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)

Timothy C. Burn, Timothy D. Connors, William R. Dackowski, Linda R. Petry, Terence J. Van Raay, John M. Millholland, Marc Venet, Glenn Miller, Raymond M. Hakim, Gregory M. Landes, Katherine W. Klinger, Feng Qian, Luiz F. Onuchic, Terry Watnick, Gregory G. Germino, Norman A. Doggett

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)575-582
Number of pages8
JournalHuman Molecular Genetics
Volume4
Issue number4
StatePublished - Apr 1995

Fingerprint

Autosomal Dominant Polycystic Kidney
Kidney
Leucine
Sequence Analysis
Genomics
Genes
Gene
Predict
Proteins
Polycystic Kidney Diseases
Poly A
Molecular Pathology
DNA sequences
Protein Sorting Signals
Membrane Protein
Extracellular Matrix
Protein Sequence
Membrane Proteins
CDNA
Complementary DNA

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

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). / Burn, Timothy C.; Connors, Timothy D.; Dackowski, William R.; Petry, Linda R.; Van Raay, Terence J.; Millholland, John M.; Venet, Marc; Miller, Glenn; Hakim, Raymond M.; Landes, Gregory M.; Klinger, Katherine W.; Qian, Feng; Onuchic, Luiz F.; Watnick, Terry; Germino, Gregory G.; Doggett, Norman A.

In: Human Molecular Genetics, Vol. 4, No. 4, 04.1995, p. 575-582.

Research output: Contribution to journalArticle

Burn, TC, Connors, TD, Dackowski, WR, Petry, LR, Van Raay, TJ, Millholland, JM, Venet, M, Miller, G, Hakim, RM, Landes, GM, Klinger, KW, Qian, F, Onuchic, LF, Watnick, T, Germino, GG & Doggett, NA 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, vol. 4, no. 4, pp. 575-582.
Burn, Timothy C. ; Connors, Timothy D. ; Dackowski, William R. ; Petry, Linda R. ; Van Raay, Terence J. ; Millholland, John M. ; Venet, Marc ; Miller, Glenn ; Hakim, Raymond M. ; Landes, Gregory M. ; Klinger, Katherine W. ; Qian, Feng ; Onuchic, Luiz F. ; Watnick, Terry ; Germino, Gregory G. ; Doggett, Norman A. / 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). In: Human Molecular Genetics. 1995 ; Vol. 4, No. 4. pp. 575-582.
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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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