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"Nature" sub-issues sequenced somatic cells, embryos, and sperm to find important genes

 Last Update: 2021-11-05
 Source: Internet
 Author: User

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The human body is made up of countless cells, and each cell needs to replicate its genome when it divides

Studies have reported that in some somatic cells of cancer patients, there are acquired heterozygous missense mutations in the POLE or POLD1 exonuclease domain

Recently, "Nature-Genetics" published online a collaborative study titled "Increased somatic mutation burdens in normal human cells due to defective DNA polymerases" by Michael R.

The researchers recruited 14 patients aged between 17 and 72 who had suffered from colorectal adenoma or colorectal cancer as the study subjects.

At the same time, the researchers also found that colon cancer and endometrial cancer are also common tumors associated with this gene defect

So, can these mutations all have a phenotype? Of course not

All in all, this study shows that multiple normal cell types of carriers of germline mutations in the POLE/POLD1 exonuclease domain exhibit mutation characteristics, which increase the rate of somatic SBS and ID mutations

Reference materials:

[1]https://

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