GDF5

Growth differentiation factor 5 (cartilage-derived morphogenetic protein-1), also known as GDF5, is a human gene.cite web | title = Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8200| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and 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.cite web | title = Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8200| accessdate = ]

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, [cite journal |author=O'Keeffe G, Dockery P, Sullivan A |title=Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro |journal=J Neurocytol |volume=33 |issue=5 |pages=479–88 |year=2004 |pmid=15906156 |doi=10.1007/s11068-004-0511-y] and has a role in skeletal and joint development. [cite journal |author=Buxton P, Edwards C, Archer C, Francis-West P |title=Growth/differentiation factor-5 (GDF-5) and skeletal development |journal=J Bone Joint Surg Am |volume=83-A Suppl 1 |issue=Pt 1 |pages=S23–30 |year=2001 |pmid=11263662] [cite journal |author=Francis-West P, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, Allen S, MacPherson S, Luyten F, Archer C |title=Mechanisms of GDF-5 action during skeletal development |journal=Development |volume=126 |issue=6 |pages=1305–15 |year=1999 |pmid=10021348] [cite journal |author=Francis-West P, Parish J, Lee K, Archer C |title=BMP/GDF-signalling interactions during synovial joint development |journal=Cell Tissue Res |volume=296 |issue=1 |pages=111–9 |year=1999 |pmid=10199971 |doi=10.1007/s004410051272] It also increases the survival of neurones that respond to a neurotransmitter called dopamine, and is a potential therapeutic molecule associated with Parkinson's disease. [cite journal |author=Sullivan A, O'Keeffe G |title=The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment |journal=J Anat |volume=207 |issue=3 |pages=219–26 |year=2005 |pmid=16185246 |doi=10.1111/j.1469-7580.2005.00447.x]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Reddi AH |title=Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix. |journal=Matrix Biol. |volume=14 |issue= 8 |pages= 599–606 |year= 1997 |pmid= 9057810 |doi=
*cite journal | author=Luyten FP |title=Cartilage-derived morphogenetic protein-1. |journal=Int. J. Biochem. Cell Biol. |volume=29 |issue= 11 |pages= 1241–4 |year= 1998 |pmid= 9451821 |doi=
*cite journal | author=Ducy P, Karsenty G |title=The family of bone morphogenetic proteins. |journal=Kidney Int. |volume=57 |issue= 6 |pages= 2207–14 |year= 2000 |pmid= 10844590 |doi= 10.1046/j.1523-1755.2000.00081.x
*cite journal | author=Faiyaz-Ul-Haque M, Ahmad W, Wahab A, "et al." |title=Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. |journal=Am. J. Med. Genet. |volume=111 |issue= 1 |pages= 31–7 |year= 2003 |pmid= 12124730 |doi= 10.1002/ajmg.10501
*cite journal | author=Chang SC, Hoang B, Thomas JT, "et al." |title=Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. |journal=J. Biol. Chem. |volume=269 |issue= 45 |pages= 28227–34 |year= 1994 |pmid= 7961761 |doi=
*cite journal | author=Hötten G, Neidhardt H, Jacobowsky B, Pohl J |title=Cloning and expression of recombinant human growth/differentiation factor 5. |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 2 |pages= 646–52 |year= 1994 |pmid= 7980526 |doi= 10.1006/bbrc.1994.2508
*cite journal | author=Thomas JT, Lin K, Nandedkar M, "et al." |title=A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. |journal=Nat. Genet. |volume=12 |issue= 3 |pages= 315–7 |year= 1996 |pmid= 8589725 |doi= 10.1038/ng0396-315
*cite journal | author=Lin K, Thomas JT, McBride OW, Luyten FP |title=Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2. |journal=Genomics |volume=34 |issue= 1 |pages= 150–1 |year= 1996 |pmid= 8661040 |doi= 10.1006/geno.1996.0257
*cite journal | author=Nishitoh H, Ichijo H, Kimura M, "et al." |title=Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. |journal=J. Biol. Chem. |volume=271 |issue= 35 |pages= 21345–52 |year= 1996 |pmid= 8702914 |doi=
*cite journal | author=Polinkovsky A, Robin NH, Thomas JT, "et al." |title=Mutations in CDMP1 cause autosomal dominant brachydactyly type C. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 18–9 |year= 1997 |pmid= 9288091 |doi= 10.1038/ng0997-18
*cite journal | author=Thomas JT, Kilpatrick MW, Lin K, "et al." |title=Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 58–64 |year= 1997 |pmid= 9288098 |doi= 10.1038/ng0997-58
*cite journal | author=Erlacher L, McCartney J, Piek E, "et al." |title=Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis. |journal=J. Bone Miner. Res. |volume=13 |issue= 3 |pages= 383–92 |year= 1998 |pmid= 9525338 |doi=
*cite journal | author=Sugiura T, Hötten G, Kawai S |title=Minimal promoter components of the human growth/differentiation factor-5 gene. |journal=Biochem. Biophys. Res. Commun. |volume=263 |issue= 3 |pages= 707–13 |year= 1999 |pmid= 10512744 |doi= 10.1006/bbrc.1999.1445
*cite journal | author=Aoki H, Fujii M, Imamura T, "et al." |title=Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction. |journal=J. Cell. Sci. |volume=114 |issue= Pt 8 |pages= 1483–9 |year= 2001 |pmid= 11282024 |doi=
*cite journal | author=Deloukas P, Matthews LH, Ashurst J, "et al." |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a
*cite journal | author=Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, "et al." |title=Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). |journal=Clin. Genet. |volume=61 |issue= 6 |pages= 454–8 |year= 2003 |pmid= 12121354 |doi=

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