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Gene Review

GDF6  -  growth differentiation factor 6

Homo sapiens

 
 
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Disease relevance of GDF6

  • The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development [1].
 

High impact information on GDF6

  • We also demonstrate that the segmental deletion encompasses GDF6, encoding a member of the bone-morphogenetic protein family, and that inhibition of gdf6a in a model organism accurately recapitulates the proband's phenotype [1].
  • Here, we show that BMP6, BMP7, GDF5, and GDF6 instructively differentiate E12, E14, and E17 rat cortical NSCs into a variety of neural crest lineages [2].
  • Mutational analysis of two candidate genes (FZD6, GDF6) did not identify any mutations in affected members of this family [3].
  • GDF6 knock down resulted in an increase in cell death along the neural tube and within the retina as determined by terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) staining [4].
  • CONCLUSION: Our data demonstrate that GDF6 has an important role in neural differentiation in the eye as well as within the central nervous system, and that GDF6 may act in some way to maintain cell survival within the ectoderm, during the normal waves of programmed cell death [4].
 

Other interactions of GDF6

  • BACKGROUND: In Xenopus the bone morphogenetic protein growth and differentiation factor 6 (GDF6) is expressed at the edge of the neural plate, and within the anterior neural plate including the eye fields [4].

References

  1. GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies. Asai-Coakwell, M., French, C.R., Berry, K.M., Ye, M., Koss, R., Somerville, M., Mueller, R., van Heyningen, V., Waskiewicz, A.J., Lehmann, O.J. Am. J. Hum. Genet. (2007) [Pubmed]
  2. BMP signaling initiates a neural crest differentiation program in embryonic rat CNS stem cells. Gajavelli, S., Wood, P.M., Pennica, D., Whittemore, S.R., Tsoulfas, P. Exp. Neurol. (2004) [Pubmed]
  3. Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. Gurnett, C.A., Dobbs, M.B., Nordsieck, E.J., Keppel, C., Goldfarb, C.A., Morcuende, J.A., Bowcock, A.M. Am. J. Med. Genet. A (2006) [Pubmed]
  4. Eye and neural defects associated with loss of GDF6. Hanel, M.L., Hensey, C. BMC Dev. Biol. (2006) [Pubmed]
 
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