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. 2020 Nov 26;52(11):1787–1797. doi: 10.1038/s12276-020-00522-6

Fig. 3. Genetic backgrounds that affect gene expression and alternative splicing in an age-dependent manner.

Fig. 3

a. An example of expression quantitative trait loci (eQTLs) during brain aging. Genotypes of eQTL single-nucleotide polymorphisms (SNPs) are associated with the expression of target genes (eGenes) on the same chromosome (cis-eQTLs) or on different chromosomes (trans-eQTLs). Individuals with the GG allele in the SNP rs55675298 exhibit an age-dependent increase in the expression of the tumor protein-coding p53 family gene TP73, whereas individuals with the GT or TT allele do not. b. An example of a splicing quantitative trait locus (sQTL) in aged brains. Genotypes of sQTL SNPs are associated with alternative splicing of target genes. The number of G alleles in the SNP rs2439540 correlates positively with hnRNP splicing factors, including HNRNPA2B1, and correlates negatively with the intron usage level of TBC1 domain family member 7 (TBC1D7). Consistent with these observations, the mRNA level of HNRNPA2B1 correlates negatively with the intron usage level of TBC1D7.