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Srinivas, N.

Publications and source records attributed to Srinivas, N..

7 recordsLinked to original sources

Spatial Compartmentalization of TCR Repertoires Between Primary Melanomas and Sentinel Lymph Nodes Reveals Distinct Clonal Architectures and Shared Antigen Recognition

Primary tumors and their sentinel lymph nodes are functionally linked sites of anti-tumor immunity, yet how T cell receptor (TCR) repertoires are organized across these compartments remains incompletely understood. We thus performed TCR{beta} sequencing on paired primary melanoma tumors and sentinel lymph nodes from 24 treatment-naive patients to quantify TCR repertoire diversity and clonal architecture as markers of antigen-driven selection. Primary tumors exhibited markedly reduced TCR diversity and pronounced clonal dominance compared with matched lymph nodes, consistent with selective expansion of tumor-reactive T cells. Tumor-associated clonotypes displayed significantly longer CDR3 sequences driven by increased non-templated nucleotide insertions, a feature associated with neoantigen recognition, and showed biased TRBV and TRBJ gene usage indicative of CD8+ T cell enrichment. Annotation against known melanoma differentiation and cancer testis antigens identified only a small fraction of clonotypes with characterized specificities, and fewer than 10% of these were shared between tumors and lymph nodes, suggesting that most expanded tumor clonotypes recognize patient-specific antigens. To identify shared immune features beyond individual clonotypes, we applied ClustIRR to build a joint graph linking clonotypes across repertoires by CDR3 sequence similarity and detected Communities on the Joint graph (CJs) to uncover recurrent TCR sequence motifs. Differential occupancy analysis identified distinct CJs segregating tumors and lymph nodes, including a limited number of recurrent CJs targeting MART-1 epitopes, while the majority were patient-specific. Together, these data define spatially structured TCR repertoire architectures in human melanoma and establish a scalable framework for interrogating tumor-immune interactions. eLife DigestMelanoma is a skin cancer harboring many UV-associated mutations, making it recognizable to the immune system. T cells attack cancer using specialized molecular structures called T cell receptors (TCRs). They are frequently referred to as specific keys that only fit into the respective locks, i.e. HLA molecules presenting the target antigen. Surgeons often remove both the tumor and the tumor draining lymph node (aka sentinel lymph node). The tumor is where T cells directly fight cancer, while the sentinel lymph node is where new anti-tumor T cells are first activated. How these two sites coordinate immune surveillance is not completely understood. Here, Kitanovski and colleagues sequenced TCRs from paired tumors and sentinel lymph nodes obtained from melanoma patients. These analyses demonstrated that primary tumors have dramatically reduced TCR diversity, dominated by a few massively expanded T cell clones, whereas sentinel lymph nodes contain broad, balanced repertoires. This reveals intense local selection within the tumor-a small set of tumor-specific T cells expand repeatedly while the lymph node preserves diverse immune reserves. Examining TCR structure revealed a second key difference. Tumor-infiltrating T cells possess on average slightly longer CDR3 loops-the region contacting antigens-especially among dominant clones. These longer loops arise from random nucleotide insertions. Prior work shows that self-antigen-specific T cells have shorter CDR3s due to thymic constraints, whereas T cells recognizing tumor-specific mutation-derived neoantigens escape these restrictions and have longer CDR3s. Thus, tumor TCRs appear tailored for recognizing patient-specific neoantigens. The authors could only use TCRs matching known databases for shared melanoma antigens like MART-1 to identify TCR-specific epitopes; most tumor-expanded TCRs could not be annotated because patient-specific neoantigens are not in public databases. This limitation itself is informative- most expanded tumor TCRs likely target private neoantigens. Grouping TCRs by sequence similarity into "communities" revealed striking patterns: sentinel lymph nodes showed conserved community composition across patients, consistent with responses to common viruses, while tumor repertoires were highly individualized, reflecting each tumors unique mutations. These findings establish how anti-melanoma immunity is spatially organized: sentinel lymph nodes contain diverse T cell landscapes, while in primary tumors melanoma-infiltrating T cells appear to have undergone intense selection for neoantigen recognition. This provides a foundation for using TCR features as biomarkers and designing personalized T cell therapies.

