Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia

American Journal of Human Genetics

Volumn 88, Issue 6, 2011, Pages 852-860

  Fröjmark, Anne Sophie ^a   Schuster, Jens ^a   Sobol, Maria ^a,b   Entesarian, Miriam ^a,e   Kilander, Michaela B C ^c   Gabrikova, Dana ^a,f   Nawaz, Sadia ^d   Baig, Shahid M ^d   Schulte, Gunnar ^c   Klar, Joakim ^a   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b TARAS SHEVCHENKO NATIONAL UNIVERSITY OF KYIV   (Ukraine)

^c KAROLINSKA INSTITUTE   (Sweden)

^d NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF PRE OV   (Slovakia)

Author keywords

[No Author keywords available]

Indexed keywords

FRIZZLED PROTEIN;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOUSE; NAIL DYSPLASIA; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONYCHOLYSIS; PAKISTAN; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOMES, HUMAN, PAIR 8; CODON, NONSENSE; FRIZZLED RECEPTORS; GENOME-WIDE ASSOCIATION STUDY; HEK293 CELLS; HINDLIMB; HOOF AND CLAW; HUMANS; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAIL DISEASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; RECEPTORS, G-PROTEIN-COUPLED; WNT PROTEINS;

MUS;

EID: 79958825689     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.05.013     Document Type: Article

References (36)

