Swiss Institute for Experimental Cancer Research (ISREC), School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
Pigment Cell Melanoma Res. 2012 Jan;25(1):37-46. doi: 10.1111/j.1755-148X.2011.00910.x. Epub 2011 Oct 7.
Melanoma antigen recognized by T cells 1 (MART-1) is a melanoma-specific antigen, which has been thoroughly studied in the context of immunotherapy against malignant melanoma and which is found only in the pigment cell lineage. However, its exact function and involvement in pigmentation is not clearly understood. Melanoma antigen recognized by T cells 1 has been shown to interact with the melanosomal proteins Pmel17 and OA1. To understand the function of MART-1 in pigmentation, we developed a new knockout mouse model. Mice deficient in MART-1 are viable, but loss of MART-1 leads to a coat color phenotype, with a reduction in total melanin content of the skin and hair. Lack of MART-1 did not affect localization of melanocyte-specific proteins nor maturation of Pmel17. Melanosomes of hair follicle melanocytes in MART-1 knockout mice displayed morphological abnormalities, which were exclusive to stage III and IV melanosomes. In conclusion, our results suggest that MART-1 is a pigmentation gene that is required for melanosome biogenesis and/or maintenance.
黑色素瘤相关抗原 1（MART-1）是一种黑色素瘤特异性抗原，已在针对恶性黑色素瘤的免疫治疗背景下进行了深入研究，并且仅存在于色素细胞谱系中。然而，其确切功能及其在色素沉着中的作用尚不清楚。已经表明黑色素瘤相关抗原 1 可与黑素小体蛋白 Pmel17 和 OA1 相互作用。为了了解 MART-1 在色素沉着中的功能，我们开发了一种新的敲除小鼠模型。缺乏 MART-1 的小鼠是有活力的，但 MART-1 的缺失导致毛色表型，皮肤和头发中的总黑色素含量减少。缺乏 MART-1 并不影响黑素细胞特异性蛋白的定位，也不影响 Pmel17 的成熟。MART-1 敲除小鼠的毛囊黑素细胞中的黑素小体显示出形态异常，这些异常仅存在于 III 期和 IV 期黑素小体中。总之，我们的结果表明，MART-1 是一个色素沉着基因，是黑素小体发生和/或维持所必需的。
