美国加州大学旧金山分校A. Hunter Shain研究小组绘制出人类皮肤单个黑素细胞的基因组图谱。2020年10月7日，国际知名学术期刊《自然》在线发表了这一成果。
Title: The genomic landscapes of individual melanocytes from human skin
Author: Jessica Tang, Eleanor Fewings, Darwin Chang, Hanlin Zeng, Shanshan Liu, Aparna Jorapur, Rachel L. Belote, Andrew S. McNeal, Tuyet M. Tan, Iwei Yeh, Sarah T. Arron, Robert L. Judson-Torres, Boris C. Bastian, A. Hunter Shain
Abstract: Every cell in the human body has a unique set of somatic mutations, but it remains difficult to comprehensively genotype an individual cell1. Here we describe ways to overcome this obstacle in the context of normal human skin, thus offering a glimpse into the genomic landscapes of individual melanocytes from human skin. As expected, sun-shielded melanocytes had fewer mutations than sun-exposed melanocytes. However, melanocytes from chronically sun-exposed skin (for example, the face) had a lower mutation burden than melanocytes from intermittently sun-exposed skin (for example, the back). Melanocytes located adjacent to a skin cancer had higher mutation burdens than melanocytes from donors without skin cancer, implying that the mutation burden of normal skin can be used to measure cumulative sun damage and risk of skin cancer. Moreover, melanocytes from healthy skin commonly contained pathogenic mutations, although these mutations tended to be weakly oncogenic, probably explaining why they did not give rise to discernible lesions. Phylogenetic analyses identified groups of related melanocytes, suggesting that melanocytes spread throughout skin as fields of clonally related cells that are invisible to the naked eye. Overall, our results uncover the genomic landscapes of individual melanocytes, providing key insights into the causes and origins of melanoma. A combination of clonal expansion and DNA amplification is used to sequence genetic material from individual melanocytes, shedding light on the mutational landscape of these cells and the development of melanomas.