The role of alternative splicing in adaptation and evolution

JP Verta, A Jacobs - Trends in Ecology & Evolution, 2022 - cell.com
Regulation of gene expression plays a central role in adaptive divergence and evolution.
Although the role of gene regulation in microevolutionary processes is gaining wide …

[HTML][HTML] Context-specific regulation and function of mRNA alternative polyadenylation

S Mitschka, C Mayr - Nature Reviews Molecular Cell Biology, 2022 - nature.com
Alternative cleavage and polyadenylation (APA) is a widespread mechanism to generate
mRNA isoforms with alternative 3′ untranslated regions (UTRs). The expression of …

An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability

L Li, KL Huang, Y Gao, Y Cui, G Wang, ND Elrod, Y Li… - Nature …, 2021 - nature.com
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …

Transcriptome variation in human tissues revealed by long-read sequencing

DA Glinos, G Garborcauskas, P Hoffman, N Ehsan… - Nature, 2022 - nature.com
Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

[HTML][HTML] Deciphering the impact of genetic variation on human polyadenylation using APARENT2

J Linder, SE Koplik, A Kundaje, G Seelig - Genome biology, 2022 - Springer
Background 3′-end processing by cleavage and polyadenylation is an important and finely
tuned regulatory process during mRNA maturation. Numerous genetic variants are known to …

[HTML][HTML] Benchmarking sequencing methods and tools that facilitate the study of alternative polyadenylation

A Shah, BE Mittleman, Y Gilad, YI Li - Genome biology, 2021 - Springer
Background Alternative cleavage and polyadenylation (APA), an RNA processing event,
occurs in over 70% of human protein-coding genes. APA results in mRNA transcripts with …

[HTML][HTML] Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders

Y Cui, FJ Arnold, F Peng, D Wang, JS Li… - Nature …, 2023 - nature.com
Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …

[HTML][HTML] Sites of transcription initiation drive mRNA isoform selection

C Alfonso-Gonzalez, I Legnini, S Holec, L Arrigoni… - Cell, 2023 - Elsevier
The generation of distinct messenger RNA isoforms through alternative RNA processing
modulates the expression and function of genes, often in a cell-type-specific manner. Here …

[HTML][HTML] The impact of cell type and context-dependent regulatory variants on human immune traits

Z Mu, W Wei, B Fair, J Miao, P Zhu, YI Li - Genome biology, 2021 - Springer
Background The vast majority of trait-associated variants identified using genome-wide
association studies (GWAS) are noncoding, and therefore assumed to impact gene …

[PDF][PDF] Skipper analysis of eCLIP datasets enables sensitive detection of constrained translation factor binding sites

EA Boyle, HL Her, JR Mueller, JT Naritomi, GG Nguyen… - Cell Genomics, 2023 - cell.com
Technology for crosslinking and immunoprecipitation (CLIP) followed by sequencing (CLIP-
seq) has identified the transcriptomic targets of hundreds of RNA-binding proteins in cells …