No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

Bone

Volumn 55, Issue 1, 2013, Pages 52-56

  Boudin, Eveline ^a   Jennes, Karen ^a   De Freitas, Fenna ^a   Tegay, David ^b   Mortier, Geert ^a   Van Hul, Wim ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b NEW YORK INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

Craniotubular hyperostosis; HTR1B; LRP5; Serotonin; TPH1

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; SCLEROSTIN;

ARTICLE; CRANIOTUBULAR HYPEROSTOSIS; GENE; GENETIC VARIABILITY; HTR1B GENE; HUMAN; HYPEROSTOSIS; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 4 GENE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5 GENE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; SOST GENE; TRYPTOPHAN HYDROXYLASE 1 GENE;

ANIMALS; BONE AND BONES; BONE DISEASES; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; HUMANS; MICE; MUTATION; NUCLEOTIDES; RECEPTOR, SEROTONIN, 5-HT1B; SCLEROSIS; SEROTONIN; TRYPTOPHAN HYDROXYLASE;

EID: 84876707319     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2013.03.015     Document Type: Article

References (38)

1. Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001, 107:513-523.
2. Boyden L.M., Mao J., Belsky J., Mitzner L., Farhi A., Mitnick M.A., et al. High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 2002, 346:1513-1521.
3. Little R.D., Carulli J.P., Del Mastro R.G., Dupuis J., Osborne M., Folz C., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 2002, 70:11-19.
4. Van Wesenbeeck L., Cleiren E., Gram J., Beals R.K., Benichou O., Scopelliti D., et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 2003, 72:763-771.
5. Balemans W., Van Hul W. The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes. Endocrinology 2007, 148:2622-2629.
6. Pangrazio A., Boudin E., Piters E., Damante G., Iacono N.L., D'Elia A.V., et al. Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I. Bone 2011, 49:568-571.
7. Kato M., Patel M.S., Levasseur R., Lobov I., Chang B.H., Glass D.A., et al. Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 2002, 157:303-314.
8. Babij P., Zhao W., Small C., Kharode Y., Yaworsky P.J., Bouxsein M.L., et al. High bone mass in mice expressing a mutant LRP5 gene. J Bone Miner Res 2003, 18:960-974.
9. Holmen S.L., Giambernardi T.A., Zylstra C.R., Buckner-Berghuis B.D., Resau J.H., Hess J.F., et al. Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6. J Bone Miner Res 2004, 19:2033-2040.
10. Holmen S.L., Zylstra C.R., Mukherjee A., Sigler R.E., Faugere M.C., Bouxsein M.L., et al. Essential role of beta-catenin in postnatal bone acquisition. J Biol Chem 2005, 280:21162-21168.
11. Piters E., Boudin E., Van Hul W. Wnt signaling: a win for bone. Arch Biochem Biophys 2008, 473:112-116.
12. Monroe D.G., McGee-Lawrence M.E., Oursler M.J., Westendorf J.J. Update on Wnt signaling in bone cell biology and bone disease. Gene 2011, 492:1-18.
13. Balemans W., Piters E., Cleiren E., Ai M., Van Wesenbeeck L., Warman M.L., et al. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. Calcif Tissue Int 2008, 82:445-453.
14. Ellies D.L., Viviano B., McCarthy J., Rey J.P., Itasaki N., Saunders S., et al. Bone density ligand, sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity. J Bone Miner Res 2006, 21:1738-1749.
15. Zhang Y., Wang Y., Li X., Zhang J., Mao J., Li Z., et al. The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd. Mol Cell Biol 2004, 24:4677-4684.
16. Krishnan V., Bryant H.U., Macdougald O.A. Regulation of bone mass by Wnt signaling. J Clin Invest 2006, 116:1202-1209.
17. Yadav V.K., Ryu J.H., Suda N., Tanaka K.F., Gingrich J.A., Schutz G., et al. Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum. Cell 2008, 135:825-837.
18. Moon R.T., Kohn A.D., De Ferrari G.V., Kaykas A. WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet 2004, 5:691-701.
19. Glass D.A., Bialek P., Ahn J.D., Starbuck M., Patel M.S., Clevers H., et al. Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation. Dev Cell 2005, 8:751-764.
20. Saarinen A., Saukkonen T., Kivela T., Lahtinen U., Laine C., Somer M., et al. Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clin Endocrinol (Oxf) 2009, 72:481-488.
21. Frost M., Andersen T.E., Yadav V., Brixen K., Karsenty G., Kassem M. Patients with high-bone-mass phenotype owing to Lrp5-T253I mutation have low plasma levels of serotonin. J Bone Miner Res 2010, 25:673-675.
22. Cui Y., Niziolek P.J., MacDonald B.T., Zylstra C.R., Alenina N., Robinson D.R., et al. Lrp5 functions in bone to regulate bone mass. Nat Med 2011, 17:684-691.
23. Goltzman D. LRP5, serotonin, and bone: complexity, contradictions, and conundrums. J Bone Miner Res 2011, 26:1997-2001.
24. Johnson M.L. LRP5 and Bone Mass Regulation: Where are We Now? 2012.
25. Boudin E., Piters E., Fijalkowski I., Stevenheydens G., Steenackers E., Kuismin O., et al. Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis. Bone 2013, 52:292-295.
26. Leupin O., Piters E., Halleux C., Hu S., Kramer I., Morvan F., et al. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J Biol Chem 2011, 286:19489-19500.
27. Balemans W., Patel N., Ebeling M., Van Hul E., Wuyts W., Lacza C., et al. Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 2002, 39:91-97.
28. Balemans W., Foernzler D., Parsons C., Ebeling M., Thompson A., Reid D.M., et al. Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. Bone 2002, 31:515-519.
29. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900.
30. Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31:3812-3814.
31. Ng P.C., Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001, 11:863-874.
32. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
33. Calabrese R., Capriotti E., Fariselli P., Martelli P.L., Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 2009, 30:1237-1244.
34. Li B., Krishnan V.G., Mort M.E., Xin F., Kamati K.K., Cooper D.N., et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009, 25:2744-2750.
35. Berezin C., Glaser F., Rosenberg J., Paz I., Pupko T., Fariselli P., et al. ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics 2004, 20:1322-1324.
36. Dogan R.I., Getoor L., Wilbur W.J., Mount S.M. SplicePort-an interactive splice-site analysis tool. Nucleic Acids Res 2007, 35:W285-W291.
37. Hebsgaard S.M., Korning P.G., Tolstrup N., Engelbrecht J., Rouze P., Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996, 24:3439-3452.
38. Ashkenazy H., Erez E., Martz E., Pupko T., Ben-Tal N. ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res 2010, 38:W529-W533.