GDF5

From Wikipedia, the free encyclopedia

Growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)

PDB rendering based on 1waq.

Available structures: 1waq, 2bhk

Identifiers

Symbol(s)

GDF5; CDMP1; LAP4; SYNS2

External IDs

OMIM: 601146 MGI: 95688 HomoloGene: 468

Gene ontology
Molecular Function:	• cytokine activity • protein binding • growth factor activity
Cellular Component:	• extracellular space
Biological Process:	• transforming growth factor beta receptor signaling pathway • cell-cell signaling • embryonic limb morphogenesis • growth • regulation of apoptosis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000557 (mRNA)
NP_000548 (protein)

NM_008109 (mRNA)
NP_032135 (protein)

Location

Chr 20: 33.48 - 33.51 Mb

Chr 2: 155.63 - 155.64 Mb

Pubmed search

[1]

[2]

Growth differentiation factor 5 (cartilage-derived morphogenetic protein-1), also known as GDF5, is a human gene.^[1]

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.^[1]

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,^[2] and has a role in skeletal and joint development.^[3]^[4]^[5] 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.^[6]

[edit] References

^ ^a ^b Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1).
^ 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.
^ 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.
^ 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.
^ 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.
^ 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. PMID 16185246.

[edit] 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. PMID 9057810.
Luyten FP (1998). "Cartilage-derived morphogenetic protein-1.". Int. J. Biochem. Cell Biol. 29 (11): 1241–4. 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.". Am. J. Med. Genet. 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. PMID 8702914.
Polinkovsky A, Robin NH, Thomas JT, et al. (1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C.". Nat. Genet. 17 (1): 18–9. doi:10.1038/ng0997-18. PMID 9288091.
Thomas JT, Kilpatrick MW, Lin K, et al. (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.
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. 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. PMID 12121354.

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v • d • e Cell signaling: TGF beta signaling pathway

TGF beta superfamily of ligands	TGF beta family (TGF-β1, TGF-β2, TGF-β3) Bone morphogenetic proteins (BMP2, BMP3, BMP4, BMP5, BMP6, BMP7, BMP8a, BMP8b, BMP10 , BMP15) Growth differentiation factors (GDF1, GDF2, GDF3, GDF5, GDF6, GDF7, Myostatin/GDF8, GDF9, GDF10, GDF11, GDF15) Other (Activin A and B/Inhibin A and B, Anti-müllerian hormone, Nodal)

TGF beta receptors	TGFBR1: Activin type 1 receptors (ACVR1, ACVR1B, ACVR1C) - ACVRL1 - BMPR1 (BMPR1A - BMPR1B) TGFBR2: Activin type 2 receptors (ACVR2A, ACVR2B) - AMHR2 - BMPR2 TGFBR3: betaglycan

Transducers/SMAD	R-SMAD (SMAD1, SMAD2, SMAD3, SMAD5, SMAD9) - I-SMAD (SMAD6, SMAD7) - SMAD4

Ligand Inhibitors	Cerberus - Chordin - DAN - Decorin - Follistatin - Gremlin - Lefty - LTBP1 - Noggin - THBS1

Coreceptors	BAMBI - Cripto

Other	SARA

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GDF5

From Wikipedia, the free encyclopedia

[edit] References

[edit] Further reading

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