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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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SOST

Introduction

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

References

  1. ↑ 1.0 1.1 “Entrez Gene: SOST sclerosteosis”.
Further reading

Further reading

  • 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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