Biology:GDF6

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.[1]

Function

GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins,[2] and control eye development.[3][4]

Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of the epidermis[5] and bone and joint formation.[6] GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect.[5] GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural induction and patterning in developing embryos.[5] By developing a GDF6 “knockout” model, scientists repressed expression of GDF6 in developing mice embryos. Through this experiment, the scientists were able to directly link GDF6 with several skull and vertebral joint disorders, such as scoliosis and chondrodysplasia, Grebe type.[6]

Clinical significance

GDF6 is recurrently amplified and specifically expressed in 80% of the melanomas. Patients with less GDF6 had a lower risk of metastasis and a higher chance of survival. Since GDF6 expression is very low or undetectable in most healthy adult tissues its inhibition could be used to treat this lethal disease.[7][unreliable medical source]

References

  1. ↑ "Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily". Genome Res. 9 (2): 121–9. February 1999. doi:10.1101/gr.9.2.121. PMID 10022976. 
  2. ↑ "Xenopus GDF6, a new antagonist of noggin and a partner of BMPs". Development 126 (15): 3347–57. 1999. doi:10.1242/dev.126.15.3347. PMID 10393114. 
  3. ↑ "GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies". Am J Hum Genet 80 (2): 306–15. 2007. doi:10.1086/511280. PMID 17236135. 
  4. ↑ "Eye and neural defects associated with loss of GDF6". BMC Dev Biol 6: 43. 2006. doi:10.1186/1471-213X-6-43. PMID 17010201. 
  5. ↑ 5.0 5.1 5.2 "Xenopus GDF6, a new antagonist of noggin and a partner of BMPs". Development 126 (15): 3347–57. August 1999. doi:10.1242/dev.126.15.3347. PMID 10393114. 
  6. ↑ 6.0 6.1 "Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes". Dev. Biol. 254 (1): 116–30. February 2003. doi:10.1016/S0012-1606(02)00022-2. PMID 12606286. 
  7. ↑ "Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma". The Journal of Clinical Investigation 128 (1): 294–308. 2017. doi:10.1172/JCI92513. PMID 29202482. 

Further reading




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