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Basar, M. A.

Publications and source records attributed to Basar, M. A..

3 recordsLinked to original sources

Quantifying the Provenance-to-Function Gap in Antidiabetic Peptide Prediction: Homology-Aware Evaluation and the ADP-Hybrid Baseline

Antidiabetic peptides (ADPs) are short bioactive sequences of therapeutic interest, and sequence-based classifiers prioritise experimental candidates. A classifier is useful only if its accuracy transfers to unseen sequences, which depends on how the benchmark was as sembled and partitioned. We term the distance between what such a classifier is scored on and the function it is meant to predict the provenance-to-function gap, and we quantify it. We re-evaluate the two-layer ADP benchmark of Basith et al. under a protocol that groups homologous peptides rather than splitting them at random. Of the 877 ADPs, 218 attribute to a precursor protein by exact substring containment; within that subset the second-layer label coincides exactly with precursor identity, all 140 human-insulin fragments carrying the type-1 label and all 76 bovine milk-protein fragments the type-2 label, without exception. Accuracy tracks identity to the training set, rising from a Matthews correlation coefficient (MCC) of 0.39-0.43 below 50% identity to 0.92-0.96 between 70% and 90%, and peptide length alone reaches MCC 0.619 on held-out data. Auditing sixteen further peptide bench marks shows the coupling is not confined to this resource: fragment families share a label more often than chance in eleven of fourteen testable datasets, and not in three, so the prop erty is common rather than universal. Rebuilding the published architecture on identical folds shows its advantage over a single classifier is a function of the split: present under random partitioning, absent once homologues are separated. ADP-Hybrid, one tree-ensemble classifier per layer, reaches MCC 0.843 on layer 1 against a published 0.841 at 21-38 times the inference throughput, and 0.801 against 0.858 on layer 2. We release the protocol and the controls that expose these properties.

bioinformatics↗

The SOD-2 protein is the single active SOD enzyme in C. elegans

The nematode C. elegans has a contingent of five sod genes, one of the largest among aerobic organism. Earlier studies revealed each of the five sod genes is capable of making perfectly active SOD proteins in heterologous expressions systems therefore none appears to be a pseudogene. Yet deletion of the entire contingent of sod genes fails to impose any effect on the survival of C. elegans except these animals appear more sensitive to extraneously applied oxidative stress condition. We asked how many of the five sod genes are actually active in C. elegans through an in-gel SOD activity analysis. Here we provide evidence that out of the five genes only the mitochondrial SOD gene is active in C. elegans, albeit at a much lesser amount compared to D. melanogaster and E. coli. Mutant analysis further confirmed that among the mitochondrial forms, SOD-2 is the only naturally active SOD in C. elegans.

genetics↗

Regulation of human development by ubiquitin chain editing of chromatin remodelers

Embryonic development occurs through commitment of pluripotent stem cells to differentiation programs that require highly coordinated changes in gene expression. Chromatin remodeling of gene regulatory elements is a critical component of how such changes are achieved. While many factors controlling chromatin dynamics are known, mechanisms of how different chromatin regulators are orchestrated during development are not well understood. Here, we describe LINKED (LINKage-specific-deubiquitylation-deficiency-induced Embryonic Defects) syndrome, a novel multiple congenital anomaly disorder caused by hypomorphic hemizygous missense variants in the deubiquitylase OTUD5/DUBA. Studying LINKED mutations in vitro, in mouse, and in models of neuroectodermal differentiation of human pluripotent stem cells, we uncover a novel regulatory circuit that coordinates chromatin remodeling pathways during early differentiation. We show that the K48-linkage-specific deubiquitylation activity of OTUD5 is essential for murine and human development and, if reduced, leads to aberrant cell-fate specification. OTUD5 controls differentiation through preventing the degradation of multiple chromatin regulators including ARID1A/B and HDAC2, mutation of which underlie developmental syndromes that exhibit phenotypic overlap with LINKED patients. Accordingly, loss of OTUD5 during early differentiation leads to less accessible chromatin at neural and neural crest enhancers and thus aberrant rewiring of gene expression networks. Our work identifies a novel mechanistic link between phenotypically related developmental disorders and an essential function for linkagespecific ubiquitin editing of substrate groups (i.e. chromatin remodeling complexes) during early cellfate decisions - a regulatory concept, we predict to be a general feature of embryonic development.

genetics↗