cancer biology↗

Redirecting resistance evolution in BRAFV600 melanoma by inhibition of the peroxiredoxin-thioredoxin system

Drug-tolerant persister cells (DTPs) exhibit remarkable cell state heterogeneity and phenotypic evolvability. However, the central question of how DTPs epigenetically coordinate their metabolic flexibility to adapt early to therapeutic stress remains unanswered. We have recently shown that the histone demethylase KDM5B, which is intrinsically expressed in differentiated melanoma DTPs, reprograms the metabolic cell landscape. However, the exact mechanism by which KDM5B affects underlying metabolic enzymes, and whether this reveals new druggable vulnerabilities, remain unknown. By transcriptional and epigenetic profiling of BRAFV600 melanoma cells following KDM5B gene silencing, we discovered a direct molecular axis between the epigenetic regulator KDM5B and the PRDX/TXN ROS detoxification system. This metabolic axis is regulated independently of KDM5Bs demethylase activity. Furthermore, RNAi approaches and the pharmacological inhibition of the PRDX/TXN system led to ROS-induced cell death in differentiated melanoma DTPs and a delay of resistance development to MAPK inhibition. This process was independent of lipid-ROS-driven ferroptosis. Additionally, single-cell transcriptome analyses from pre-clinical melanoma models under continuous MAPK inhibitory treatment demonstrated altered cellular differentiation dynamics, with a reduction in the early evolution into the mesenchymal DTP state under concomitant PRDX inhibition. Interestingly, the degree of melanoma cell state differentiation at the onset of treatment was a major determinant for the transition towards the neural crest-like DTP state. Our study identified a high degree of epigenetic-metabolic connectivity and flexibility within the melanoma DTP pool and urges caution with single redox pathway-targeted strategies for tumor elimination in the future. Prospectively, our results point towards a new resistance targeting strategy for BRAFV600 melanoma patients based on pharmacological re-direction of the evolution of melanoma cell states already at therapy onset. HighlightsO_LITranscriptional and epigenetic profiling identified KDM5B as a regulator of the PRDX/TXN-ROS detoxification system C_LIO_LIPRDX inhibition increases the vulnerability of KDM5Bhigh DTPs to ROS, independent of ferroptosis C_LIO_LIPRDX inhibition delays resistance to MAPK inhibition in BRAFV600 melanoma cells C_LIO_LILongitudinal single-cell transcriptome analysis reveals that PRDX inhibition re-directs early DTP evolution C_LIO_LIPRDX/TXN gene expression is predictive for melanoma patient survival C_LI

cancer biology↗

Cellular Dynamics Upon Immune Checkpoint Inhibition

Immune checkpoint inhibitors (ICI) have transformed cancer therapy, yet the basis of variable patient responses remains unclear. We assembled a longitudinal single-cell RNA sequencing atlas of 441 samples from 241 patients across ten cancers to map treatment-associated remodeling of the tumor immune microenvironment (TIME). Using a hierarchical reference-guided deep-phenotyping framework, we defined 77 immune and stromal subtypes and resolved four conserved TIME subtypes. Approximately 40% of tumors shifted between states during therapy, and the transition was more predictive of outcome than the baseline state. Across 1,988 bulk transcriptomic tumors, favorable transitions toward inflamed or B-cell-enriched subtype tracked with improved response and survival, while persistence in or shifts towards myeloid dominance indicated resistance. We derived a transition score that predicted outcomes for baseline tumors across independent cohorts. These findings establish immunotype transitions as a central determinant of ICI, offering new avenues for response prediction and rational immunotherapy design. HighlightsO_LIA pan-cancer meta-analysis maps treatment-associated remodeling of the tumor immune microenvironment. C_LIO_LIFour conserved TIME states emerge across cancer subtypes. C_LIO_LITIME transition patterns during treatment are associated with clinical outcome. C_LIO_LIBaseline immune programs derived transition scores predict treatment response and survival. C_LI

