Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton

Trends in Molecular Medicine

Volumn 11, Issue 3, 2005, Pages 129-137

  Koay, M Audrey ^a   Brown, Matthew A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; WNT PROTEIN;

ALBERS SCHOENBERG DISEASE; BONE DENSITY; BONE DEVELOPMENT; BONE DISEASE; BONE MASS; BONE STRUCTURE; CARCINOMA; FAMILIAL DISEASE; GENE FUNCTION; GENETIC DISORDER; GENETIC POLYMORPHISM; INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OSSIFICATION; OSTEOPOROSIS; PATHOGENESIS; PATHOLOGY; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION; SKELETON; VITREORETINOPATHY;

EID: 14844284570     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2005.01.004     Document Type: Review

References (80)

1. E. Dennison, and C. Cooper Epidemiology of osteoporotic fractures Horm. Res. 54 Suppl. 1 2000 58 63
2. K.P. Chang Incidence of hip and other osteoporotic fractures in elderly men and women: Dubbo osteoporosis epidemiology study J. Bone Miner. Res. 19 2004 532 536
3. P. Dolan, and D.J. Torgerson The cost of treating osteoporotic fractures in the United Kingdom female population Osteoporos. Int. 8 1998 611 617
4. J. Kanis Risk of hip fracture according to World Health Organisation criteria for osteopenia and osteoporosis Bone 27 2000 585 590
5. C.W. Slemenda Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on heritability estimates J. Bone Miner. Res. 6 1991 561 567
6. J. Dequeker Genetic determinants of bone mineral content at the spine and radius: a twin study Bone 8 1987 207 209
7. N.K. Arden The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: a study of postmenopausal twins J. Bone Miner. Res. 11 1996 530 534
8. R. Gueguen Segregation analysis and variance components analysis of bone mineral density in healthy families J. Bone Miner. Res. 10 1995 2017 2022
9. E.L. Duncan Site and gender specificity of inheritance of bone mineral density J. Bone Miner. Res. 18 2003 1531 1538
10. H.W. Deng Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density Ann. Hum. Genet. 66 2002 61 74
11. G. Livshits Genetics of bone mineral density: evidence for a major pleiotropic effect from an intercontinental study J. Bone Miner. Res. 19 2004 914 923
12. L.R. Cardon Evidence for a major gene for bone mineral density in idiopathic osteoporotic families J. Bone Miner. Res. 15 2000 1132 1137
13. E. Ginsburg Evidence on major gene control of cortical index in pedigree data from Middle Dalmatia. Croatia Am J Hum Biol 13 2001 398 408
14. M. Koay Influence of LRP5 polymorphisms on normal variation in BMD J. Bone Miner. Res. 19 2004 1619 1627
15. S.L. Ferrari Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Am. J. Hum. Genet. 74 2004 866 875
16. D. Koller Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis J. Clin. Endocrinol. Metab. 85 2000 3116 3120
17. D. Koller Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13 J. Bone Miner. Res. 13 1998 1903 1908
18. T. Akiyama Wnt/β-catenin signaling Cytokine Growth Factor Rev. 11 2000 273 282
19. J. Behrens Cross-regulation of the Wnt signalling pathway: a role of MAP kinases J. Cell Sci. 113 2000 911 919
20. Y. Kawano, and R. Kypta Secreted antagonists of the Wnt signaling pathway J. Cell Sci. 116 2003 2627 2634
21. S. Holmen A novel set of Wnt-Frizzled fusion proteins identifies receptor components that activate β-catenin-dependent signaling J. Biol. Chem. 277 2002 34727 34735
22. Y. Ikeda Axin, a negative regulator of the Wnt signaling pathway, forms a complex with GSK-β3 and β-catenin and promotes GSK-β3-dependent phosphorylation of β-catenin EMBO J. 17 1998 1371 1384
23. Q. Eastman, and R. Grosschedl Regulation of LEF-1/TCF transcription factors by Wnt and other signals Curr. Opin. Cell Biol. 11 1999 233 240
