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MeSH Review

Melanosomes

 
 
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Disease relevance of Melanosomes

 

High impact information on Melanosomes

  • Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes [6].
  • Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice [7].
  • Some of the clones consisted of cells able to translocate their melanosomes in response to epinephrine, melatonin, or adenosine 3', 5'-monophosphate [8].
  • Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defects in organelles of the endosomal-lysosomal system, most notably melanosomes and platelet-dense granules [9].
  • Expression of siRNA-resistant Slp2-a (Slp2-a(SR)) rescued the peripheral dilution of melanosomes induced by Slp2-a siRNAs, but Slp2-a(SR) mutants, which failed to interact with either phospholipids or Rab27A, did not [10].
 

Chemical compound and disease context of Melanosomes

 

Biological context of Melanosomes

 

Anatomical context of Melanosomes

  • Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles [20].
  • A much slower dispersion (mean time of onset, 19.0 +/- 5.0 min) of melanosomes was observed when the microelectrode was positioned adjacent to a melanophore, and much larger quantities of cyclic AMP were released [21].
  • We found that GM95 cells do not make melanin pigment because tyrosinase, the first and rate-limiting enzyme in melanin synthesis, was not targeted to melanosomes but accumulated in the Golgi complex [22].
  • Taken together, these observations suggest that HPS1 and HPS4 are components of a protein complex that regulates the intracellular localization of lysosomes and late endosomes and may function in a BLOC-1-dependent pathway for melanosome biogenesis [23].
  • However, this part of the K5 head domain is likely to protrude on the filament surface, perhaps leading to additional aberrations in intermediate filament architecture and/or in melanosome distribution that are seen ultrastructurally in patients with the mutation [24].
 

Associations of Melanosomes with chemical compounds

  • The melanosome DNA could not be distinguished from nuclear and mitochondrial DNA by the amount of tritiated thymidine incorporated [25].
  • Low-density sucrose fractions were found by electron microscopy to be enriched in stage I and stage II melanosomes, and these fractions were further separated and purified by free flow electrophoresis [26].
  • In melanophores, light increases the intracellular level of inositol trisphosphate and causes the dispersion of melanosomes [27].
  • The content of free and protein-bound DOPA and 5-S-cysteinyldopa varied greatly in B16, HP, and sepia melanosomes and was unrelated to melanin content [28].
  • This transport system is critical to the function of the melanosome since tyrosine is the essential substrate required for the synthesis of the pigment melanin [29].
 

Gene context of Melanosomes

 

Analytical, diagnostic and therapeutic context of Melanosomes

References

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  19. Lysosomal hydrolases are present in melanosomes and are elevated in melanizing cells. Diment, S., Eidelman, M., Rodriguez, G.M., Orlow, S.J. J. Biol. Chem. (1995) [Pubmed]
  20. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Kantheti, P., Qiao, X., Diaz, M.E., Peden, A.A., Meyer, G.E., Carskadon, S.L., Kapfhamer, D., Sufalko, D., Robinson, M.S., Noebels, J.L., Burmeister, M. Neuron (1998) [Pubmed]
  21. Iontophoretic release of cyclic AMP and dispersion of melanosomes within a single melanophore. Geschwind, I.I., Horowitz, J.M., Mikuckis, G.M., Dewey, R.D. J. Cell Biol. (1977) [Pubmed]
  22. Glycosphingolipids are required for sorting melanosomal proteins in the Golgi complex. Sprong, H., Degroote, S., Claessens, T., van Drunen, J., Oorschot, V., Westerink, B.H., Hirabayashi, Y., Klumperman, J., van der Sluijs, P., van Meer, G. J. Cell Biol. (2001) [Pubmed]
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