GDF5

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Growth differentiation factor 5
Protein GDF5 PDB 1waq.png
PDB rendering based on 1waq.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GDF5 ; BDA1C; BMP-14; BMP14; CDMP1; LAP-4; LAP4; OS5; SYM1B; SYNS2
External IDs OMIM601146 MGI95688 HomoloGene468 GeneCards: GDF5 Gene
RNA expression pattern
PBB GE GDF5 206614 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8200 14563
Ensembl ENSG00000125965 ENSMUSG00000038259
UniProt P43026 P43027
RefSeq (mRNA) NM_000557 NM_008109
RefSeq (protein) NP_000548 NP_032135
Location (UCSC) Chr 20:
34.02 – 34.04 Mb
Chr 2:
155.94 – 155.95 Mb
PubMed search [1] [2]

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.[1][2][3]

The protein encoded by this gene is closely related to the bone morphogenetic protein (BMP) family and is a member of the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.[3]

Growth differentiation factor 5 (GDF5) is a protein belonging to the transforming growth factor beta superfamily that is expressed in the developing central nervous system,[4] and has a role in skeletal and joint development.[5][6][7] It also increases the survival of neurones that respond to the neurotransmitter dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.[8]


References[edit]

  1. ^ Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML (Oct 1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet 17 (1): 18–9. doi:10.1038/ng0997-18. PMID 9288091. 
  2. ^ Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP (Oct 1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1". Nat Genet 17 (1): 58–64. doi:10.1038/ng0997-58. PMID 9288098. 
  3. ^ a b "Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)". 
  4. ^ O'Keeffe G, Dockery P, Sullivan A (2004). "Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro". J Neurocytol 33 (5): 479–88. doi:10.1007/s11068-004-0511-y. PMID 15906156. 
  5. ^ Buxton P, Edwards C, Archer C, Francis-West P (2001). "Growth/differentiation factor-5 (GDF-5) and skeletal development". J Bone Joint Surg Am. 83-A Suppl 1 (Pt 1): S23–30. PMID 11263662. 
  6. ^ Francis-West P, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, Allen S, MacPherson S, Luyten F, Archer C (1999). "Mechanisms of GDF-5 action during skeletal development". Development 126 (6): 1305–15. PMID 10021348. 
  7. ^ Francis-West P, Parish J, Lee K, Archer C (1999). "BMP/GDF-signalling interactions during synovial joint development". Cell Tissue Res 296 (1): 111–9. doi:10.1007/s004410051272. PMID 10199971. 
  8. ^ Sullivan A, O'Keeffe G (2005). "The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment". J Anat 207 (3): 219–26. doi:10.1111/j.1469-7580.2005.00447.x. PMC 1571542. PMID 16185246. 

Further reading[edit]

  • Reddi AH (1997). "Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix". Matrix Biol. 14 (8): 599–606. doi:10.1016/S0945-053X(05)80024-1. PMID 9057810. 
  • Luyten FP (1998). "Cartilage-derived morphogenetic protein-1". Int. J. Biochem. Cell Biol. 29 (11): 1241–4. doi:10.1016/S1357-2725(97)00025-3. PMID 9451821. 
  • Ducy P, Karsenty G (2000). "The family of bone morphogenetic proteins". Kidney Int. 57 (6): 2207–14. doi:10.1046/j.1523-1755.2000.00081.x. PMID 10844590. 
  • Faiyaz-Ul-Haque M, Ahmad W, Wahab A, et al. (2003). "Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia". American Journal of Medical Genetics 111 (1): 31–7. doi:10.1002/ajmg.10501. PMID 12124730. 
  • Chang SC, Hoang B, Thomas JT, et al. (1994). "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development". J. Biol. Chem. 269 (45): 28227–34. PMID 7961761. 
  • Hötten G, Neidhardt H, Jacobowsky B, Pohl J (1994). "Cloning and expression of recombinant human growth/differentiation factor 5". Biochem. Biophys. Res. Commun. 204 (2): 646–52. doi:10.1006/bbrc.1994.2508. PMID 7980526. 
  • Thomas JT, Lin K, Nandedkar M, et al. (1996). "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member". Nat. Genet. 12 (3): 315–7. doi:10.1038/ng0396-315. PMID 8589725. 
  • Lin K, Thomas JT, McBride OW, Luyten FP (1996). "Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2". Genomics 34 (1): 150–1. doi:10.1006/geno.1996.0257. PMID 8661040. 
  • Nishitoh H, Ichijo H, Kimura M, et al. (1996). "Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5". J. Biol. Chem. 271 (35): 21345–52. doi:10.1074/jbc.271.35.21345. PMID 8702914. 
  • Erlacher L, McCartney J, Piek E, et al. (1998). "Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis". J. Bone Miner. Res. 13 (3): 383–92. doi:10.1359/jbmr.1998.13.3.383. PMID 9525338. 
  • Sugiura T, Hötten G, Kawai S (1999). "Minimal promoter components of the human growth/differentiation factor-5 gene". Biochem. Biophys. Res. Commun. 263 (3): 707–13. doi:10.1006/bbrc.1999.1445. PMID 10512744. 
  • Aoki H, Fujii M, Imamura T, et al. (2001). "Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction". J. Cell. Sci. 114 (Pt 8): 1483–9. PMID 11282024. 
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052. 
  • Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al. (2003). "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clin. Genet. 61 (6): 454–8. doi:10.1034/j.1399-0004.2002.610610.x. PMID 12121354.