小柯机器人

科学家绘制出人类皮肤单个黑素细胞的基因组图谱
2020-10-11 21:47

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。

据研究人员介绍,人体中的每个细胞都有一组独特的体细胞突变,但是要全面地对单个细胞进行基因分型仍然很困难。
 
研究人员描述了在正常的人类皮肤中克服这一障碍的方法,从而可以了解人类皮肤中单个黑素细胞的基因组情况。与预期一致,受阳光遮蔽的黑素细胞的突变少于受阳光照射的黑素细胞。但是,长期暴露在阳光下的皮肤(例如面部)的黑素细胞的突变负担要比间歇暴露在??阳光下的皮肤(例如背部)的黑素细胞低。与皮肤癌相邻的黑素细胞比没有皮肤癌的捐献者的黑素细胞具有更高的突变负担,这意味着正常皮肤的突变负担可用于测量累积的阳光伤害和皮肤癌的风险。
 
此外,来自健康皮肤的黑素细胞通常含有致病性突变,尽管这些突变倾向于致癌性较弱,这可能解释了为什么它们没有引起可识别的病变。系统发育分析确定了相关的黑素细胞群,并表明黑素细胞作为肉眼不可见的克隆相关细胞的区域分布在整个皮肤中。
 
总体而言,这些结果揭示了单个黑素细胞的基因组情况,从而提供了有关黑素瘤原因和起源的关键见解。
 
附:英文原文

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

Issue&Volume: 2020-10-07

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.

DOI: 10.1038/s41586-020-2785-8

Source: https://www.nature.com/articles/s41586-020-2785-8

Nature:《自然》,创刊于1869年。隶属于施普林格·自然出版集团,最新IF:69.504
官方网址:http://www.nature.com/
投稿链接:http://www.nature.com/authors/submit_manuscript.html


本期文章:《自然》:Online/在线发表

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