Cardiac defects and renal failure in mice with targeted mutations in Pkd2

Nature Genetics

Volumn 24, Issue 1, 2000, Pages 75-78

  Wu, Guanqing ^a,b   Markowitz, Glen S ^c   Li, Li ^a   D'Agati, Vivette D ^c   Factor, Stephen M ^a   Geng, Lin ^d   Tibara, Sonia ^a   Tuchman, Jay ^a   Cai, Yiqiang ^a,b   Park, Jong Hoon ^a   Van Adelsberg, Janet ^c   Hou Jr , Harry ^a   Kucherlapati, Raju ^a   Edelmann, Winfried ^a   Somlo, Stefan ^a,b  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c The New York Presbyterian Hospital   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALNEXIN; POLYCYSTIN;

ALLELE; ARTICLE; CONGENITAL HEART MALFORMATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; MOUSE; NONHUMAN; PANCREAS CYST; PRIORITY JOURNAL;

ANIMALS; CALCIUM CHANNELS; FETAL DEATH; HEART DEFECTS, CONGENITAL; KIDNEY FAILURE; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MUTATION; PHENOTYPE; TRPP CATION CHANNELS;

RODENTIA;

EID: 0033989173     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/71724     Document Type: Article

References (28)

1. Mochizuki, T. et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272, 1339-1342 (1996).
2. Cai, Y. et al. Identification and characterization of polycystin-2, the PKD2 gene product. J. Biol. Chem. 274, 28557-28565 (1999).
3. Chen, X.Z. et al. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature 401, 383-386 (1999).
4. Wu, G. et al. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 93, 177-188 (1998).
5. Qian, F., Watnick, T.J., Onunchic, L.F. & Germino, G.G. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87, 979-987 (1996).
6. Brasier, J.L. & Henske, E.P. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest. 99, 194-199 (1997).
7. Koptides, M., Hadjimichael, C., Koupepidou, P., Pierides, A. & Constantinou, D.C. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum. Mol. Genet. 8, 509-513 (1999).
8. Pei, Y. et al. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 10, 1524-1529 (1999).
9. Torra, R. et al. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am. J. Hum. Genet. 65, 345-352 (1999).
10. Emmons, S. & Somlo, S. Mating, channels and kidney cysts. Nature 401, 339-340 (1999).
11. The International Polycystic Kidney Disease Consortium. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81, 289-298 (1995).
12. Hughes, J. et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet. 10, 151-160 (1995)
13. Qian, F. et al. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet. 16, 179-183 (1997).
14. Tsiokas, L., Kim, E., Arnould, T., Sukhatme, V.P. & Walz, G. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad. Sci USA 94, 6965-6970 (1997).
15. Markowitz, G.S. et al. Polycystin-2 expression is developmentally regulated. Am. J. Physiol. 277, F17-F25 (1999).
16. Gittes, G.K., Galante, P.E., Hanahan, D., Rutter, W.J. & Debase, H.T. Lineage-specific morphogenesis in the developing pancreas: role of mesenchymal factors. Development 122, 439-447 (1996).
17. Lu, W. et al. Perinatal lethality with kidney and pancreas defects in mice with a targeted Pkd1 mutation. Mature Genet. 17, 179-181 (1997).
18. Rossant, J. Mouse mutants and cardiac development: new molecular insights into cardiogenesis. Circ. Res. 78, 349-353 (1996).
19. Ranger, A.M. et al. The transcription factor NF-ATc is essential for cardiac valve formation. Nature 392, 186-190 (1998).
20. Clark, T.G. et al. The mammalian Tolloid-like 1 gene, TII1, is necessary for normal septation and positioning of the heart. Development 126, 2631-2642 (1999).
21. Conway, S.J., Henderson, D.J., Kirby, M.L., Anderson, R.H. & Copp, A.J. Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse. Cardiovasc. Res. 36, 163-173 (1997).
22. Fishman, M.C. & Chien, K.R. Fashioning the vertebrate heart: earliest embryonic decisions. Development 124, 2099-2117 (1997).
23. Olson, E.N. & Srivastava, D. Molecular pathways controlling heart development. Science 272, 671-676 (1996).
24. Torra, R. et al. Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. Clin. Nephrol. 47, 19-22 (1997).
25. Hateboer, N. et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353, 103-107 (1999).
26. Huston, J., Torres, V.E., Sulivan, P.P., Offord, K.P. & Wiebers, D.O. Value of magnetic resonance angiography for the detection of intracranial aneurysms in autosomal dominant polycystic kidney disease. J. Amer. Soc. Nephrol. 3, 1871-1877 (1993).
27. Bardaji, A. et al. Left ventricular mass and diastolic function in normotensive young adults with autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 32, 970-975 (1998).
28. Stockelman, M.G. et al. Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. Am. J. Physiol. 275, F154-F163 (1998).