Identification of the human CYS1 gene and candidate gene analysis in Boichis disease

Pediatric Nephrology

Volumn 18, Issue 6, 2003, Pages 498-505

  Fliegauf, Manfred ^a   Fröhlich, Christian ^a   Horvath, Judith ^a   Olbrich, Heike ^a   Hildebrandt, Friedhelm ^b   Omran, Heymut ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Cilia; Cys1; CYS1; Cystin; Nephronophthisis

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CYSTINE; NUCLEOTIDE;

ARTICLE; CHROMOSOME 2P; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY POLYCYSTIC DISEASE; LIVER FIBROSIS; MOLECULAR CLONING; NEPHRONOPHTHISIS; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; ORTHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE GENE;

EID: 0038159500     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-003-1141-1     Document Type: Article

References (38)

1. Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 27:1329-1333
2. Murcia NS, Richards WG, Yoder BK, Mucenski ML, Dunlap JR, Woychik RP (2000) The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination. Development 127:2347-2355
3. Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK (2001) Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol Biol Cell 12:589-599
4. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, Cole DG (2000) Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol 151: 709-718
5. Hou X, Mrug M, Yoder BK, Lefkowitz EJ, Kremmidiotis G, D'Eustachio P, Beier DR, Guay-Woodford LM (2002) Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J Clin Invest 109:533-540
6. Yoder BK, Hou X, Guay-Woodford LM (2002) The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 10:2508-2516
7. Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB (2002) Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr Biol 12:378-380
8. Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. QJM 42:221-233
9. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402
10. Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22: 4673-4680
11. McGuffin LJ, Bryson K, Jones, DT (2000) The PSIPRED protein structure prediction server. Bioinformatics 16:404-405
12. Hildebrandt F, Rensing C, Betz RC, Sommer U, Birnbaum S, Imm A, Omran H, Leipholdt M, Otto E, Members of the APN Study Group (2001) Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int 59:434-445
13. Hildebrandt F, Omran H (2001) New insights: nephronophthisis/medullary cystic kidney disease. Pediatr Nephrol 16:168-176
14. Sambrook J, Fritsch E, Maniatis T (1989) Molecular cloning. A laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
15. Steel CM, Philipson J, Arthur E, Gardiner SE, Newton MS, McIntosh RV (1977) Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes. Nature 270:729-731
16. Kozak M (1996) Interpreting cDNA sequences: some insights from studies on translation. Mamm Genome 7:563-574
17. Mount SM (1982) A catalogue of splice junction sequences. Nucleic Acids Res 10:459-472
18. McLaughlin S, Aderem A (1995) The myristoyl-electrostatic switch: a modulator of reversible protein-membrane interactions. Trends Biochem Sci 20:272-276
19. Hancock JF, Paterson H, Marshall CJ (1990) A polybasic domain or palmitoylation is required in addition to the CAAX motif to localize p21ras to the plasma membrane. Cell 63: 133-139
20. Resh MD (1994) Myristylation and palmitylation of Src family members: the fats of the matter. Cell 76:411-413
21. Nonaka S, Tanaka Y, Okada Y, Takeda S, Harada A, Kanai Y, Kido M, Hirokawa N (1998) Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95:829-837
22. Wheatley DN, Wang AM, Strugnell GE (1996) Expression of primary cilia in mammalian cells. Cell Biol Int 20:73-81
23. Olbrich H, Haeffner K, Kispert A, Voelkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 30: 143-144
24. Rott HD (1979) Kartagener's syndrome and the syndrome of immotile cilia. Hum Genet 46:249-261
25. Haycraft CJ, Swoboda P, Taulman PD, Thomas JH, Yoder BK (2001) The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development 128: 1493-1505
26. Qin H, Rosenbaum JL, Barr MM (2001) An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons. Curr Biol 11:457-461
27. Barr MM, Sternberg PW (1999) A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Nature 401:386-389
28. Kleinknecht C (1989) The inheritance of nephronophthisis. In: Spitzer A, Avner ED (eds) Topics in renal medicine: inheritance of kidney and urinary tract diseases. Kluwer, Boston, pp 277-294
29. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17:149-153
30. Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am J Hum Genet 66:118-127
31. Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 71: 1161-1167
32. Mainzer F, Saldino RM, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49: 556-562
33. Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136:828-831
34. Senior B, Friedmann A, Braudo J (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculo-renal syndrome. Am J Ophthalmol 52:625-633
35. Løken AC, Hanssen O, Halvorsen S, Jølster NJ (1961) Hereditary renal dysplasia and blindness. Acta Paediatr 50: 177-184
36. Norby S, Schwartz M (1990) Possible locus for polycystic kidney disease on chromosome 2. Lancet 336:323-324
37. Zerres K, Mucher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, Knapp M, Lennert T, Misselwitz J, Muhlendahl KE von, Neumann HPH, Pirson Y, Rudnik-Schöneborn S, Steinbicker V, Wirth B, Schärer K (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7:429-432
38. Hallermann C, Mucher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schoneborn S, Muntefering H, Zerres K (2000) Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. Am J Med Genet 90:115-119