Parallel genetic and cellular analysis of melanogensis: A new paradigm to study variation in pigmentation

黑色素生成的并行遗传和细胞分析：研究色素沉着变化的新范式

• 批准号: DP0451738
• 负责人: A/Prof Richard Sturm
• 金额: $ 17.76万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Discovery Projects
• 财政年份: 2004
• 资助国家: 澳大利亚
• 起止时间: 2004-01-01 至 2006-12-31
• 项目状态: 已结题
• 来源: https://dataportal.arc.gov.au/RGS/Web/Grants/DP0451738
• 关键词: Parallel; genetic; cellular; analysis; melanogensis

This is the first attempt to characterise the differences in human pigmentation using a combined genetic and cellular analysis of melanogenesis. We have the ability to culture the pigmenting cells of the human epidermis and hair follicles called melanocytes from individuals of defined genotype. This will allow us to correlate mutations in melanosomal proteins with functional defects within the cells in culture using live cell imaging, electron microscopy and biochemical analysis. This will provide a molecular basis to explain the pigmentary characteristics of individuals allowing prediction and diagnosis of their photosensitivity with important implications for skin cancer risk.

这是第一次尝试使用黑素生成的遗传和细胞分析来确定人类色素沉着的差异。 我们有能力培养人类表皮和毛囊的色素细胞，称为黑素细胞，来自特定基因型的个体。 这将使我们能够使用活细胞成像，电子显微镜和生化分析将黑素体蛋白的突变与培养中细胞内的功能缺陷相关联。 这将提供一个分子基础来解释个人的色素特征，允许预测和诊断他们的光敏性，对皮肤癌的风险具有重要意义。