Sandbox Reserved 1097: Difference between revisions

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*P513R is located in the flexible cytoplasmic domain and interferes with the translocation of the enzyme to the melanosomal membrane.  
*P513R is located in the flexible cytoplasmic domain and interferes with the translocation of the enzyme to the melanosomal membrane.  
The phenotypical expression of the missense mutations T253M and M452V are yet to be confirmed whereas the other point mutations are pathological.<ref name= "lai"/> Affected individuals have red coloured hair and rufous skin complexion. However, since OCA3 permits some melanin accumulation over time, the hypopigmentation does not suffice to alter the eye development. Thus, feature bearers may possess a green iris but no significant visual anomalies.<ref name = "grønskov"/>
The phenotypical expression of the missense mutations T253M and M452V are yet to be confirmed whereas the other point mutations are pathological.<ref name= "lai"/> Affected individuals have red coloured hair and rufous skin complexion. However, since OCA3 permits some melanin accumulation over time, the hypopigmentation does not suffice to alter the eye development. Thus, feature bearers may possess a green iris but no significant visual anomalies.<ref name = "grønskov"/>
===Melanoma===
Melanoma is a malignant proliferation of the pigment-forming cells which spreads metastasis through the lymph system and blood stream. Abnormalities primarily occur in the skin (cutaneous melanoma) but may also be found in the vascular layer of the eye (uveal melanoma), the central nervous system (leptomeningeal melanoma) or the mucous membranes of mouth, nose, intestines, anus and vagina (mucosal melanoma).
In order to describe the extent of disease progression, the staging system by the [https://cancerstaging.org/Pages/default.aspx American Joint Committee on Cancer] (AJCC) and the [https://www.uicc.org/ Union for International Cancer Control] (UICC) is applied whereat the key features are tumor size, lymph node involvement and metastasis spread (TLM).<ref name= "cancer report"/> <br />
Despite the significant histopathological criteria, the clinical behavior of melanoma is, due to various biological subtypes, often unpredictable. However, microarray analysis and molecular profiling of skin metastasis indicate that the TYRPI mRNA expression level is a prognostic marker for Melanoma. A high transcript amount correlates with short patient survival whereat the distant [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/797421 metastasis-free survival] (DMFS), [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/overall-survival overall survival] (OS) and [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/breslow-thickness Breslow thickness] are affected.<ref name= "journe"/>
==References==
==References==
<ref name="ghanem"/> Ghanem, G., & Fabrice, J. (2011). Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanoma. Molecular oncology, 5(2), 150–155. doi:10.1016/j.molonc.2011.01.006
<ref name="ghanem"/> Ghanem, G., & Fabrice, J. (2011). Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanoma. Molecular oncology, 5(2), 150–155. doi:10.1016/j.molonc.2011.01.006
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<ref name="chen"/> Chen H., Salopek T.G., Jimbow K., 2001. The role of phosphoinositide 3-kinase in the sorting and transport of newly synthesized tyrosinase related protein-1 (TRP1). J. Investig. Dermatol. Symp. Proc.. 6, (1) 105–114 PMID: 21324755
<ref name="chen"/> Chen H., Salopek T.G., Jimbow K., 2001. The role of phosphoinositide 3-kinase in the sorting and transport of newly synthesized tyrosinase related protein-1 (TRP1). J. Investig. Dermatol. Symp. Proc.. 6, (1) 105–114 PMID: 21324755
https://www.jidsponline.org/article/S0022-202X(15)52884-4/fulltext
<br />https://www.jidsponline.org/article/S0022-202X(15)52884-4/fulltext


<ref name= "liu"/> Liu T.F., Kandala G., Setaluri V., 2001. PDZ-domain protein GIPC interacts with the cytoplasmic tail of melanosomal membrane protein gp75 (tyrosinase related protein-1). J. Biol. Chem.. 276, 35768–35777 PMID: 11441007 doi: 10.1074/jbc.M103585200  
<ref name= "liu"/> Liu T.F., Kandala G., Setaluri V., 2001. PDZ-domain protein GIPC interacts with the cytoplasmic tail of melanosomal membrane protein gp75 (tyrosinase related protein-1). J. Biol. Chem.. 276, 35768–35777 PMID: 11441007 doi: 10.1074/jbc.M103585200  
http://www.jbc.org/content/276/38/35768.full
<br />http://www.jbc.org/content/276/38/35768.full


<ref name= "koba"/> Kobayashi, T., Urabe, K., Winder, A., Jiménez-Cervantes, C., Imokawa, G., Brewington, T., … Hearing, V. J. (1994). Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. The EMBO journal, 13(24), 5818–5825.
<ref name= "koba"/> Kobayashi, T., Urabe, K., Winder, A., Jiménez-Cervantes, C., Imokawa, G., Brewington, T., … Hearing, V. J. (1994). Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. The EMBO journal, 13(24), 5818–5825.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC395555/
<br />https://www.ncbi.nlm.nih.gov/pmc/articles/PMC395555/


