Missense mutation in sterile α motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat

Journal of the American Society of Nephrology

Volumn 16, Issue 12, 2005, Pages 3517-3526

  Brown, Joanna H ^a   Bihoreau, Marie Thérèse ^a   Hoffmann, Sigrid ^b   Kränzlin, Bettina ^b   Tychinskaya, Iulia ^b   Obermüller, Nicholas ^c   Podlich, Dirk ^b   Boehn, Suzanne N ^b   Kaisaki, Pamela J ^a   Megel, Natalia ^b   Danoy, Patrick ^d   Copley, Richard R ^a   Broxholme, John ^a   Witzgall, Ralph ^e   Lathrop, Mark ^d   Gretz, Norbert ^b   Gauguier, Dominique ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c GOETHE UNIVERSITY   (Germany)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^e UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; ARGININE; FIBROCYSTIN; POLYCYSTIN; POLYCYSTIN 1; POLYCYSTIN 2; PROTEIN SAMCYSTIN; TRYPTOPHAN; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; MEMBRANE PROTEIN; RNA;

AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; EXON; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; INTRON; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; MEDULLARY SPONGE KIDNEY; MISSENSE MUTATION; MOLECULAR CLONING; NEPHRONOPHTHISIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MOTIF; RAT; ANIMAL; BROWN NORWAY RAT; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; IN SITU HYBRIDIZATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; IN SITU HYBRIDIZATION; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; RATS; RATS, INBRED BN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SENSITIVITY AND SPECIFICITY; TRPP CATION CHANNELS;

EID: 33645927665     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2005060601     Document Type: Article

References (48)

