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 …

QTQTN motif upstream of the furin-cleavage site plays a key role in SARS-CoV-2 infection and pathogenesis

MN Vu, KG Lokugamage, JA Plante… - Proceedings of the …, 2022 - National Acad Sciences
The furin cleavage site (FCS), an unusual feature in the SARS-CoV-2 spike protein, has
been spotlighted as a factor key to facilitating infection and pathogenesis by increasing …

Alternative polyadenylation alters protein dosage by switching between intronic and 3′ UTR sites

N de Prisco, C Ford, ND Elrod, W Lee, LC Tang… - Science …, 2023 - science.org
Alternative polyadenylation (APA) creates distinct transcripts from the same gene by
cleaving the pre-mRNA at poly (A) sites that can lie within the 3′ untranslated region (3 …

Generation and characterization of human Fetal membrane and Decidual cell lines for reproductive biology experiments

E Radnaa, R Urrabaz-Garza, ND Elrod… - Biology of …, 2022 - academic.oup.com
Human fetal membrane and maternal decidua parietalis form one of the major feto-maternal
interfaces during pregnancy. Studies on this feto-maternal interface is limited as several …

Tau modulates mRNA transcription, alternative polyadenylation profiles of hnRNPs, chromatin remodeling and spliceosome complexes

M Montalbano, E Jaworski, S Garcia… - Frontiers in Molecular …, 2021 - frontiersin.org
Tau protein is a known contributor in several neurodegenerative diseases, including
Alzheimer's disease (AD) and frontotemporal dementia (FTD). It is well-established that tau …

Human Pumilio proteins directly bind the CCR4-NOT deadenylase complex to regulate the transcriptome

III Enwerem, ND Elrod, CT Chang, A Lin, P Ji, JA Bohn… - Rna, 2021 - rnajournal.cshlp.org
Pumilio paralogs, PUM1 and PUM2, are sequence-specific RNA-binding proteins that are
essential for vertebrate development and neurological functions. PUM1&2 negatively …

Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation

CE Alcott, HK Yalamanchili, P Ji, ME van der Heijden… - Elife, 2020 - elifesciences.org
We previously showed that NUDT21-spanning copy-number variations (CNVs) are
associated with intellectual disability (Gennarino et al., 2015). However, the patients' CNVs …

Sex-chromosome mechanisms in cardiac development and disease

FL Conlon, AP Arnold - Nature cardiovascular research, 2023 - nature.com
Many human diseases, including cardiovascular disease, show differences between men
and women in pathology and treatment outcomes. In the case of cardiac disease, sex …

SAM homeostasis is regulated by CFIm-mediated splicing of MAT2A

AM Scarborough, JN Flaherty, OV Hunter, K Liu… - Elife, 2021 - elifesciences.org
S-adenosylmethionine (SAM) is the methyl donor for nearly all cellular methylation events.
Cells regulate intracellular SAM levels through intron detention of MAT2A, the only SAM …

PolyA-miner: Accurate assessment of differential alternative poly-adenylation from 3′ Seq data using vector projections and non-negative matrix factorization

HK Yalamanchili, CE Alcott, P Ji… - Nucleic acids …, 2020 - academic.oup.com
Almost 70% of human genes undergo alternative polyadenylation (APA) and generate
mRNA transcripts with varying lengths, typically of the 3′ untranslated regions (UTR). APA …