24. M. Lisovsky Frizzled receptors activate a novel JNK-dependent pathway that may lead to apoptosis Curr. Biol. 12 2002 53 58
25. J. Huelsken, and J. Behrens The Wnt signaling pathway J. Cell Sci. 115 2002 3977 3978
26. 2+, and cyclic GMP: visualising Frizzled functions Science 300 2003 1529 1530
27. E. Labbe Association of Smads with lymphoid enhancer binding factor1/T cell specific factor mediates cooperative signaling by the transforming growth factor-β and Wnt pathways Proc. Natl. Acad. Sci. U. S. A. 97 2000 8358 8363
28. A. Letamendia Transcriptional regulation by Smads: crosstalk between the TGF-β and Wnt pathways J. Bone Joint Surg. Am. 83-A Suppl.1 2001 S31 S39
29. L. Hinck Wnt-1 modulates cell-cell adhesion in mammalian cells by stabilising β-catenin binding to the cell adhesion protein cadherin J. Cell Biol. 124 1994 729 741
30. Q. Xu Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand receptor pair Cell 116 2004 883 895
31. P. Hey Cloning of a novel member of the low-density lipoprotein receptor family Gene 216 1998 103 111
32. M. Wehrli arrow encodes an LDL-receptor-related protein essential for Wingless signaling Nature 407 2000 527 530
33. K. Tamai LDL-receptor-related proteins in Wnt signal transduction Nature 407 2000 530 535
34. A. Bejsovec Wnt signaling: an embarrassment of receptors Curr. Biol. 10 2000 R919 R922
35. S. Brown Isolation and characterisation of LRP6, a novel member of the low density lipoprotein receptor gene family Biochem. Biophys. Res. Commun. 248 1998 879 888
36. D. Figueroa Expression of the type I diabetes-associated gene LRP5 in macrophages, vitamin A system cells and the islets of Langerhans suggests multiple potential roles in diabetes J. Histochem. Cytochem. 48 2000 1357 1368
37. M. Kato Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor J. Cell Biol. 157 2002 303 314
38. V. Llorente-Cortes LDL receptor-related protein mediates uptake of aggregated LDL in human vascular smooth muscle cells Arterioscler. Thromb. Vasc. Biol. 20 2000 1572 1579
39. K.C. Yu LDL receptor-related protein mediates cell-surface clustering and hepatic sequestration of chylomicron remnants in LDLR-deficient mice J. Clin. Invest. 107 2001 1387 1394
40. J.G. Neels Interaction between factor VIII and LDL receptor-related protein. Modulation of coagulation? Trends Cardiovasc. Med. 10 2000 8 14
41. J.E. Laithwaite Enhanced macrophage resistance to Pseudomonas exotoxin A is correlated with decreased expression of the low-density lipoprotein receptor-related protein Infect. Immun. 67 1999 5827 5833
42. F. Hofer Members of the low density lipoprotein receptor family mediate cell entry of a minor-group common cold virus Proc. Natl. Acad. Sci. U. S. A. 91 1994 1839 1842
43. Y. Liu Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands Nat. Med. 6 2000 1380 1387
44. Y. Gong LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development Cell 107 2001 513 523
45. M. Johnson Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13) Am. J. Hum. Genet. 60 1997 1326 1332
46. L. Boyden High bone density due to a mutation in LDL-receptor-related protein 5 N. Engl. J. Med. 346 2002 1513 1521
47. R. Little A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait Am. J. Hum. Genet. 70 2002 11 19
48. P. Babij High bone mass in mice expressing a mutant LRP5 gene J. Bone Miner. Res. 18 2003 960 974
49. M.P. Akhter Bone biomechanical properties in LRP5 mutant mice Bone 35 2004 162 169
50. T. Fujino Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion Proc. Natl. Acad. Sci. U. S. A. 100 2003 229 234
51. W.G. Beamer Genetic variability in adult bone density among inbred strains of mice Bone 18 1996 397 403
