It's not all in the cilium, but on the road to it: Genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter

Journal of Hepatology

Volumn 56, Issue 5, 2012, Pages 1201-1203

  Bergmann, Carsten ^a,b   Weiskirchen, Ralf ^b  

^a Bioscientia Center for Human Genetics   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Cilia; Dosage theory; Dosage sensitive network; Fibrocystin polyductin; Modifier; PKD1 PKD2; PKHD1; Polycystic kidney disease (ADPKD, ARPKD); Polycystic liver disease (ADPLD); Polycystin 1 2; PRKCSH; SEC63; Variable disease expression

Indexed keywords

FIBROCYSTIN; GLUCOSIDASE; GLUCOSIDASE II BETA; POLYCYSTIN 1; POLYCYSTIN 2; PROTEIN KINASE C; PROTEIN KINASE C SUBSTRATE HEAVY CHAIN; UNCLASSIFIED DRUG;

ARTICLE; CELL MIGRATION; ENDOPLASMIC RETICULUM; EUKARYOTIC FLAGELLUM; GENE INTERACTION; GENE MUTATION; INHIBITION KINETICS; KIDNEY POLYCYSTIC DISEASE; LIVER POLYCYSTIC DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUALITY CONTROL; STEADY STATE;

EID: 84859716191     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2011.10.014     Document Type: Note

References (13)

1. Bergmann C. Ciliopathies. Eur J Pediatr, in press. doi:10.1007/s00431- 011-1553-z. [Epub Sep 7, 2011].
2. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med 2009;60:321-337.
3. Bergmann C, von Bothmer J, Bruchle N, Venghaus A, Frank V, Fehrenbach H, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 2011;22:2047-2056.
4. Strazzabosco M, Somlo S. Polycystic liver diseases: congenital disorders of cholangiocyte signaling. Gastroenterology 2011;140:1855-1859.
5. Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, et al. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet 2011;43:639-647.
6. Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Coté O, Trudel M. Overexpression of PKD1 causes polycystic kidney disease. Mol Cell Biol 2006;26:1538-1548. (Pubitemid 43202577)
7. Burtey S, Riera M, Ribe E, Pennekamp P, Passage E, Rance R, et al. Overexpression of PKD2 in the mouse is associated with renal tubulopathy. Nephrol Dial Transplant 2008;23:1157-1165. (Pubitemid 351767489)
8. Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, et al. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet 2007;16:1940-1950. (Pubitemid 47354877)
9. Kim I, Fu Y, Hui K, Moeckel G, Mai W, Li C, et al. Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol 2008;19:455-468. (Pubitemid 351355389)
10. Zaghloul NA, Katsanis N. Functional modules, mutational load and human genetic disease. Trends Genet 2010;26:168-176.
11. Qian F, Watnick TJ, Onuchic LF, Germino GG. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 1996;87:979-987. (Pubitemid 26427982)
12. Janssen MJ, Waanders E, Te Morsche RH, Xing R, Dijkman HB, Woudenberg J, et al. Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. Gastroenterology 2011;141:2056-2063.
13. Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, et al. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 2001;68:355-363. (Pubitemid 32147805)