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Skin melanoma is a skin cancer caused by melanin cells (cells that produce pigment in the skin), and lighting is the main mutagenogen in the formation of melanoma.
sequencing of melanoma tumor tissue has found that somatic cell mutations are closely related to it, so early diagnosis is of great significance.
it is not clear whether these mutations occur during tumor formation and whether they accumulate more quickly during tumor transformation.
because melanin cells are sparsely distributed in the skin, overall cell sequencing is not suitable for detecting melanin cell mutations.
studies on genotypes of individual cells are also rare, and there is no research on melanin cell types.
7, 2020, at the Helen Diller Family Comprehensive Cancer Center at the University of California, San Francisco. In a research paper published online in Nature, hunter Shain researchers, entitled "The genomic landscapes of theindividual melanocytes from human skin", shed light on the genomic characteristics of individual melanin cells in humans and provide a new theoretical basis for the onset of melanoma.
took normal skin samples from 19 sites in six healthy people.
skin biopsy was taken from the tumor week tissue of a deceased person with no history of skin cancer or a skin cancer patient.
, the researchers cultured the skin cell tissue for about two weeks and performed single-cell classification and cloning.
a series of experiments and bioinsyntics, the researchers overcame the barriers associated with melanin cell genotypes and eventually obtained 133 melanin cells.
of skin cell genotype analysis was consistent with expectations, and the results showed that melanin cells exposed to the sun had more mutations.
Usually, the skin on the back and limbs is exposed only intermittently to the sun, and the amount of sunlight accumulated is lower than that of the skin on the face, neck and scalp, but there are more mutations in the back and limb cells than in the melanin cells on the face.
the genomes of melanin cells in human skin, researchers detected 29 pathogenic mutations in 24 different cells.
, there are many mutations that activate the fissure activated protein kinase (MAPK) path.
includes mutations in the missing functions of MAPK path negative regulatory factors such as NF1, CBL, and RASA2, as well as mutations that are enhanced or altered by BRAF, NRAS, and MAP2K1 functions.
, the BRAFV600E mutation, the most common mutation of melanoma, was not detected in the study.
Melanoma's different evolutionary processes in general, the study overcomes the barriers associated with melanin cell genotyping, reveals the origin of melanoma by studying the genomes of individual human melanin cells, and is expected to predict or measure the risk of UV damage and melanoma by detecting the number and type of melanoma mutations.
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