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Cho, S. Y.

Publications and source records attributed to Cho, S. Y..

3 recordsLinked to original sources

Biophysical characterization of the ETV6 PNT domain polymerization interfaces

ETV6 is an ETS family transcriptional repressor that self-associates by its PNT domain to facilitate cooperative DNA binding. Chromosomal translocations frequently generate constitutively active oncoproteins with the ETV6 PNT domain fused to the kinase domain of one of many protein tyrosine kinases. Although an attractive target for therapeutic intervention, the propensity of the ETV6 PNT domain to polymerize via the tight head-to-tail association of two relatively flat interfaces makes it challenging to identify suitable small molecule inhibitors of this protein-protein interaction. Herein we provide a comprehensive biophysical characterization of the ETV6 PNT domain interaction interfaces to aid future drug discovery efforts and help define the mechanisms by which its self-association mediates transcriptional repression. Using NMR spectroscopy, X-ray crystallography, and molecular dynamics simulations, we demonstrate that ETV6 PNT domain variants with monomerizing mutations adopt very stable helical bundle folds that do not change in conformation upon self-association. Amide hydrogen exchange and surface plasmon resonance-monitored alanine scanning mutagenesis studies identified hot spot regions within the self-association interfaces. These regions include both central hydrophobic residues and flanking salt-bridging residues. Collectively, these studies indicate that small molecules targeted to these hydrophobic or charged regions within the relatively rigid interfaces could potentially serve as orthosteric inhibitors of ETV6 PNT domain polymerization.

biochemistry

ASpediaFI: Functional interaction analysis of alternative splicing events

Alternative splicing (AS) regulates biological process governing phenotype or disease. However, it is challenging to systemically analyze global regulation of AS events, their gene interactions, and functions. Here, we introduce a novel application, ASpediaFI for identifying AS events and co-regulated gene interactions implicated in pathways. Our method establishes an interaction network including AS events, performs random walk with restart, and finally identifies a functional subnetwork containing the AS event. We validated the capability of ASpediaFI to interpret biological relevance based on three case studies. Using simulation data, we achieved higher accuracy than with other methods and detected pathway-associated AS events.

bioinformatics

A role for KIF9 in male fertility

A mouse was generated containing a floxed exon 3 of the gene for the kinesin family member KIF9. By in situ hybridization, expression of KIF9 mRNA was highest in the testis and was also strong in epithelia containing multi-ciliated cells such as the ependyma, bronchioles and oviduct. Deletion of the exon led to loss of KIF9 expression at the mRNA and protein level with no effect on viability. However, homozygous KIF9 knockout males were sterile. Although KIF9 knockout sperm were motile, they were unable to fertilize oocytes in an in vitro fertilization assay. Closer examination of sperm motility indicated a subtle difference in waveform. Our results suggest that KIF9 plays a role male fertility, possibly through regulation of flagellar waveforms in ciliated cells.

developmental biology