bioRxiv Science⌕ Search

Biology subjects

Conrads, K.

Publications and source records attributed to Conrads, K..

4 recordsLinked to original sources

TFClassPredict: A Novel Deep Learning Framework for Transcription Factor Binding Site Analysis Using Evolutionarily Conserved DNA-Binding Domain Annotations

Defining the cis-regulatory code remains one of the central challenges of modern genomics, requiring the reliable association of transcription factor binding sites (TFBSs) with their cognate transcription factors (TFs) from DNA sequence information. While deep learning methods outperform conventional position weight matrix (PWM)-based approaches, both typically formulate TFBS prediction as a bound-versus-unbound decision rather than resolving the competitive binding potential among TFs at a given genomic location. This is further complicated by the widespread sharing of DNA-binding domains (DBDs) among TFs, which produces overlapping binding preferences, rendering TFBS assignment at the individual TF level inherently ambiguous. Consequently, we present TFClassPredict, a DNABERT-based framework that reframes TFBS prediction as a multi-class classification problem across 23 DBD-classes, discriminating each against all remaining DBD-classes, directly enabling the resolution of binding events between DBD-classes. Trained on high-confidence directly bound TFBSs and exploiting DBD-DNA co-evolution, TFClassPredict naturally resolves the ambiguity arising from shared DBD architectures. We demonstrate that TFClassPredict achieves robust DBD-class level classification, outperforming PWM-based approaches and benchmarked deep learning architectures with predictions mapping to biologically defined DBD-classes. Beyond classification, TFClassPredict improves PWM-based pipelines, three-dimensional genome interaction prediction, and allows genome-wide DBD-class annotation, while recapitulating known lineage-specifying TF programs from immune cell ATAC-seq data.

bioinformatics↗

A single-cell strategy for the identification of intronic variants related to mis-splicing in pancreatic cancer

Most clinical diagnostic and genomic research setups focus almost exclusively on coding regions and essential splice sites, thereby overlooking other non-coding variants. As a result, intronic variants that can promote mis-splicing events across a range of diseases, including cancer, are yet to be systematically investigated. Such investigations would require both genomic and transcriptomic data, but there currently exist very few datasets that satisfy these requirements. We address this by developing a single-nucleus full-length RNA-sequencing approach that allows for the detection of potentially pathogenic intronic variants. We exemplify the potency of our approach by applying pancreatic cancer tumor and tumor-derived specimens and linking intronic variants to splicing dysregulation. We specifically find that prominent intron retention and pseudo-exon activation events are shared by the tumors and affect genes encoding key transcriptional regulators. Our work paves the way for the assessment and exploitation of intronic mutations as powerful prognostic markers and potential therapeutic targets in cancer. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=173 SRC="FIGDIR/small/539836v2_ufig1.gif" ALT="Figure 1"> View larger version (32K): org.highwire.dtl.DTLVardef@18ddba7org.highwire.dtl.DTLVardef@4fc53aorg.highwire.dtl.DTLVardef@11d8d0dorg.highwire.dtl.DTLVardef@1178b86_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

Peptide Ancestry Informative Markers in Uterine Neoplasms from Women of European, African and Asian Ancestry

Characterization of ancestry-linked peptide variants in disease-relevant patient tissues represents a foundational step to connect patient ancestry with molecular disease pathogenesis. Nonsynonymous single nucleotide polymorphisms (SNPs) encoding missense substitutions within tryptic peptides exhibiting high allele frequencies in European, African, and East Asian populations, termed peptide ancestry informative markers (pAIMs), were prioritized from 1000 genomes. In silico analysis shows that as few as 20 pAIMs can determine ancestry proportions similarly to >260K SNPs (R2=0.9905). Multiplexed proteomic analysis of >100 human endometrial cancer cell lines and uterine leiomyoma tissues resulted in the quantitation of 62 pAIMs that correlate with self-described race and genotype-confirmed patient ancestry. Candidates include a D451E substitution in GC vitamin D-binding protein previously associated with altered vitamin D levels in African and European populations. These efforts describe a generalized set of markers for proteoancestry assessment that will further support studies investigating the impact of ancestry on the human proteome and how this relates to the pathogenesis of uterine neoplasms.

cancer biology↗

Fog signaling has diverse roles in epithelial morphogenesis in insects

The Drosophila Fog pathway represents one of the best-understood signaling cascades controlling epithelial morphogenesis. During gastrulation, Fog induces apical cell constrictions that drive the invagination of mesoderm and posterior gut primordia. The cellular mechanisms underlying primordia internalization vary greatly among insects and recent work has suggested that Fog signaling is specific to the fast mode of gastrulation found in some flies. On the contrary, here we show in the beetle Tribolium, whose development is broadly representative for insects, that Fog has multiple morphogenetic functions. It modulates mesoderm internalization and controls a massive posterior infolding involved in gut and extraembryonic development. In addition, Fog signaling affects blastoderm cellularization, primordial germ cell positioning and cuboidal-to-squamous cell shape transitions in the extraembryonic serosa. Comparative analyses with two other distantly related insect species reveals that Fogs role during cellularisation is widely conserved and therefore might represent the ancestral function of the pathway.

developmental biology↗