Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3

Cytogenetic and Genome Research

Volumn 97, Issue 3-4, 2002, Pages 163-166

  Volz, A ^a   Melkaoui, R ^a   Hildebrandt, F ^b   Omran, H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Dept of Pediat/Communic Diseases ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; PROTEIN DNAJ; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 40; PRIMER DNA;

ADOLESCENT; ADOLESCENT DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EXON; FAMILIAL DISEASE; GENE; GENE AMPLIFICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE KIAA0678; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENOME; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; KIDNEY POLYCYSTIC DISEASE; LEBER CONGENITAL AMAUROSIS; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DISEASE; SENIOR LOKEN SYNDROME; CHROMOSOME 3; CHROMOSOME MAP; GENETICS; POLYMERASE CHAIN REACTION; SYNDROME;

ADOLESCENT; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA PRIMERS; HEAT-SHOCK PROTEINS; HSP40 HEAT-SHOCK PROTEINS; HUMANS; KIDNEY DISEASES, CYSTIC; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 0036044355     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000066617     Document Type: Article

References (31)

1. Bardwell JC, Tilly K, Craig E, King J, Zylicz M, Georgopoulos C: The nucleotide sequence of the Escherichia coli K12 dnaJ+ gene. A gene that encodes a heat shock protein. J biol Chem 261:1782-1785 (1986).
2. Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136:828-831 (2000).
3. Boichis H, Passwell J, David R, Miller H: Congenital hepatic fibrosis and nephronophthisis. A family study. Q J Med 42:221-233 (1973).
4. Borkan SC, Gullans SR: Molecular chaperones in the kidney. A Rev Physiol 64:503-527 (2002).
5. Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J: Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet 97:798-801 (1996).
6. Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME: Unfolding retinal dystrophies: a role for molecular chaperones? Trends molec Med 7:414-421 (2001).
7. Cheetham ME, Caplan AJ: Structure, function and evolution of DnaJ: conservation and adaptation of chaperone function. Cell Stress Chaperones 3:28-36 (1998).
8. Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH: A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J hum Genet 66:319-326 (2000).
9. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM: De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genet 18:311-312 (1998).
10. Gill JR Jr, Frolich JC, Bowden RE, Taylor AA, Keiser HR, Seyberth HW, Oates JA, Bartter FC: Bartter's syndrome: a disorder characterized by high urinary prostaglandins and a dependence of hyperreninemia on prostaglandin synthesis. Am J Med 61:43-51 (1976).
11. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A: Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet 17:194-197 (1997).
12. Hildebrandt F, Omran H: New insights: Nephronophthisis/medullary cystic kidney disease. Ped Nephrol 16:168-176 (2001).
13. Kleinknecht C: The inheritance of nephronophthisis, in Spitzer A, Avner ED (eds): Topics in Renal Medicine: Inheritance of Kidney and Urinary Tract Diseases, pp 277-294 (Kluwer Academic Publishers, Boston 1989).
14. Loken AC, Hanssen O, Halvorsen S, Jolster NJ: Hereditary renal dysplasia and blindness. Acta Paediatr 50:177-184 (1961).
15. Mainzer F, Saldino RM, Ozonoff MB, Minagi H: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49:556-562 (1970).
16. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP: Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet 17:139-141 (1997).
17. Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F: Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am J hum Genet 66:118-127 (2000).
18. Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F: Human adolescent nephronophthisis: Gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol 12:107-113 (2001a).
19. Omran H, Häffner K, Burth S, Ala-Mello S, Antignac C, Hildebrandt F: Evidence for further genetic heterogeneity in nephronophthisis. Nephrol Dial Transplant 16:755-758 (2001b).
20. Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Otto E, Wienker T, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F: Identification of a gene locus for Senior-Løken Syndrome in the region of the nephronophthisis type 3 gene. J Am Soc Nephrol 13:75-79 (2002).
21. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frezal J, Dufier JL, Pittler S, Munnich A, Kaplan J: Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet 14:461-464 (1996).
22. Qian YQ, Patel D, Hartl FU, McColl DJ: Nuclear magnetic resonance solution structure of the human Hsp40 (HDJ-1) J-domain. J molec Biol 260: 224-235 (1996).
23. Sambrook J, Fritsch E, Maniatis T: Molecular Cloning. A Laboratory Manual, 2nd ed (Cold Spring Harbor Laboratory Press, Cold Spring Harbor 1989).
24. Senior B, Friedmann A, Braudo J: Juvenile familial nephropathy with tapetoretinal degeneration, a new oculo-renal syndrome. Am J Ophthalmol 52:625-633 (1961).
25. Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F: Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome to chromosome 1p36. Am J hum Genet 70:1240-1246 (2002).
26. Smoyer WE, Gupta A, Mundel P, Ballew JD, Welsh MJ: Altered expression of glomerular heat shock protein 27 in experimental nephrotic syndrome. J Clin Invest 97:2697-2704 (1996).
27. Smoyer WE, Ransom R, Harris RC, Welsh MJ, Lutsch G, Benndorf R: Ischemic acute renal failure induces differential expression of small heat shock proteins. J Am Soc Nephrol 11:211-221 (2000).
28. Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP: Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nature Genet 24:79-83 (2000).
29. Steel CM, Philipson J, Arthur E, Gardiner SE, Newton MS, McIntosh RV: Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes. Nature 270:729-731 (1977).
30. Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR: A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 103:328-333 (1998).
31. Tatusova TA, Madden TL: BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 174:247-250 (1999).