GDF5

GDF5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases GDF5, BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2, growth differentiation factor 5
External IDs OMIM: 601146 MGI: 95688 HomoloGene: 468 GeneCards: GDF5
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

8200

14563

Ensembl

ENSG00000125965

ENSMUSG00000038259

UniProt

P43026

P43027

RefSeq (mRNA)

NM_000557
NM_001319138

NM_008109

RefSeq (protein)

NP_000548.2
NP_001306067.1

NP_032135.2

Location (UCSC) Chr 20: 35.43 – 35.45 Mb Chr 2: 155.94 – 155.95 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.[3][4][5]

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.[5]

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,[6] and has a role in skeletal and joint development.[7][8][9] It also increases the survival of neurones that respond to the neurotransmitter dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.[10]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ 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.
  4. ↑ 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.
  5. 1 2 "Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)".
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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 1571542Freely accessible. PMID 16185246.

Further reading

  • 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. 


This article is issued from Wikipedia - version of the 5/31/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.