52. R.A. Davey Genetically modified animal models as tools for studying bone and mineral metabolism J. Bone Miner. Res. 19 2004 882 892
53. O.G. Kelly The Wnt co-receptors Lrp5 and Lrp6 are essential for gastrulation in mice Development 131 2004 2803 2815
54. T.P. Yamaguchi Heads or tails: Wnts and anterior-posterior patterning Curr. Biol. 11 2001 R713 R724
55. S.L. Holmen Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6 J. Bone Miner. Res. 19 2004 2033 2040
56. C. Kokubu Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis Development 131 2004 5469 5480
57. C. Heaney Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation Hum. Mol. Genet. 7 1998 1407 1410
58. E. van Hul Localisation of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13 J. Bone Miner. Res. 17 2002 1111 1117
59. L. van Wesenbeeck Six novel mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density Am. J. Hum. Genet. 72 2003 763 771
60. M.A. Koay Influence of LRP5 polymorphisms on normal variation in BMD J. Bone Miner. Res. 19 2004 1619 1627
61. T. Mizuguchi LRP5, low density lipoprotein receptor related protein 5, is a determinant for bone mineral density J. Hum. Genet. 49 2004 80 86
62. D.L. Koller Contribution of the LRP5 gene to normal variation in peak BMD in women J. Bone Miner. Res. 20 2005 75 80
63. D.L. Koller Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13 J. Bone Miner. Res. 13 1998 1903 1908
64. C. Toomes Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q Am. J. Hum. Genet. 74 2004 721 730
65. X. Jiao Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5 Am. J. Hum. Genet. 75 2004 878 884
66. J. Robitaille Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy Nat. Genet. 32 2002 326 330
67. J. Ezan FrzA/sFRP-1, a secreted antagonist of the Wnt-Frizzled pathway, controls vascular cell proliferation in vitro and in vivo Cardiovasc. Res. 63 2004 731 738
68. S. Eckenrode Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses Hum. Genet. 106 2000 14 18
69. R.C. Twells Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes Hum. Genet. 113 2003 99 105
70. C. Kuhnen β-Catenin in soft tissue sarcomas: expression is related to proliferative activity in high grade sarcomas Mod. Pathol. 13 2000 1005 1013
71. T. Ng Nuclear β-catenin in mesenchymal tumours Mod. Pathol. 18 2005 68 74
72. G. Chen Up-regulation of Wnt-1 and β-catenin production in patients with advanced metastatic prostate carcinoma: potential pathogenetic and prognostic implications Cancer 101 2004 1345 1356
73. T. Nagahata Amplification, up-regulation and over-expression of Dvl-1, the human counterpart of the Drosophila disheveled gene, in primary breast carcinomas Cancer Sci. 94 2003 515 518
74. B. Hoang Expression of LDL receptor-related protein 5 (LRP5) as a novel marker for disease progression in high-grade osteosarcoma Int. J. Cancer 109 2004 106 111
75. B. Hoang Dickkopf3 inhibits invasion and motility of SaOS-2 osteosarcoma cells by modulating the Wnt-β-catenin pathway Cancer Res. 64 2004 2734 2739
76. P. Derksen Illegitimate WNT signaling promotes proliferation of multiple myeloma cells Proc. Natl. Acad. Sci. U. S. A. 101 2004 6122 6127
77. E. Tian The role of the Wnt-signaling antagonist DKK1 in the development of osteolytic lesions in multiple myeloma N. Engl. J. Med. 349 2003 2483 2494
78. R. Fodde APC, signal transduction and genetic instability in colorectal cancer Nat. Rev. Cancer 1 2001 55 67
79. H. Suzuki Epigenetic inactivation of SFRP genes allows constitutive WNT signaling in colorectal cancer Nat. Genet. 36 2004 417 422
80. S. Wong Prognostic and diagnostic significance of β-catenin nuclear immunostaining in colorectal cancer Clin. Cancer Res. 10 2004 1401 1408