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Biology subjects

Sheehan, P.

Publications and source records attributed to Sheehan, P..

2 recordsLinked to original sources

SPECTRA: predicting cellular perturbation responses with Graph Learning over Gene Regulatory Networks

Predicting the transcriptomic consequences of cellular perturbations is challenging due to the sparsity of single-cell transcriptional responses, heterogeneous perturbation efficiency, and the difficulty of identifying the small subset of genes that are truly differentially expressed after perturbation. Current approaches typically encode interventions as latent shifts from unperturbed to perturbed cellular state, making the models hard to interpret. Here we introduce SPECTRA (SPEctral CRISPR Transcriptome Regulatory Autoencoder) a graph-based model that treats CRISPR perturbations as interpretable, localized signals injected into a Gene Regulatory Network and propagated through directed graph neural networks. SPECTRA combines a variational control-cell encoder and a directed heterophilic graph decoder, integrating single-cell expression, pretrained transcriptomic context, and prior regulatory topology into a single node-level representation. We evaluate SPECTRA on a large-scale single-cell CRISPRi benchmark, measuring differentially expressed gene recovery through precision, F1 score, and AUPRC-based DEG classification. Since perturbations in SPECTRA are interpretable, we tested the predictions of the model against known biology, in cases where the effects of a gene knock out have been repeatedly demonstrated with orthogonal experiments. Our results show that graph-based signal propagation is a biologically grounded alternative to latent-shift perturbation modeling and can improve the recovery of sparse perturbation-induced transcriptional effects.

systems biology↗

Haploinsufficiency of Parkinsonism Gene SYNJ1 Contributes to Dopamine neuron Vulnerability in Aged Mice

Parkinsons disease (PD) is an age-dependent neurodegenerative disorder characterized by the loss of substantia nigra dopaminergic (DAergic) neurons in ventral midbrain (MB). Identification of interactions between aging and the known risk variants is crucial to understanding the etiology of PD. Recessive mutations in SYNJ1 have recently been linked to familial early-onset atypical Parkinsonism. We now show an age-dependent decline of SYNJ1 expression in the striatum as well as in striatal DAergic terminals of aged mice. Heterozygous deletion of SYNJ1 in mice causes selective elevation of PIP2 in the MB, and manipulation of PIP2 levels also impairs synaptic vesicle recycling preferentially in MB neurons. SYNJ1+/- mice display progressive PD-like behavioral alterations and DAergic terminal degeneration. Furthermore, we found down-regulation of human SYNJ1 transcripts in a subset of sporadic PD brains, corroborating the role of an age-dependent decrease in SYNJ1 in predisposing DAergic neuron vulnerability and PD pathogenesis.

neuroscience↗