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SOST

From Wikidoc - Reading time: 5 min


Sclerosteosis
Identifiers
Symbols SOST ; VBCH
External IDs Template:OMIM5 Template:MGI HomoloGene: 11542
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Sclerostin, also known as SOST, is a human gene.[1]

Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease.[1]

References[edit | edit source]

  1. ↑ 1.0 1.1 "Entrez Gene: SOST sclerosteosis".

Further reading[edit | edit source]

  • Balemans W, Van Hul W (2007). "Human genetics of SOST". Journal of musculoskeletal & neuronal interactions. 6 (4): 355–6. PMID 17185822.
  • Brunkow ME, Gardner JC, Van Ness J; et al. (2001). "Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein". Am. J. Hum. Genet. 68 (3): 577–89. PMID 11179006.
  • Balemans W, Ebeling M, Patel N; et al. (2001). "Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)". Hum. Mol. Genet. 10 (5): 537–43. PMID 11181578.
  • Balemans W, Patel N, Ebeling M; et al. (2002). "Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease". J. Med. Genet. 39 (2): 91–7. PMID 11836356.
  • Staehling-Hampton K, Proll S, Paeper BW; et al. (2002). "A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population". Am. J. Med. Genet. 110 (2): 144–52. doi:10.1002/ajmg.10401. PMID 12116252.
  • Balemans W, Foernzler D, Parsons C; et al. (2003). "Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms". Bone. 31 (4): 515–9. PMID 12398949.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
  • Winkler DG, Sutherland MK, Geoghegan JC; et al. (2004). "Osteocyte control of bone formation via sclerostin, a novel BMP antagonist". EMBO J. 22 (23): 6267–76. doi:10.1093/emboj/cdg599. PMID 14633986.
  • Sevetson B, Taylor S, Pan Y (2004). "Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST)". J. Biol. Chem. 279 (14): 13849–58. doi:10.1074/jbc.M306249200. PMID 14739291.
  • van Bezooijen RL, Roelen BA, Visser A; et al. (2004). "Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist". J. Exp. Med. 199 (6): 805–14. doi:10.1084/jem.20031454. PMID 15024046.
  • Winkler DG, Yu C, Geoghegan JC; et al. (2004). "Noggin and sclerostin bone morphogenetic protein antagonists form a mutually inhibitory complex". J. Biol. Chem. 279 (35): 36293–8. doi:10.1074/jbc.M400521200. PMID 15199066.
  • Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMID 15340161.
  • Sutherland MK, Geoghegan JC, Yu C; et al. (2005). "Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation". Bone. 35 (4): 828–35. doi:10.1016/j.bone.2004.05.023. PMID 15454089.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Uitterlinden AG, Arp PP, Paeper BW; et al. (2005). "Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites". Am. J. Hum. Genet. 75 (6): 1032–45. doi:10.1086/426458. PMID 15514891.
  • Winkler DG, Sutherland MS, Ojala E; et al. (2005). "Sclerostin inhibition of Wnt-3a-induced C3H10T1/2 cell differentiation is indirect and mediated by bone morphogenetic proteins". J. Biol. Chem. 280 (4): 2498–502. doi:10.1074/jbc.M400524200. PMID 15545262.
  • Poole KE, van Bezooijen RL, Loveridge N; et al. (2006). "Sclerostin is a delayed secreted product of osteocytes that inhibits bone formation". FASEB J. 19 (13): 1842–4. doi:10.1096/fj.05-4221fje. PMID 16123173.
  • Gardner JC, van Bezooijen RL, Mervis B; et al. (2006). "Bone mineral density in sclerosteosis; affected individuals and gene carriers". J. Clin. Endocrinol. Metab. 90 (12): 6392–5. doi:10.1210/jc.2005-1235. PMID 16189254.
  • Ellies DL, Viviano B, McCarthy J; et al. (2007). "Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity". J. Bone Miner. Res. 21 (11): 1738–49. doi:10.1359/jbmr.060810. PMID 17002572.

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