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Article

Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan.

Scientific reports - 23 Feb 2023

Wang Pin-Yi, Yang Yuan, Shi Xiao-Qian, Chen Ying, Liu Shao-Dong, Wang Hong-Yan, Peng Tao, Shi Qiang, Zhang Wei, Sun Chang

Abstract excerpt

Our previous work identified one region upstream human UGT2B4 (UDP glucuronosyltransferase family 2 member B4) which is associated with breast cancer and under balancing selection. However, the distribution, functional variation and molecular mechanism underlying breast cancer and balancing selection remain unclear. In current study, the two haplotypes with deep divergence are described by analyzing 1000 genomes...

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PMID: 36823244
DOI: 10.1038/s41598-023-29682-x
PMCID: PMC9950360

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