Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.[5][6][7]
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 osteochondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development.[7]
GDF5 is expressed in the developing central nervous system,[8] and has a role in skeletal and joint development.[9][10][11] It also increases the survival of neurones that respond to the neurotransmitter dopamine, and is a potential therapeutic molecule associated with Parkinson's disease.[12]
^ abcGRCh38: Ensembl release 89: ENSG00000125965 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000038259 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. hdl:2066/24464. PMID 9288091. S2CID 6580906.
^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. S2CID 31479619.
^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. S2CID 25940876.
^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. doi:10.1242/dev.126.6.1305. 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. S2CID 21942870.
^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.
Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene. The protein encoded by this gene is closely related to the bone morphogenetic...
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hypoplastic or absent ulna and short metacarpal bones. Type A2, BDA2 112600 BMPR1B GDF5 20q11.2, 4q23-q24 Brachydactyly type A2, Brachymesophalangy II or Brachydactyly...
Kenji; Nishimura, Riko (23 April 2022). "Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis". International...
the head and trunk. This condition is associated with alterations to the GDF5 (also known as CDMP1) gene. The way that this condition is passed on from...
cases, this disorder has a known genetic cause: mutations in the NOG and GDF5 genes. Mutations responsible for other symphalangism syndromes were not found...
cysteines which can form disulfide bridges. It is believed that DAN antagonizes GDF5, GDF6 and GDF7. Follistatin inhibits Activin, which it binds. It directly...
chromosome codes for a protein known as growth and development factor-5 (GDF5). AMD with genital anomalies has a gene located at chromosome 4q23-24; this...
SYNS. A mutation in Noggin (NOG) and the Growth Differentiation Factor 5 (GDF5) are the other two causes of SYNS. The S99N mutation results in cell signaling...
function; it both inhibits and induces early stages of development in embryos. GDF5 is expressed in the developing central nervous system, with roles in the...
constitutively active BMPR1B receptors. BMPR1B is a more effective transducer of GDF5 than BMPR1A. Unlike BMPR1A null mice, which die at an early embryonic stage...
patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes". Dev. Biol. 254 (1): 116–30. doi:10.1016/S0012-1606(02)00022-2. PMID 12606286...
synovial joints during limb development. where it overlaps with expression of Gdf5, an early marker for joint formation. Mouse embryonic limb muscle connective...
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