1. H. Hamm, S. Karl, and E.B. Bröcker Isolated congenital nail dysplasia: a new autosomal dominant condition Arch. Dermatol. 136 2000 1239 1243
2. C.S. Seitz, and H. Hamm Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation Br. J. Dermatol. 152 2005 1339 1342 (Pubitemid 40933441)
3. O. Duverger, and M.I. Morasso Role of homeobox genes in the patterning, specification, and differentiation of ectodermal appendages in mammals J. Cell. Physiol. 216 2008 337 346 (Pubitemid 351898460)
4. T.P. Hill, M.M. Taketo, W. Birchmeier, and C. Hartmann Multiple roles of mesenchymal beta-catenin during murine limb patterning Development 133 2006 1219 1229
5. Y. Kawakami, J. Capdevila, D. Büscher, T. Itoh, C. Rodríguez Esteban, and J.C. Izpisúa Belmonte WNT signals control FGF-dependent limb initiation and AER induction in the chick embryo Cell 104 2001 891 900 (Pubitemid 32289281)
6. N. Soshnikova, D. Zechner, J. Huelsken, Y. Mishina, R.R. Behringer, M.M. Taketo, E.B. Crenshaw 3rd, and W. Birchmeier Genetic interaction between Wnt/beta-catenin and BMP receptor signaling during formation of the AER and the dorsal-ventral axis in the limb Genes Dev. 17 2003 1963 1968 (Pubitemid 36999323)
7. K.H. Grzeschik, D. Bornholdt, F. Oeffner, A. König, M. del Carmen Boente, H. Enders, B. Fritz, M. Hertl, U. Grasshoff, and K. Höfling Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia Nat. Genet. 39 2007 833 835 (Pubitemid 47014490)
8. D.C. Blaydon, Y. Ishii, E.A. O'Toole, H.C. Unsworth, M.T. Teh, F. Rüschendorf, C. Sinclair, V.K. Hopsu-Havu, N. Tidman, and C. Moss The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia Nat. Genet. 38 2006 1245 1247 (Pubitemid 44646285)
9. P. Parma, O. Radi, V. Vidal, M.C. Chaboissier, E. Dellambra, S. Valentini, L. Guerra, A. Schedl, and G. Camerino R-spondin1 is essential in sex determination, skin differentiation and malignancy Nat. Genet. 38 2006 1304 1309 (Pubitemid 44646293)
10. L. Adaimy, E. Chouery, H. Megarbane, S. Mroueh, V. Delague, E. Nicolas, H. Belguith, P. de Mazancourt, and A. Megarbane Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia Am. J. Hum. Genet. 81 2007 821 828 (Pubitemid 47596549)
11. A. Bohring, T. Stamm, C. Spaich, C. Haase, K. Spree, U. Hehr, M. Hoffmann, S. Ledig, S. Sel, P. Wieacker, and A. Röpke WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes Am. J. Hum. Genet. 85 2009 97 105
12. S. Nawaz, J. Klar, M. Wajid, M. Aslam, M. Tariq, J. Schuster, S.M. Baig, and N. Dahl WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome Eur. J. Hum. Genet. 17 2009 1600 1605
13. S.D. Dreyer, G. Zhou, A. Baldini, A. Winterpacht, B. Zabel, W. Cole, R.L. Johnson, and B. Lee Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome Nat. Genet. 19 1998 47 50 (Pubitemid 28242021)
14. D. Jumlongras, M. Bei, J.M. Stimson, W.F. Wang, S.R. DePalma, C.E. Seidman, U. Felbor, R. Maas, J.G. Seidman, and B.R. Olsen A nonsense mutation in MSX1 causes Witkop syndrome Am. J. Hum. Genet. 69 2001 67 74 (Pubitemid 32614019)
15. I.M. Carr, K.J. Flintoff, G.R. Taylor, A.F. Markham, and D.T. Bonthron Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families Hum. Mutat. 27 2006 1041 1046 (Pubitemid 44454057)
16. M. Entesarian, B. Carlsson, M.R. Mansouri, E.L. Stattin, E. Holmberg, I. Golovleva, H. Stefansson, J. Klar, and N. Dahl A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population Am. J. Med. Genet. A. 149A 2009 380 386
17. J. Klar, M. Schweiger, R. Zimmerman, R. Zechner, H. Li, H. Törmä, A. Vahlquist, B. Bouadjar, N. Dahl, and J. Fischer Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome Am. J. Hum. Genet. 85 2009 248 253
18. N. Guo, C. Hawkins, and J. Nathans Frizzled6 controls hair patterning in mice Proc. Natl. Acad. Sci. USA 101 2004 9277 9281 (Pubitemid 38812866)
19. Y. Wang, N. Guo, and J. Nathans The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells J. Neurosci. 26 2006 2147 2156 (Pubitemid 44699023)
20. G. Schulte, and V. Bryja The Frizzled family of unconventional G-protein-coupled receptors Trends Pharmacol. Sci. 28 2007 518 525 (Pubitemid 47488504)
21. G. Schulte International Union of Basic and Clinical Pharmacology. LXXX. The class Frizzled receptors Pharmacol. Rev. 62 2010 632 667
22. P. Bross, T.J. Corydon, B.S. Andresen, M.M. Jørgensen, L. Bolund, and N. Gregersen Protein misfolding and degradation in genetic diseases Hum. Mutat. 14 1999 186 198 (Pubitemid 29407260)
23. V. Bryja, G. Schulte, N. Rawal, A. Grahn, and E. Arenas Wnt-5a induces Dishevelled phosphorylation and dopaminergic differentiation via a CK1-dependent mechanism J. Cell Sci. 120 2007 586 595 (Pubitemid 46437893)
24. B.T. Macdonald, M.V. Semenov, and X. He SnapShot: Wnt/beta-catenin signaling Cell 131 2007 1204
25. M.V. Semenov, R. Habas, B.T. Macdonald, and X. He SnapShot: Noncanonical Wnt Signaling Pathways Cell 131 2007 1378
26. C.Y. Logan, and R. Nusse The Wnt signaling pathway in development and disease Annu. Rev. Cell Dev. Biol. 20 2004 781 810 (Pubitemid 39488658)
27. S. Yamamoto, O. Nishimura, K. Misaki, M. Nishita, Y. Minami, S. Yonemura, H. Tarui, and H. Sasaki Cthrc1 selectively activates the planar cell polarity pathway of Wnt signaling by stabilizing the Wnt-receptor complex Dev. Cell 15 2008 23 36 (Pubitemid 351895602)
28. I. Revet, G. Huizenga, J. Koster, R. Volckmann, P. van Sluis, R. Versteeg, and D. Geerts MSX1 induces the Wnt pathway antagonist genes DKK1, DKK2, DKK3, and SFRP1 in neuroblastoma cells, but does not block Wnt3 and Wnt5A signalling to DVL3 Cancer Lett. 289 2010 195 207
29. H. McNeill, and J.R. Woodgett When pathways collide: collaboration and connivance among signalling proteins in development Nat. Rev. Mol. Cell Biol. 11 2010 404 413
30. R. van Amerongen, and R. Nusse Towards an integrated view of Wnt signaling in development Development 136 2009 3205 3214
31. X. Ye, Y. Wang, H. Cahill, M. Yu, T.C. Badea, P.M. Smallwood, N.S. Peachey, and J. Nathans Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization Cell 139 2009 285 298
32. T. Golan, A. Yaniv, A. Bafico, G. Liu, and A. Gazit The human Frizzled 6 (HFz6) acts as a negative regulator of the canonical Wnt. beta-catenin signaling cascade J. Biol. Chem. 279 2004 14879 14888 (Pubitemid 38618878)
33. A.J. Mikels, and R. Nusse Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context PLoS Biol. 4 2006 e115
34. T. Nikolova, M. Wu, K. Brumbarov, R. Alt, H. Opitz, K.R. Boheler, M. Cross, and A.M. Wobus WNT-conditioned media differentially affect the proliferation and differentiation of cord blood-derived CD133+ cells in vitro Differentiation 75 2007 100 111
35. C.L. Stoick-Cooper, R.T. Moon, and G. Weidinger Advances in signaling in vertebrate regeneration as a prelude to regenerative medicine Genes Dev. 21 2007 1292 1315 (Pubitemid 46871034)
36. J. Schuster, T. Karlsson, P.O. Karlström, I.S. Poromaa, and N. Dahl Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS) Reprod. Biol. Endocrinol. 8 2010 58