espcrbulletin - European Society for Pigment Cell Research

- Corry GN, Underhill DA.
Pax3 target gene recognition occurs through distinct modes that are differentially affected by
disease-associated mutations. Pigment Cell Res 18(6):427-438, 2005.
- Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER.
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet
68(2):182-184, 2005.
- Garcia-Borron JC, Sanchez-Laorden BL, Jimenez-Cervantes C.
Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res 18(6):393-410,
2005.
- Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. Clin
Genet 68(1):23-30, 2005.
- Gupta PB, Kuperwasser C, Brunet JP, Ramaswamy S, Kuo WL, Gray JW, Naber SP, Weinberg RA.
The melanocyte differentiation program predisposes to metastasis after neoplastic
transformation. Nat Genet 37(10):1047-1054, 2005.
Abstract: The aggressive clinical behavior of melanoma suggests that the developmental origins of
melanocytes in the neural crest might be relevant to their metastatic propensity. Here we show that
primary human melanocytes, transformed using a specific set of introduced genes, form melanomas
that frequently metastasize to multiple secondary sites, whereas human fibroblasts and epithelial
cells transformed using an identical set of genes generate primary tumors that rarely do so. Notably,
these melanomas have a metastasis spectrum similar to that observed in humans with melanoma.
These observations indicate that part of the metastatic proclivity of melanoma is attributable to
lineage-specific factors expressed in melanocytes and not in other cell types analyzed. Analysis of
microarray data from human nevi shows that the expression pattern of Slug, a master regulator of
neural crest cell specification and migration, correlates with those of other genes that are important
for neural crest cell migrations during development. Moreover, Slug is required for the metastasis of
the transformed melanoma cells. These findings indicate that melanocyte-specific factors present
before neoplastic transformation can have a pivotal role in governing melanoma progression.
- Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M.
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC Cell Biol 6,
33, 2005.
- Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki
H, Kakuta Y, Spritz RA, Tomita Y.
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism
patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 125(4):715-720,
2005.
- Iwakawa J, Matsuyama W, Watanabe M, Yamamoto M, Oonakahara K, Machida K, Higashimoto I,
Niiyama T, Osame M, Arimura K.
Hermansky-Pudlak syndrome with a novel mutation. Intern Med 44(7):733-738, 2005.
- Jannot AS, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, Picard C, Ollivaud L,
Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F,
Grandchamp B, Soufir N, Melan C.
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic
susceptibility to melanoma. Eur J Hum Genet 13(8):913-920, 2005.
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