cancer biology↗

Coding and noncoding somatic mutations in basal cell carcinoma

Basal cell carcinoma (BCC) represents the most commonly diagnosed human cancer among persons of European ancestry with etiology mainly attributed to sun-exposure. In this study we investigated mutations in coding and flanking regions of the PTCH1 and TP53 genes and noncoding alterations in the TERT and DPH3 promoters in 191 BCC tumors. In addition, we measured CpG methylation within the TERT hypermethylated oncological region (THOR) and transcriptions levels of the reverse transcriptase subunit. We observed mutations in PTCH1 in 59% and TP53 in 31% of the tumors. Noncoding mutations in TERT and DPH3 promoters were detected in 59% and 38% of the tumors, respectively. We observed a statistically significant co-occurrence of mutations at the four investigated loci. While PTCH1 mutations tended to associate with decreased patient age at diagnosis; TP53 mutations were associated with light skin color and increased number of nevi; TERT and DPH3 promoter with history of cutaneous neoplasms in BCC patients. TERT promoter mutations but not THOR methylation associated with an increased expression of the reverse transcriptase subunit. Our study signifies, in addition to the protein altering mutations in the PTCH1 and TP53 genes, the importance of noncoding mutations in BCC, particularly functional alterations in the TERT promoter.

cancer biology↗

Direct capture of CRISPR guides enables scalable, multiplexed, and multi-omic Perturb-seq

Pairing CRISPR-based genetic screens with single-cell transcriptional phenotypes (Perturb-seq) has advanced efforts to explore the function of mammalian genes and genetic networks. We present strategies for Perturb-seq that enable direct capture of CRISPR sgRNAs within 3 or 5 single-cell RNA-sequencing libraries using the 10x Genomics platform. This technology greatly expands the accessibility, scalability, and flexibility of Perturb-seq, specifically enabling use with programmed combinatorial perturbations and multiplexing with multi-omic measurements.

genomics↗

Telomere length, arsenic exposure and risk of basal cell carcinoma of skin

Telomere length per se a heritable trait has been reported to be associated with different diseases including cancers. In this study based on arsenic exposed 528 cases with basal cell carcinoma of skin (BCC) and 533 healthy controls, we observed a statistically significant association between decreased telomere length and increased BCC risk (OR = 5.92, 95% CI = 3.92-9.01, P<0.0001). We also observed that higher arsenic exposure (>1.32 {micro}g/L) was statistically significantly associated with decreased telomere length ({beta} = -0.026, 95% CI = - 0.05-0.003, P = 0.02). The interaction between arsenic exposure and telomere length on BCC risk was statistically significant (P = 0.02). Within each tertile based on arsenic exposure, the individuals with shorter telomeres were at an increased risk of BCC, with highest risk being in the highest exposed group (OR = 16.13, 95% CI = 6.71-40.00, P<0.0001); followed by those in medium exposure group (OR = 5.05, 95% CI = 2.29-10.20, P <0.0001), and low exposure group (OR = 3.44, 95% CI = 1.81-6.54, P = 0.0002). The combined effect of highest arsenic exposure and shortest telomeres on the risk of BCC (OR = 10.56, 95% CI = 5.14-21.70) showed a statistically significant departure from additivity (interaction constant ratio 6.56, P = 0.03). Our results show that in the presence of arsenic exposure, decreased telomere length predisposes individuals to increased risk of BCC, with the effect being synergistic in individuals with highest arsenic exposure and shortest telomeres.

genetics↗

Enzyme-Free Nucleic Acid Dynamical Systems

Chemistries exhibiting complex dynamics--from inorganic oscillators to gene regulatory networks--have been long known but either cannot be reprogrammed at will, or rely on the sophisticated chemistry underlying the central dogma. Can simpler molecular mechanisms, designed from scratch, exhibit the same range of behaviors? Abstract coupled chemical reactions have been proposed as a programming language for complex dynamics, along with their systematic implementation using short synthetic DNA molecules. We developed this technology for dynamical systems, identifying critical design principles and codifying them into a compiler automating the design process. Using this approach, we built an oscillator containing only DNA components, establishing that Watson-Crick base pairing interactions alone suffice for arbitrarily complex dynamics. Our results argue that autonomous molecular systems that interact with and control their chemical environment can be designed via molecular programming languages.

bioengineering↗