The pyrophosphate transporter ANKH is expressed in kidney and bone cells and colocalises to the primary cilium/basal body complex

Cellular Physiology and Biochemistry

Volumn 24, Issue 5-6, 2009, Pages 595-604

  Carr, Georgina ^a   Moochhala, Shabbir H ^a   Eley, Lorraine ^b   Vandewalle, Alain ^c   Simmons, Nicholas L ^a   Sayer, John A ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

Author keywords

ANKH; Basal body; Cilial localisation motif; Epithelial cells; Primary cilia; Pyrophosphate

Indexed keywords

ANKH PROTEIN; MEMBRANE PROTEIN; PYROPHOSPHATE; RNA; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BONE CELL; EPITHELIUM CELL; EUKARYOTIC FLAGELLUM; IMMUNOCYTOCHEMISTRY; KIDNEY; KIDNEY EPITHELIUM; KINETOSOME; MOUSE; NONHUMAN; OSTEOBLAST; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MOTIF; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

MURINAE;

EID: 70450242873     PISSN: 10158987     EISSN: None     Source Type: Journal    
DOI: 10.1159/000257515     Document Type: Article

References (30)

1. Fleisch H, Bisaz S: Isolation from urine of pyrophosphate, a calcification inhibitor. Am J Physiol 1962;203:671-675.
2. Moochhala SH, Sayer JA, Carr G, Simmons NL: Renal calcium stones: Insights from the control of bone mineralization. Exp Physiol 2008;93:43-49.
3. Ho AM, Johnson MD, Kingsley DM: Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000;289:265-270.
4. Gurley KA, Reimer RJ, Kingsley DM: Biochemical and genetic analysis of ank in arthritis and bone disease. Am J Hum Genet 2006;79:1017-1029.
5. Carr G, Sayer JA, Simmons NL: Expression and localisation of the pyrophosphate transporter, ank, in murine kidney cells. Cell Physiol Biochem 2007;20:507-516.
6. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ank. Am J Hum Genet 2001;68:1321-1326.
7. Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA: Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ankh. Am J Hum Genet 2002;71:985-991.
8. Corbit KC, Aanstad P, Singla V, Norman AR, Stainier D Y, Reiter JF: Vertebrate smoothened functions at the primary cilium. Nature 2005;437:1018-1021.
9. McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR: Hypomorphic cep290/ nphp6 mutations result in anosmia caused by the selective loss of g proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A 2007;104:15917-15922.
10. Jia S, Dallos P, He DZ: Mechanoelectric transduction of adult inner hair cells. J Neurosci 2007;27:1006-1014.
11. Moorman SJ, Shorr AZ: The primary cilium as a gravitational force transducer and a regulator of transcriptional noise. Dev Dyn 2008.
12. Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003;33:129-137.
13. Praetorius HA, Spring KR: Bending the mdck cell primary cilium increases intracellular calcium. J Membr Biol 2001;184:71-79.
14. Singla V, Reiter JF: The primary cilium as the cell's antenna: Signaling at a sensory organelle. Science 2006;313:629-633.
15. Hildebrandt F, Otto E: Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 2005;6:928-940.
16. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N: Basal body dysfunction is a likely cause of pleiotropic bardet-biedl syndrome. Nature 2003;425:628-633.
17. Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ: Ift80, which encodes a conserved intraflagellar transport protein, is mutated in jeune asphyxiating thoracic dystrophy. Nat Genet 2007;39:727-729.
18. Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S: Heterozygous mutations in ankh, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001;28:37-41.
19. Yepes M, Moore E, Brown SA, Hanscom HN, Smith EP, Lawrence DA, Winkles JA: Progressive ankylosis (ank) protein is expressed by neurons and ank immunohistochemical reactivity is increased by limbic seizures. Lab Invest 2003;83:1025-1032.
20. Pedersen LB, Veland IR, Schroder JM, Christensen ST: Assembly of primary cilia. Dev Dyn 2008;237:1993-2006.
21. Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S: Polycystin-2 traffics to cilia independently of polycystin-1 by using an n-terminal rvxp motif. J Cell Sci 2006;119:1383-1395.
22. Giamarchi A, Padilla F, Coste B, Raoux M, Crest M, Honore E, Delmas P: The versatile nature of the calcium-permeable cation channel trpp2. EMBO Rep 2006;7:787-793. (Pubitemid 44275396)
23. Dwyer ND, Adler CE, Crump JG, L'Etoile ND, Bargmann CI: Polarized dendritic transport and the ap-1 mu1 clathrin adaptor unc-101 localize odorant receptors to olfactory cilia. Neuron 2001;31:277-287.
24. Aanstad P, Santos N, Corbit KC, Scherz PJ, Trinh LA, Salvenmoser W, Huisken J, Reiter JF, Stainier D Y: The extracellular domain of smoothened regulates ciliary localization and is required for high-level hh signaling. Curr Biol 2009.
25. Berbari NF, Johnson AD, Lewis JS, Askwith CC, Mykytyn K: Identification of ciliary localization sequences within the third intracellular loop of g protein-coupled receptors. Mol Biol Cell 2008;19:1540-1547.
26. Anderson CT, Castillo AB, Brugmann SA, Helms JA, Jacobs CR, Stearns T: Primary cilia: Cellular sensors for the skeleton. Anat Rec (Hoboken) 2008;291:1074-1078.
27. Wheatley DN, Wang AM, Strugnell GE: Expression of primary cilia in mammalian cells. Cell Biol Int 1996;20:73-81.
28. Xiao Z, Zhang S, Mahlios J, Zhou G, Magenheimer BS, Guo D, Dallas SL, Maser R, Calvet JP, Bonewald L, Quarles LD: Cilia-like structures and polycystin-1 in osteoblasts/osteocytes and associated abnormalities in skeletogenesis and runx2 expression. J Biol Chem 2006;281:30884-30895.
29. Simms RJ, Eley L, Sayer JA: Nephronophthisis. Eur J Hum Genet 2009;17:406-416.
30. Haycraft CJ, Serra R: Cilia involvement in patterning and maintenance of the skeleton. Curr Top Dev Biol 2008;85:303-332