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Gene Review

PMEL  -  premelanosome protein

Gallus gallus

Synonyms: MMP115, SILV
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Disease relevance of SILV


High impact information on SILV

  • Our results show that extraocular mesenchyme is required for the induction and maintenance of expression of the RPE-specific genes Mitf and Wnt13 and the melanosomal matrix protein MMP115 [2].
  • In the dedifferentiation process, expression of the c-myc gene was enhanced and the transcription of PEC-specific genes (MMP115, pP344) was completely repressed [3].
  • Immunohistochemistry was used to examine pErk, Pax6, Mitf, and melanosomal matrix protein 115 (MMP115) immunoreactivity and bromodeoxyuridine (BrdU) incorporation at different time points after removing the retina [4].
  • The expression of melanosomal matrix glycoprotein 115 (MMP115), a marker of differentiated pigment cells, was also markedly suppressed (to 52.2+/-6.6%) (P<0.0005) [5].
  • Southern blot analysis has revealed that the homologues of the chicken MMP115 gene are found in many vertebrate genomes [1].

Biological context of SILV


Anatomical context of SILV

  • Chicken 115-kDa melanosomal matrix protein (MMP115) was purified from cultured pigmented epithelial cells (PECs), and mouse antiserum was raised to isolate cDNA clones. lambda gt11 expression library made from poly(A)+ RNA of the homogeneous population of PECs was screened with the antiserum [6].

Analytical, diagnostic and therapeutic context of SILV

  • The beta-galactosidase fusion protein from the longest insert (MM-2, 1.0 kb long) was recognized by the anti-MMP115 antiserum in immunoblotting, and the antibody, which was affinity-selected by the fusion protein, specifically reacted with the 115-kDa protein in PEC extracts [6].
  • Sequence analysis showed that the Dominant white allele was exclusively associated with a 9-bp insertion in exon 10, leading to an insertion of three amino acids in the PMEL17 transmembrane region [7].


  1. Complete sequence and expression of a cDNA encoding a chicken 115-kDa melanosomal matrix protein. Mochii, M., Agata, K., Eguchi, G. Pigment Cell Res. (1991) [Pubmed]
  2. Extraocular mesenchyme patterns the optic vesicle during early eye development in the embryonic chick. Fuhrmann, S., Levine, E.M., Reh, T.A. Development (2000) [Pubmed]
  3. Genetic characterization of the multipotent dedifferentiated state of pigmented epithelial cells in vitro. Agata, K., Kobayashi, H., Itoh, Y., Mochii, M., Sawada, K., Eguchi, G. Development (1993) [Pubmed]
  4. Retina regeneration in the chick embryo is not induced by spontaneous Mitf downregulation but requires FGF/FGFR/MEK/Erk dependent upregulation of Pax6. Spence, J.R., Madhavan, M., Aycinena, J.C., Del Rio-Tsonis, K. Mol. Vis. (2007) [Pubmed]
  5. Suppression of Mitf by small interfering RNA induces dedifferentiation of chick embryonic retinal pigment epithelium. Iwakiri, R., Kobayashi, K., Okinami, S., Kobayashi, H. Exp. Eye Res. (2005) [Pubmed]
  6. Expression of gene coding for a melanosomal matrix protein transcriptionally regulated in the transdifferentiation of chick embryo pigmented epithelial cells. Mochii, M., Agata, K., Kobayashi, H., Yamamoto, T.S., Eguchi, G. Cell Differ. (1988) [Pubmed]
  7. The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene. Kerje, S., Sharma, P., Gunnarsson, U., Kim, H., Bagchi, S., Fredriksson, R., Schütz, K., Jensen, P., von Heijne, G., Okimoto, R., Andersson, L. Genetics (2004) [Pubmed]
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