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Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat: The AMERICAN PKD1 Consortium (APKD1 Consortium)
Abstract
The complete genomic sequence of the gene responsible for the predominant form of polycystic kidney disease, PKD1, was determined to provide a framework for understanding the biology and evolution of the gene, and to aid in the development of molecular diagnostics. The DNA sequence of a 54 kb interval immediately upstream of the poly(A) addition signal sequence of the PKD1 transcript was determined, and then analyzed using computer methods. A leucine-rich repeat (LRR) motif was identified within the resulting predicted protein sequence of the PKD1 gene. By analogy with other LRR-containing proteins, this may explain some of the disease-related renal alterations such as mislocalization of membrane protein constituents and changes in the extracellular matrix organization. Finally, comparison of the genomic sequence and the published partial cDNA sequence showed several differences between the two sequences. The most significant difference detected predicts a novel carboxy-terminus for the PKD1 gene product.
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Citations
Cited by
Autosomal dominant polycystic kidney disease
Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550
Yoder, B. K., Hou, X., & Guay-Woodford, L. M. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000029587.47950.25 · Cited by 935
Qian, F., Watnick, T. J., Onuchic, L. F., & Germino, G. G. (1996) · Cell · doi:10.1016/s0092-8674(00)81793-6 · Cited by 615
Self-citationMechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases
Torres, V. E., & Harris, P. C. (2006) · Nature Clinical Practice Nephrology · doi:10.1038/ncpneph0070 · Cited by 296
Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus
Chauvet, V., Tian, X., Husson, H., Grimm, D. H., Wang, T., Hieseberger, T., Igarashi, P., Bennett, A. M., Ibraghimov-Beskrovnaya, O., Somlo, S., et al. (2004) · Journal of Clinical Investigation · doi:10.1172/jci21753 · Cited by 294
Metadata
- Authors
- Burn, T. C., Connors, T. D., Dackowski, W. R., Petry, L. R., van Raay, T. J., Millholland, J. M., Venet, M., Miller, G., Hakim, R. M., Landes, G. M., Kilnger, K. W., Qian, F., Onuchic, L. F., Watnick, T., Germino, G. G., & Doggett, N. A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995
- Volume
- 4
- Issue
- 4
- Pages
- 575-582
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2133532840
- Cited by
- 235
- References
- 0
- FWCI
- 15.21
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Burn, T. C., Connors, T. D., Dackowski, W. R., Petry, L. R., van Raay, T. J., Millholland, J. M., Venet, M., Miller, G., Hakim, R. M., Landes, G. M., Kilnger, K. W., Qian, F., Onuchic, L. F., Watnick, T., Germino, G. G., & Doggett, N. A. (1995). Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat: The AMERICAN PKD1 Consortium (APKD1 Consortium). Human Molecular Genetics. https://doi.org/10.1093/hmg/4.4.575
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