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Biology subjects

King, H. E.

Publications and source records attributed to King, H. E..

3 recordsLinked to original sources

High-content imaging reveals the ability of microexons to shape protein localisation

Alternative splicing provides a pervasive means to expand proteome complexity, yet how it reorganises protein interactions and constrains where proteins act within cell remains unclear. By constructing an interface-resolved interaction network composed of 17,660 experimentally defined contact sites, we reveal that tissue-specific alternative splicing remodels protein connectivity by reshaping modular protein architecture. Longer exons reshape local interaction patterns whereas microexons fine-tune key interfaces linking distinct cellular processes. Integration of subcellular localisation data further indicates that such rewiring can redistribute proteins within cells. To test this, we developed a high-content imaging approach to systematically evaluate the influence of individual exons on protein localisation and screened a targeted library of protein isoforms differing in individual exons. 38% of the tested isoform pairs altered localisation, with microexons, although typically shorter than five amino acids, accounting for a substantial proportion of these effects. Bioinformatic and structural analyses identified that microexons can extend secondary structural regions and reposition charged residues, suggesting a potential to modulate local electrostatic environments. Consistent with this, biochemical analysis of a four-amino acid microexon in sorting nexin 2 - identified through our screen - confirmed that residue insertion, rather than side chain chemistry, was driving differences in protein localisation through repositioning of a flanking, charged residue. Together, these findings describe a principle by which alternative splicing fine-tunes interface architecture to coordinate protein assembly, localisation, and proteome organisation.

molecular biology↗

Isoform-specific single-cell perturb-seq reveals distinct functions of alternative promoters in drug response

CRISPR interference (CRISPRi) screens have emerged as powerful tools for dissecting gene function, yet their application to genes with multiple promoters, which comprise over 60% of human genes, remains poorly understood. Here, we demonstrate that CRISPR-dCas9-based screens exhibit widespread promoter specificity, with untargeted promoters often showing compensatory upregulation to maintain gene expression. Leveraging this selective targeting of individual promoters within the same gene, we developed isoform-specific single-cell Perturb-Seq to systematically analyse alternative promoter function. Our analysis revealed that alternative promoters in 48.3% of targeted genes drive distinct transcriptional programs. This suggests that promoter selection represents a fundamental mechanism for generating cellular diversity rather than mere transcriptional redundancy. In breast cancer models, this promoter-specific targeting revealed differential effects on drug sensitivity, where distinct estrogen receptor (ESR1) promoters showed opposing influences on tamoxifen response and patient survival. These findings demonstrate the necessity of promoter-level analysis in functional genomics and suggest new strategies for therapeutic intervention through promoter-specific targeting.

genomics↗

The conserved landscape of RNA modifications and transcript diversity across mammalian evolution

Gene expression programs underpin the development of shared phenotypes, yet the importance of transcript complexity in shaping mammalian evolution remains unclear. Here we present a comprehensive long-read direct RNA sequencing atlas of full-length transcripts and their m6A modifications across six tissues (hippocampus, frontal cortex, cerebellum, testes, skeletal muscle, and liver) in five mammals (human, mouse, rat, dog, and cow) and a non-mammalian out-group (chicken). Our analysis reveals that 29% of genes have multiple mammalian-conserved alternative transcripts, with 31% of these genes showing tissue-specific switching of the major transcript isoforms. We uncover extensive conservation of coordinated splicing events, primarily driven by tissue-specific mutually associated exon splicing, particularly in neural tissues and cytoskeletal genes. At the epitranscriptome level, we find that 14.2% of m6A RNA modifications are conserved across mammals, with 39% of analysed genes containing a conserved m6A RNA modification. Our work provides unprecedented insight into the evolution of transcript complexity and the epitranscriptome, highlighting their potential roles in shaping mammalian phenotypic diversity and providing a valuable resource for understanding post-transcriptional regulation across mammalian evolutionary time.

genomics↗