<ref name= "lai"/> Lai, X., Wichers, H. J., Soler-Lopez, M., & Dijkstra, B. W. (2017). Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis. Angewandte Chemie (International ed. in English), 56(33), 9812–9815. doi:10.1002/anie.201704616
<ref name= "lai"/> Lai, X., Wichers, H. J., Soler-Lopez, M., & Dijkstra, B. W. (2017). Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis. Angewandte Chemie (International ed. in English), 56(33), 9812–9815. doi:10.1002/anie.201704616
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601231/
<br />https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601231/


<ref name="Xlai"/> Xuelei Lai, Harry J. Wichers, Montserrat Soler‐Lopez, Bauke W. Dijkstra. Structure and Function of Human Tyrosinase and Tyrosinase‐Related Proteins. 2018 Jan 2 Epub 2017 Nov 28 PMID: 29052256 https://www.ncbi.nlm.nih.gov/pubmed/29052256 doi: 10.1002/chem.201704410
<ref name="Xlai"/> Xuelei Lai, Harry J. Wichers, Montserrat Soler‐Lopez, Bauke W. Dijkstra. Structure and Function of Human Tyrosinase and Tyrosinase‐Related Proteins. 2018 Jan 2 Epub 2017 Nov 28 PMID: 29052256 https://www.ncbi.nlm.nih.gov/pubmed/29052256 doi: 10.1002/chem.201704410
https://onlinelibrary.wiley.com/doi/abs/10.1002/chem.201704410
<br />https://onlinelibrary.wiley.com/doi/abs/10.1002/chem.201704410


<ref name= "box"/> Box N.F., Wyeth J.R., Mayne C.J., O'Gorman L.E., Martin N.G., Sturm R.A., 1998. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein. Mamm. Genome. 9, 50–53 PMID:9434945 doi:10.1007/s003359900678
<ref name= "box"/> Box N.F., Wyeth J.R., Mayne C.J., O'Gorman L.E., Martin N.G., Sturm R.A., 1998. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein. Mamm. Genome. 9, 50–53 PMID:9434945 doi:10.1007/s003359900678
https://link.springer.com/article/10.1007/s003359900678#citeas
<br />https://link.springer.com/article/10.1007/s003359900678#citeas


<ref name= "vija"/> Vijayasaradhi, S., Bouchard, B., & Houghton, A. N. (1990). The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product. The Journal of experimental medicine, 171(4), 1375–1380. doi:10.1084/jem.171.4.1375
<ref name= "vija"/> Vijayasaradhi, S., Bouchard, B., & Houghton, A. N. (1990). The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product. The Journal of experimental medicine, 171(4), 1375–1380. doi:10.1084/jem.171.4.1375
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2187848/
<br />https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2187848/


<ref name= "journe"/> Journe, F., Id Boufker, H., Van Kempen, L., Galibert, M. D., Wiedig, M., Salès, F., … Ghanem, G. (2011). TYRP1 mRNA expression in melanoma metastases correlates with clinical outcome. British journal of cancer, 105(11), 1726–1732. doi:10.1038/bjc.2011.451
<ref name= "journe"/> Journe, F., Id Boufker, H., Van Kempen, L., Galibert, M. D., Wiedig, M., Salès, F., … Ghanem, G. (2011). TYRP1 mRNA expression in melanoma metastases correlates with clinical outcome. British journal of cancer, 105(11), 1726–1732. doi:10.1038/bjc.2011.451
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242608/
<br />https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242608/
    
    
<ref name = "decker"/> Decker H., Tuczek F. The Recent Crystal Structure of Human Tyrosinase Related Protein 1 (HsTYRP1) Solves an Old Problem and Poses a New One. 2017 Nov 13. Epub 2017 Oct 9 PMID: 28990327 https://www.ncbi.nlm.nih.gov/pubmed/28990327 doi: 10.1002/anie.201708214
<ref name = "decker"/> Decker H., Tuczek F. The Recent Crystal Structure of Human Tyrosinase Related Protein 1 (HsTYRP1) Solves an Old Problem and Poses a New One. 2017 Nov 13. Epub 2017 Oct 9 PMID: 28990327 https://www.ncbi.nlm.nih.gov/pubmed/28990327 doi: 10.1002/anie.201708214
https://onlinelibrary.wiley.com/doi/abs/10.1002/anie.201708214
<br />https://onlinelibrary.wiley.com/doi/abs/10.1002/anie.201708214


<ref name = "grønskov"/> Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007). Oculocutaneous albinism. Orphanet journal of rare diseases, 2, 43. doi:10.1186/1750-1172-2-43
<ref name = "grønskov"/> Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007). Oculocutaneous albinism. Orphanet journal of rare diseases, 2, 43. doi:10.1186/1750-1172-2-43
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211462/
<br />https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211462/
 
<ref name = "cancer report"/> In Stewart, B. W., & In Wild, C. P. (2014). World cancer report 2014.
<br />http://publications.iarc.fr/Non-Series-Publications/World-Cancer-Reports/World-Cancer-Report-2014
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