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Cahill, J.

Publications and source records attributed to Cahill, J..

8 recordsLinked to original sources

The phage stress test: a proving ground for genome language models in biological prediction

Reliable biological prediction by AI is most likely to emerge first in the simplest systems with rich datasets and the fastest opportunities for testing and refinement. Phages with small genomes are an ideal testbed. Decades of experimental work have created an unusually information-rich literature benchmark that sits largely outside the sequence repositories typically used to train genome language models (GLMs). Recent work has shown that GLMs such as Evo2 can generate viable whole bacteriophage genomes, demonstrating that genome-scale biological design is possible. The next question is more mechanistic: can such models correctly predict the effects of simple, local sequence changes? Here, we evaluated Evo2 against experimental mutation data from two model phages: the single-stranded RNA phage MS2 and the single-stranded DNA phage {Phi}X174. We first addressed whether Evo2 sequence log-likelihood scores could distinguish viable from nonviable mutations, and then whether models trained on Evo2 embeddings were predictive of function. Across both phages, Evo2 captured expected sequence-level constraints: stop codons were generally penalized, synonymous substitutions had higher likelihood than nonsynonymous substitutions. Evo2 distinguished among synonymous codons in ways only weakly explained by host codon usage. However, for MS2, these capabilities did not translate into robust biological predictions. Specifically, Evo2 {Delta}SLL failed to distinguish functional from nonfunctional mutations in the lysis gene, an overlapping viral region that appears to be a particularly hard test case. In {Phi}X174, performance was stronger but still modest, and much of the apparent signal could be explained by simple covariates such as nonsense mutations, genomic position, and nucleotide distance from the reference. Together, these results introduce phages as a tractable proving ground for stress-testing GLMs against experimentally grounded genotype-to-phenotype tasks. More broadly, they provide a durable framework for identifying what data and model ingredients are required for biologically reliable prediction.

bioinformatics↗

The DNA Legacy of Thomas Jefferson

Allegations that Thomas Jefferson fathered the children of the enslaved Sally Hemings emerged in the context of U.S. presidential politics in the late 1700s and early 1800s and entailed strongly contested denials and affirmations by family members, biographers, and historians ever since. Previous analysis of Y chromosome markers in contemporary members of the Jefferson and Hemings patrilines was consistent with the paternity hypothesis but rejected by those who pointed out that, absent Jefferson DNA and its direct comparison to the DNA of possible descendants, other Jefferson males could have fathered Sally Hemings children. In this study, we developed an innovative technique to recover DNA from multiple rootless hair samples in a museum collection whose provenance, mitochondrial genomes, Y chromosome markers, and identity to each other indicate that these hairs and the DNA from them are from Thomas Jefferson. Using these DNA data, we find clear evidence of Thomas Jefferson ancestry in descendants of both his wife Martha Wayles Jefferson and Sally Hemings. We measured the amount of identical-by-descent DNA shared between Thomas Jefferson and his known and putative descendants. We find that the amount of shared Jefferson DNA is more likely under the model of direct Thomas Jefferson paternity than other proposed scenarios.

genomics↗

Regioselective biosynthesis of oligoamides as precursors for sequence-controlled co-polyamides

Polyamides are important natural and synthetic polymers, best exemplified by proteins and nylons respectively. Proteins demonstrate that novel polymers with emergent properties can be generated by combining diverse monomers in precisely defined sequences. However, commercial polyamides represent only a small fraction of the potential diversity in polyamide sequences, due to the synthetic challenges of sequence-controlled polymerization. Amide synthetases have been shown to synthesize a broad array of nylon-relevant diads, but the generation of novel sequenced copolyamides requires enzymes capable of acting with longer and more diverse substrates. In this study, we demonstrated that NRPS-independent siderophore (NIS) synthetases, represented by DesD, can ligate oligomeric substrates. A simultaneous enzyme cascade using DesD enabled the synthesis of an oligotriad directly from unprotected substrates. Moreover, the regioselectivity of DesD allowed the selective synthesis of a sequenced amide tetrad, the precursor to a novel sequenced-defined polyamide with properties superior to nylon 66. This study establishes a direct biocatalytic route for the facile synthesis of sequenced oligoamides from unprotected bifunctional substrates, opening new possibilities to synthesize sequenced copolyamides.

biochemistry↗

Conformational plasticity of human acid-sensing ion channel 1a

Acid-sensing ion channels (ASICs) are typically activated by acidic environments and contribute to nociception and synaptic plasticity. ASIC1a is the most abundant subunit in the central nervous system and forms homomeric channels permeable to Na+ and Ca2+, making it a compelling therapeutic target for acidotic pathologies including stroke and traumatic brain injury. However, a complete conformational library of human ASIC1a in its various functional states has yet to be described. Using cryo-EM, we obtained hASIC1a structures across a pH range between 8.5 and 5.7, as well as in the presence of a toxin agonist and a gating-modulating mutation. We identify six major conformations that establish linear transmembrane helices to be associated with an open state, delineate mechanistic differences between proton and toxin activation, and demonstrate that desensitization leads to unexpected conformational diversity in the transmembrane domain. Together, they provide a three-dimensional rationalization of decades of structure-function studies on ASIC.

