basement membrane changes, and abnormal expression of the Type IV collagen alpha 5 chain immunohistochemically, but no family history of nephritis, was identified. Mutation detection enhancement gel electrophoresis of the polymerase chain reaction-amplified exons of COL4A5 from this patient revealed a sequence variant in the exon 50 region. Sequence analysis of her polymerase chain reaction product demonstrated a single-base (C; nucleotide 4728 from the 5' end) deletion in exon 50. This novel mutation alters the reading frame and introduces a translation stop codon that would be expected to result in a noncollagenous domain with only 209, instead of the normal 229, amino acid residues. Gene tracking with restriction enzyme AfIIII demonstrated that her mother was normal. These findings represent a new mutation of the X-linked Alport syndrome in this patient and demonstrate that a COL4A5 gene mutation causes the abnormal expression of Type IV collagen alpha 5 chain protein.

scholarly journals The pathogenesis of Alport syndrome involves type IV collagen molecules containing the α3(IV) chain: Evidence from anti-GBM nephritis after renal transplantation

1992 ◽  
Vol 42 (1) ◽  
pp. 179-187 ◽  
Author(s):  
Billy G. Hudson ◽  
Raghuram Kalluri ◽  
Sripad Gunwar ◽  
Manfred Weber ◽  
Fernando Ballester ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Type Iv ◽  
Collagen Molecules

scholarly journals Distribution of Type IV Collagen in the Cochlea in Alport Syndrome

2005 ◽  
Vol 131 (11) ◽  
pp. 1007 ◽  
Author(s):  
Andreas F. Zehnder ◽  
Joe C. Adams ◽  
Peter A. Santi ◽  
Arthur G. Kristiansen ◽  
Chitsuda Wacharasindhu ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Type Iv

scholarly journals Creation of X-linked Alport Syndrome Rat Model with Col4a5 Deficiency

2021 ◽  
Author(s):  
Masumi Namba ◽  
Tomoe Kobayashi ◽  
Mayumi Kohno ◽  
Takayuki Koyano ◽  
Takuo Hirose ◽  
...  
Keyword(s):  
Rat Model ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Interstitial Fibrosis ◽  
Human Kidney ◽  
Pharmacological Therapy ◽  
Renal Diseases ◽  
Cell Hyperplasia ◽  
Type Iv ◽  
Mutant Rat

Alport syndrome is an inherited chronic human kidney disease, characterized by glomerular basement membrane abnormalities. This disease is caused by mutations in COL4A3, COL4A4, or COL4A5 gene. The knockout mice for Col4α3, Col4α4, and Col4α5 are developed and well characterized for the study of Alport syndrome. However, disease progression and effects of pharmacological therapy depend on the genetic variability. This model is reliable only to mice. Therefore in this study, we created a novel Alport syndrome rat model utilizing rGONAD technology. Col4α5 deficient rats showed hematuria, proteinuria, high levels of BUN, Cre, and then died at 18 to 28 weeks of age (Hemizygous mutant males). Histological and ultrastructural analyses displayed the abnormalities including parietal cell hyperplasia, mesangial sclerosis, and interstitial fibrosis. Then, we demonstrated that α3/α4/α5 (IV) and α5/α5/α6 (IV) chains of type IV collagen disrupted in the Col4α5 deficient rats. Moreover, immunofluorescence analyses revealed that some glomeruli of Col4α5 mutant rats were found to be disrupted from postnatal day 0. Thus, Col4α5 mutant rat is a reliable candidate for Alport syndrome model for underlying the mechanism of renal diseases and further identifying potential therapeutic targets for human renal diseases.

Alport Syndrome: Clinical and Genetic Correlation in a Type-IV Collagen Disease

1997 ◽  
pp. 116-123 ◽  
Author(s):  
K.-O. Netzer ◽  
O. Gross ◽  
C. Jung ◽  
R. Kirsten ◽  
S. Seibold ◽  
...  
Keyword(s):  
Genetic Correlation ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Collagen Disease ◽  
Type Iv

Alport Syndrome with a Peculiar Pattern of Distribution of the α3–α6 Chains of Type IV Collagen in Renal Basement Membrane

Nephron ◽  
1998 ◽  
Vol 80 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Mikiya Fujieda ◽  
Fumiko Endo ◽  
Yutaka Morisawa ◽  
Ichiro Naito ◽  
Yoshikazu Sado ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Type Iv
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