1. Igarashi P, Somlo S: Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 13: 2384-2398, 2002
2. Ariza M, Alvarez V, Marin R, Aguado S, Lopez-Larrea C, Alvarez J, Menendez MJ, Coto E: A family with a milder form of adult dominant not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet 34: 587-589, 1997
3. Guay-Woodford LM: Murine models of polycystic kidney disease: Molecular and therapeutic insights. Am J Physiol Renal Physiol 285: F1034-F1049, 2003
4. Schafer K, Gretz N, Bader M, Oberbaumer I, Eckardt KU, Kriz W, Bachmann S: Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease. Kidney Int 46: 134-152, 1994
5. Gretz N, Kranzlin B, Pey R, Schieren G, Bach J, Obermuller N, Ceccherini I, Kloting I, Rohmeiss P, Bachmann S, Hafner M: Rat models of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 11[Suppl 6]: 46-51, 1996
6. Bihoreau MT, Ceccherini I, Browne J, Kranzlin B, Romeo G, Lathrop GM, James MR, Gretz N: Location of the first genetic locus, PKDr1, polycystic kidney disease in Han: SPRD cy/+ rat. Hum Mol Genet 6: 609-613, 1997
7. Woo D, Shya S, Kurtz I: Localisation and genetic mapping of the polycystic kidney disease mutation in cy rat [Abstract]. J Am Soc Nephrol 7: A1797, 1996
8. Nagao S, Ushijima T, Kasahara M, Yamaguchi T, Kusaka M, Matsuda J, Nagao M, Takahashi H: Closely linked polymorphic markers for determining the autosomal dominant allele (Cy) in rat polycystic kidney disease. Biochem Genet 37: 227-235, 1999
9. Steen RG, Kwitek-Black AE, Glenn C, Gullings-Handley J, Van Etten W, Atkinson OS, Appel D, Twigger S, Muir M, Mull T, Granados M, Kissebah M, Russo K, Crane R, Popp M, Peden M, Matise T, Brown DM, Lu J, Kingsmore S, Tonellato PJ, Rozen S, Slonim D, Young P, Knoblauch M, Provoost A, Ganten D, Colman SD, Rothberg J, Lander ES, Jacob HJ: A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat. Genome Res 9: AP1-AP8, 1999
10. Wilder SP, Bihoreau MT, Argoud K, Watanabe TK, Lathrop M, Gauguier D: Integration of the rat recombination and EST maps in the rat genomic sequence and comparative mapping analysis with the mouse genome. Genome Res 14: 758-765, 2004
11. Bihoreau MT, Megel N, Brown JH, Kranzlin B, Crombez L, Tychinskaya Y, Broxholme J, Kratz S, Bergmann V, Hoffman S, Gauguier D, Gretz N: Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome. Hum Mol Genet 11: 2165-2173, 2002
12. Watanabe TK, Bihoreau MT, McCarthy LC, Kiguwa SL, Hishigaki H, Tsuji A, Browne J, Yamasaki Y, Mizoguchi-Miyakita A, Oga K, Ono T, Okuno S, Kanemoto N, Takahashi E, Tomita K, Hayashi H, Adachi M, Webber C, Davis M, Kiel S, Knights C, Smith A, Critcher R, Miller J, Thangarajah T, Day PJ, Hudson JR Jr, Irie Y, Takagi T, Nakamura Y, Goodfellow PN, Lathrop GM, Tanigami A, James MR: A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet 22: 27-36, 1999
13. Arnold C, Hodgson IJ: Vectorette PCR: A novel approach to genomic walking. PCR Methods Appl 1: 39-42, 1991
14. Woon PY, Osoegawa K, Kaisaki PJ, Zhao B, Catanese JJ, Gauguier D, Cox R, Levy ER, Lathrop GM, Monaco AP, de Jong PJ: Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library. Genomics 50: 306-316, 1998
15. Obermuller N, Gretz N, Kriz W, Reilly RF, Witzgall R: The swelling-activated chloride channel ClC-2, the chloride channel ClC-3, and ClC-5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial cells. J Clin Invest 101: 635-642, 1998
16. Ausubel FA, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K: Current Protocols in Molecular Biology, New York, John Wiley & Sons, 1996
17. Zor T, Selinger Z: Linearization of the Bradford protein assay increases its sensitivity: Theoretical and experimental studies. Anal Biochem 236: 302-308, 1996
18. Bihoreau MT, Gauguier D, Kato N, Hyne G, Lindpaintner K, Rapp JP, James MR, Lathrop GM: A linkage map of the rat genome derived from three F2. Genome Res 7: 434-440, 1997
19. Aparicio S, Chapman J, Stupka E, Putnam N, Chia JM, Dehal P, Christoffels A, Rash S, Hoon S, Smit A, Gelpke MD, Roach J, Oh T, Ho IY, Wong M, Detter C, Verhoef F, Predki P, Tay A, Lucas S, Richardson P, Smith SF, Clark MS, Edwards YJ, Doggett N, Zharkikh A, Tavtigian SV, Pruss D, Barnstead M, Evans C, Baden H, Powell J, Glusman G, Rowen L, Hood L, Tan YH, Elgar G, Hawkins T, Venkatesh B, Rokhsar D, Brenner S: Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science 297: 1301-1310, 2002