biochemistry↗

Spatial and temporal control of lysis by the lambda holin

The infection cycle of phage {lambda} terminates in lysis mediated by three types of lysis proteins, each disrupting a layer in the bacterial envelope: the S105 holin, the R endolysin, and the Rz/Rz1 spanin complex targeting the inner membrane (IM), cell wall or peptidoglycan (PG), and the outer membrane (OM), respectively. Video microscopy has shown that in most infections lysis occurs as a sudden, explosive event at a cell pole, such that the initial product is a less refractile ghost that retains rod-shaped morphology. Here, we investigate the molecular basis of polar lysis using time lapse fluorescence microscopy. The results indicate that the holin determines the morphology of lysis by suddenly forming two-dimensional rafts at the poles about 100 seconds prior to lysis. Given the physiological and biochemical similarities between the lambda holin and other class I holins, dynamic redistribution and sudden concentration may be common features of holins, probably reflecting the fitness advantage of all-or-nothing lysis regulation.

microbiology↗

Consistent predictors of microbial community composition across scales in grasslands reveal low context-dependency

Environmental circumstances shaping soil microbial communities have been studied extensively, but due to disparate study designs it has been difficult to resolve whether a globally consistent set of predictors exists, or context-dependency prevails. Here, we used a network of 18 grassland sites (11 sampled across regional plant productivity gradients) to examine i) if the same abiotic or biotic factors predict both large- and regional-scale patterns in bacterial and fungal community composition, and ii) if microbial community composition differs consistently with regional plant productivity (low vs high) across different sites. We found that there is high congruence between predictors of microbial community composition across spatial scales; bacteria were predominantly associated with soil properties and fungi with plant community composition. Moreover, there was a microbial community signal that clearly distinguished high and low productivity soils that was shared across worldwide distributed grasslands suggesting that microbial assemblages vary predictably depending on grassland productivity.

ecology↗

Inhibition of CMP-sialic acid transport by endogenous 5-methyl CMP

Nucleotide-sugar transporters (NSTs) transport nucleotide-sugar conjugates into the Golgi lumen where they are then used in the synthesis of glycans. We previously reported crystal structures of a mammalian NST, the CMP-sialic acid transporter (CST) (Ahuja and Whorton 2019). These structures elucidated many aspects of substrate recognition, selectivity, and transport; however, one fundamental unaddressed question is how the transport activity of NSTs might be physiologically regulated as a means to produce the vast diversity of observed glycan structures. Here, we describe the discovery that an endogenous methylated form of cytidine monophosphate (m5CMP) binds and inhibits CST. The presence of m5CMP in cells results from the degradation of RNA that has had its cytosine bases post-transcriptionally methylated through epigenetic processes. Therefore, this work not only demonstrates that m5CMP represents a novel physiological regulator of CST, but it also establishes a link between epigenetic control of gene expression and regulation of glycosylation.View Full Text

biochemistry↗

Phage-encoded cationic antimicrobial peptide used for outer membrane disruption in lysis

Spanins are required for the last step in bacteriophage lysis: the disruption of the outer membrane. Bioinformatic analysis has shown that ~15% of phages lack a spanin gene, which suggests an alternate mechanism of outer membrane disruption. To address this, we selected virulent podophage {phi}KT as a spaninless exemplar and tested {phi}KT genes for outer membrane disruption during lysis. Hypothetical novel gene 28 causes outer membrane disruption when co-expressed with {phi}KT lysis genes and complements the lysis defect of a {lambda} spanin mutant. Gp28 is a 56 aa cationic peptide with predicted amphipathic helical structure and is associated with the particulate fraction after lysis. Urea and KCl washes did not release gp28 from the particulate, suggesting a strong hydrophobic interaction with the membrane. Super high-resolution microscopy supports a primarily outer membrane localization for the peptide. Additionally, holin function is not required for gp28-mediated lysis. Gp28 is similar in size, charge, predicted fold, and membrane association to the human cathelicidin antimicrobial peptide LL-37. In standard assays to measure bactericidal and inhibitory effects of antimicrobial peptides on bacterial cells, synthesized gp28 performed equivalently to LL-37. The studies presented here suggest that {phi}KT Gp28 disrupts bacterial outer membranes during lysis in a manner akin to antimicrobial peptides.\n\nSignificanceHere we provide evidence that {phi}KT produces an antimicrobial peptide for outer membrane disruption during lysis. The disruptin is a new paradigm for phage lysis, and has no similarities to other known lysis genes. Many mechanisms have been proposed for the function of antimicrobial peptides, however there is not a consensus on the molecular basis of membrane disruption. Additionally, there is no established genetic selection system to support such studies. Therefore, the {phi}KT disruptin may represent the first genetically tractable antimicrobial peptide.

microbiology↗