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Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome.

K Nakanishi, N Yoskikawa, K Iijima and H Nakamura
JASN June 1996, 7 (6) 938-945;
K Nakanishi
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N Yoskikawa
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K Iijima
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H Nakamura
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Abstract

X-Linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the Type IV collagen alpha 5 chain (alpha 5(IV)). The authors' recent immunohistochemical study demonstrated abnormal expression of alpha 3(IV) and alpha 4(IV), as well as of alpha 5(IV), in patients with this syndrome, and a correlation between abnormal alpha 3(IV) and alpha 4(IV) expression and severity of the disease. The mechanism linking alpha 5(IV) mutations with abnormal alpha 3(IV) and alpha 4(IV) expression is unknown. To examine alpha 3(IV) and alpha 4(IV) mRNA expression in renal cortical tissues of patients with X-linked Alport syndrome, a nonradioisotopic, semiquantitative reverse transcription-polymerase chain reaction assay (alpha 3(IV) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH), alpha 4(IV), and GAPDH coamplification) was performed. There were no significant differences among severely affected male (N = 3), mildly affected male (N = 2), and female (N = 1) X-linked Alport patients and control subjects (N = 2) with respect to alpha 3(IV) and alpha 4(IV) mRNA expression in renal cortical tissue. These findings indicate that alpha 3(IV) and alpha 4(IV) transcription is not turned off in X-linked Alport syndrome and suggest that abnormal expression of alpha 3(IV) and alpha 4(IV) proteins in this syndrome may be the result of failure of incorporation of alpha 3(IV) and alpha 4(IV) into the glomerular basement membrane.

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Journal of the American Society of Nephrology
Vol. 7, Issue 6
1 Jun 1996
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Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome.
K Nakanishi, N Yoskikawa, K Iijima, H Nakamura
JASN Jun 1996, 7 (6) 938-945;

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Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome.
K Nakanishi, N Yoskikawa, K Iijima, H Nakamura
JASN Jun 1996, 7 (6) 938-945;
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Cited By...

  • Quaternary Organization of the Goodpasture Autoantigen, the {alpha}3(IV) Collagen Chain: SEQUESTRATION OF TWO CRYPTIC AUTOEPITOPES BY INTRAPROTOMER INTERACTIONS WITH THE {alpha}4 AND {alpha}5 NC1 DOMAINS
  • Assembly of Type IV Collagen: INSIGHTS FROM {alpha}3(IV) COLLAGEN-DEFICIENT MICE
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