The mouse homolog of PKD1: Sequence analysis and alternative splicing

Mammalian Genome

Volumn 8, Issue 5, 1997, Pages 307-311

  Löhning, Corinna ^a   Nowicka, Urszula ^a   Frischauf, Anna Maria ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PRIMER DNA; PROTEIN;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; C57BL MOUSE; COMPARATIVE STUDY; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; DNA PRIMERS; DNA, COMPLEMENTARY; HUMANS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPECIES SPECIFICITY; TRPP CATION CHANNELS;

ANIMALIA; RODENTIA;

EID: 0031133951     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900429     Document Type: Article

References (18)

1. American PKD1 Consortium (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Gene 4, 575-582
2. Claros MG, von Heijne G (1994) TopPred II: an improved software for membrane protein structure predictions. Comput Appl Biosci 10, 685-686
3. Duan DS, Werner S, Williams LT (1992) A naturally occurring secreted form of fibroblast growth factor (FGF) receptor 1 binds basic FGF in preference over acidic FGF. J Biol Chem 267, 16076-16080
4. European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77, 881-894
5. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, Sanmillan JL, Gamble V, Harris PC (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 10, 151-160
6. International Polycystic Kidney Disease Consortium (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81, 289-298
7. Kozak M (1987) At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J Mol Biol 196, 947-950
8. Mochizuki T, Wu GQ, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai YQ, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJM Somlo S (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272, 1339-1342
9. Mosley B, Beckmann MP, March CJ, Idzerda RL, Gimpel SD, VandenBos T, Friend D, Alpert A, Anderson D, Jackson J et al. (1989) The murine interleukin-4 receptor: molecular cloning and characterization of secreted and membrane bound forms. Cell 59, 335-348
10. Moy GW, Mendoza LM, Schulz JR, Swanson WJ, Glabe CG, Vacquier VD (1996) The sea-urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J Cell Biol 133, 809-817
11. Olsson PG, Lohning C, Horsley S, Kearney L, Harris PC, Frischauf AM (1996) The mouse homolog of the polycystic kidney disease gene (PKD1) is a single copy gene. Genomics 34, 233-235
12. Peral B, Gamble V, Millan JLS, Strong C, Sloanestanley J, Moreno F, Harris PC (1995) Splicing mutations of the polycystic kidney disease 1 (PKDI) gene induced by intronic deletion. Hum Mol Genet 4, 569-574
13. Peral B, Ong ACM, Sanmillan JL, Gamble V, Rees L, Harris PC (1996a) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5, 539-542
14. Peral B, Sanmillan JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC (1996b) Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals 6 novel mutations. Am J Hum Genet 58, 86-96
15. Petch LA, Harris J, Raymond VW, Blasband A, Lee DC, Earp HS (1990) A truncated, secreted form of the epidermal growth factor receptor is encoded by an alternatively spliced transcript in normal rat tissue. Mol Cell Biol 10, 2973-2982
16. Sambrook J, Fritsch EF, Maniatis T (1989). Molecular Cloning: A Laboratory Manual. (Cold Spring Harbor. NY: Cold Spring Harbor Laboratory Press)
17. Schneider MC, Zhang F, Geng L, Pohlschmidt M, Zhou J, Zhao H, Torosian S, Lohning C, Kovats S, Frischauf A, Reeders ST Fu, YH (1994) Identification of the autosomal dominant polycystic kidney disease gene. Am J Hum Genet 55, 37
18. Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF (1995) A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large 3-generation italian family. Hum Mol Genet 4, 1331-1335