20. Dehal P, Satou Y, Campbell RK, Chapman J, Degnan B, De Tomaso A, Davidson B, Di Gregorio A, Gelpke M, Goodstein DM, Harafuji N, Hastings KE, Ho I, Hotta K, Huang W, Kawashima T, Lemaire P, Martinez D, Meinertzhagen IA, Necula S, Nonaka M, Putnam N, Rash S, Saiga H, Satake M, Terry A, Yamada L, Wang HG, Awazu S, Azumi K, Boore J, Branno M, Chin-Bow S, DeSantis R, Doyle S, Francino P, Keys DN, Haga S, Hayashi H, Hino K, Imai KS, Inaba K, Kano S, Kobayashi K, Kobayashi M, Lee BI, Makabe KW, Manohar C, Matassi G, Medina M, Mochizuki Y, Mount S, Morishita T, Miura S, Nakayama A, Nishizaka S, Nomoto H, Ohta F, Oishi K, Rigoutsos I, Sano M, Sasaki A, Sasakura Y, Shoguchi E, Shin-i T, Spagnuolo A, Stainier D, Suzuki MM, Tassy O, Takatori N, Tokuoka M, Yagi K, Yoshizaki F, Wada S, Zhang C, Hyatt PD, Larimer F, Detter C, Doggett N, Glavina T, Hawkins T, Richardson P, Lucas S, Kohara Y, Levine M, Satoh N, Rokhsar DS: The draft genome of Ciona intestinalis: Insights into chordate and vertebrate origins. Science 298: 2157-2167, 2002
21. Andrade MA, Perez-Iratxeta C, Ponting CP: Protein repeats: Structures, functions, and evolution. J Struct Biol 134: 117-131, 2001
22. Kim CA, Bowie JU: SAM domains: Uniform structure, diversity of function. Trends Biochem Sci 28: 625-628, 2003
23. Kyba M, Brock HW: The SAM domain of polyhomeotic, RAE28, and son mediates specific interactions through conserved residues. Dev Genet 22: 74-84, 1998
24. Serra-Pages C, Medley QG, Tang M, Hart A, Streuli M: Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. J Biol Chem 273: 15611-15620, 1998
25. Stapleton D, Balan I, Pawson T, Sicheri F: The crystal structure of an Eph receptor SAM domain reveals a mechanism for modular dimerization. Nat Struct Biol 6: 44-49, 1999
26. Green JB, Gardner CD, Wharton RP, Aggarwal AK: RNA recognition via the SAM domain of Smaug. Mol Cell 11: 1537-1548, 2003
27. Schultz J, Ponting CP, Hofmann K, Bork P: SAM as a protein interaction domain involved in developmental regulation. Protein Sci 6: 249-253, 1997
28. Tu H, Barr M, Dong DL, Wigler M: Multiple regulatory domains on the Byr2 protein kinase. Mol Cell Biol 17: 5876-5887, 1997
29. Serra-Pages C, Kedersha NL, Fazikas L, Medley Q, Debant A, Streuli M: The LAR transmembrane protein tyrosine phosphatase and a coiled-coil LAR-interacting protein colocalize at focal adhesions. EMBO J 14: 2827-2838, 1995
30. Kasten M, Giordano A: Cdk10, a Cdc2-related kinase, associates with the Ets2 transcription factor and modulates its transactivation activity. Oncogene 20: 1832-1838, 2001
31. Zhang H, Xu Q, Krajewski S, Krajewska M, Xie Z, Fuess S, Kitada S, Pawlowski K, Godzik A, Reed JC: BAR: An apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. Proc Natl Acad Sci U S A 97: 2597-2602, 2000
32. Seidel JJ, Graves BJ: An ERK2 docking site in the Pointed domain distinguishes a subset of ETS transcription factors. Genes Dev 16: 127-137, 2002
33. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C: Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12: 463-471, 2003
34. Sheng M, Kim E: The Shank family of scaffold proteins. J Cell Sci 113: 1851-1856, 2000
35. Tabuchi K, Biederer T, Butz S, Sudhof TC: CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein. J Neurosci 22: 4264-4273, 2002
36. Lyons RJ, Deane R, Lynch DK, Ye ZS, Sanderson GM, Eyre HJ, Sutherland GR, Daly RJ: Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14. J Biol Chem 276: 17172-17180, 2001
37. Yan W, Rajkovic A, Viveiros MM, Burns KH, Eppig JJ, Matzuk MM: Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper. Mol Endocrinol 16: 1168-1184, 2002
38. Cogswell C, Price SJ, Hou X, Guay-Woodford LM, Flaherty L, Bryda EC: Positional cloning of jcpk/bpk locus of the mouse. Mamm Genome 14: 242-249, 2003
39. Saffman EE, Styhler S, Rother K, Li W, Richard S, Lasko P: Premature translation of oskar in oocytes lacking the RNA-binding protein bicaudal-C. Mol Cell Biol 18: 4855-4862, 1998
40. Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, Taya C, Kamiya K, Yoshikawa Y, Tokano H, Kitamura K, Shimizu K, Wakabayashi Y, Shiroishi T, Kominami R, Yonekawa H: Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 12: 453-461, 2003
41. Yoder BK, Hou X, Guay-Woodford LM: The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 13: 2508-2516, 2002
42. Kim CA, Phillips ML, Kim W, Gingery M, Tran HH, Robinson MA, Faham S, Bowie JU: Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression. EMBO J 20: 4173-4182, 2001
43. Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG: PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 109: 157-168, 2002
44. Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 34: 455-459, 2003
45. Nauli SM, Zhou J: Polycystins and mechanosensation in renal and nodal cilia. Bioessays 26: 844-856, 2004
46. Wu G, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 93: 177-188, 1998
47. Goodstadt L, Ponting CP: CHROMA: Consensus-based colouring of multiple alignments for publication. Bioinformatics 17: 845-846, 2001
48. Russell RB, Barton GJ: Multiple protein sequence alignment from tertiary structure comparison: Assignment of global and residue confidence levels. Proteins 14: 309-323, 1992