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Science 27 August 1993:
Vol. 261. no. 5125, pp. 1167 - 1169
DOI: 10.1126/science.8356449
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Articles
Science, Vol 261, Issue 5125, 1167-1169
Copyright © 1993 by American Association for the Advancement of Science
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
J Zhou,
T Mochizuki,
H Smeets,
C Antignac,
P Laurila,
A de Paepe,
K Tryggvason,
and
ST Reeders
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812.
The gene encoding alpha 6(IV) collagen, COL4A6, was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the alpha 5(IV) collagen gene, COL4A5. In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both COL4A5 and COL4A6. Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.
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- Coordinate Gene Expression of the alpha 3, alpha 4, and alpha 5 Chains of Collagen Type IV. EVIDENCE FROM A CANINE MODEL OF X-LINKED NEPHRITIS WITH A COL4A5 GENE MUTATION.
- P. S. Thorner, K. Zheng, R. Kalluri, R. Jacobs, and B. G. Hudson (1996)
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- The Goodpasture Autoantigen.
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