Mammalian Genome最新文献_第3页

Comprehensive analysis of breast cancer oxidative stress related gene signature: a combination of bulk and single-cell RNA sequencing analysis. 乳腺癌氧化应激相关基因特征的综合分析：整体和单细胞RNA测序分析的结合。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-04-24 DOI: 10.1007/s00335-025-10130-2

Yuheng Shao, Yumeng Zhang, Jie Chen, Liang Yang, Meihong Wu, Zhiyuan Fan, Zhigang Zhuang

{"title":"Comprehensive analysis of breast cancer oxidative stress related gene signature: a combination of bulk and single-cell RNA sequencing analysis.","authors":"Yuheng Shao, Yumeng Zhang, Jie Chen, Liang Yang, Meihong Wu, Zhiyuan Fan, Zhigang Zhuang","doi":"10.1007/s00335-025-10130-2","DOIUrl":"10.1007/s00335-025-10130-2","url":null,"abstract":"Oxidative stress influences the tumor microenvironment, driving breast cancer progression and drug resistance. This study aimed to develop a prognostic gene signature based on oxidative stress-related genes (OSRGs) to assess patient outcomes and immune status. UCSC Xena ( http://xena.ucsc.edu/ ) and GEO ( https://www.ncbi.nlm.nih.gov/geo/ ) databases were used to obtain RNA-seq data and corresponding clinical information. The classification of OSRG subtypes was performed using consensus cluster. The oxidative stress related scoring (OSRS) model was established combining Lasso regression and multivariable Cox regression. The analysis of tumor mutation burden (TMB) and somatic mutation were carried out using the R package 'maftools'. Python package 'pySCENIC' was used to construct and analyze the transcription factor network. Additionally, immune infiltration was analyzed using R packages 'CIBERSORT' and 'ESTIMATE'. Three OSRG subgroups were identified and the Differentially Expressed Genes (DEGs) among them were enriched in humoral immunity, cytokine communication and drug metabolism pathways. OSRS model was established based on the DEGs and revealed association with patients' overall survival, somatic mutations, immune statuses, and drug resistance. Finally, transcription factor TFAP2B was identified as a key regulatory factor in high OSRS cells, and associated with a negative prognostic outcome in Basal-like breast cancer patients.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"692-707"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies. 小鼠模型在罕见先天性异常患者诊断中的作用。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-03-18 DOI: 10.1007/s00335-025-10114-2

Stephen R F Twigg, Nicholas D E Greene, Deborah J Henderson, Pleasantine Mill, Karen J Liu

{"title":"The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.","authors":"Stephen R F Twigg, Nicholas D E Greene, Deborah J Henderson, Pleasantine Mill, Karen J Liu","doi":"10.1007/s00335-025-10114-2","DOIUrl":"10.1007/s00335-025-10114-2","url":null,"abstract":"Congenital anomalies are structural or functional abnormalities present at birth, which can be caused by genetic or environmental influences. The availability of genome sequencing has significantly increased our understanding of congenital anomalies, but linking variant identification to functional relevance and definitive diagnosis remains challenging. Many genes have unknown or poorly understood functions, and with a lack of clear genotype-to-phenotype correlations, it can be difficult to move from variant discovery to diagnosis. Thus, for most congenital anomalies, there still exists a \"diagnostic odyssey\" which presents a significant burden to patients, families and society. Animal models are essential in the gene discovery process because they allow researchers to validate candidate gene function and disease progression within intact organisms. However, use of advanced model systems continues to be limited due to the complexity of efficiently generating clinically relevant animals. Here we focus on the use of precisely engineered mice in variant-to-function studies for resolving molecular diagnoses and creating powerful preclinical models for congenital anomalies, covering advances in genomics, genome editing and phenotyping approaches as well as the necessity for future initiatives aligning animal modelling to deep patient multimodal datasets.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"354-362"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Selection signatures detection in Nelore, Gir, and Red Sindhi cattle breeds. Nelore， Gir和Red Sindhi牛品种的选择特征检测。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-04-02 DOI: 10.1007/s00335-025-10125-z

Maria Victória Henrique Genuíno, Ayrton Fernandes de Oliveira Bessa, Roney Teixeira da Silva, Giovanna Maria Dos Santos Câmara, João Cláudio do Carmo Panetto, Marco Antônio Machado, Sabrina Luzia Caetano, Salvador Boccaletti Ramos, Danísio Prado Munari, Tad Sonstegard, Marcos Vinícius Gualberto Barbosa da Silva, Marcos Eli Buzanskas

{"title":"Selection signatures detection in Nelore, Gir, and Red Sindhi cattle breeds.","authors":"Maria Victória Henrique Genuíno, Ayrton Fernandes de Oliveira Bessa, Roney Teixeira da Silva, Giovanna Maria Dos Santos Câmara, João Cláudio do Carmo Panetto, Marco Antônio Machado, Sabrina Luzia Caetano, Salvador Boccaletti Ramos, Danísio Prado Munari, Tad Sonstegard, Marcos Vinícius Gualberto Barbosa da Silva, Marcos Eli Buzanskas","doi":"10.1007/s00335-025-10125-z","DOIUrl":"10.1007/s00335-025-10125-z","url":null,"abstract":"Technological advances in genomics and bioinformatics made it possible to study the genetic structure of breeds and understand genome changes caused by selection over generations. Our objective was to evaluate selection signatures (SS) in Nelore, Gir, and Red Sindhi cattle from Brazil and the Asian continent to identify divergent variants due to the history of formation and selection of populations, with a focus on the SS of animals from Brazil. Extended haplotype homozygosities between populations (XP-EHH), the ratio of site-specific extended haplotype homozygosity between populations (Rsb), and the allelic fixation index (Fst) were used to detect SS. Considering a window size of 50-kb, a non-sliding window approach was used to define SS regions. A total of 62, 57, and 72 genes were co-located within SS regions for Nelore, Gir, and Red Sindhi, respectively, and used to perform functional analyses per breed. Most genes were associated with productive and reproductive traits, while others were related to thermotolerance, the immune system, temperament, and coat color. The identified SS demonstrate how animal breeding programs shape the genetic makeup of these breeds to meet production system requirements, given that animals from Brazil and the Asian continent have undergone different selection processes. The identification of genes related to thermotolerance, temperament, and the immune system suggests specific alleles have enabled animals to adapt to environmental conditions and selection criteria in Brazil. Understanding SS can support breeding strategies for Nelore, Gir, and Red Sindhi cattle, contributing to enhanced resistance, adaptation, and productivity to meet food production demands.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"557-572"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

CTNNB1 syndrome mouse models. CTNNB1综合征小鼠模型。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-01-20 DOI: 10.1007/s00335-025-10105-3

Duško Lainšček, Vida Forstnerič, Špela Miroševič

{"title":"CTNNB1 syndrome mouse models.","authors":"Duško Lainšček, Vida Forstnerič, Špela Miroševič","doi":"10.1007/s00335-025-10105-3","DOIUrl":"10.1007/s00335-025-10105-3","url":null,"abstract":"CTNNB1 syndrome is a rare neurodevelopmental disorder, affecting children worldwide with a prevalence of 2.6-3.2 per 100,000 births and often misdiagnosed as cerebral palsy. De novo loss-of-function mutations in the Ctnnb1 gene result in dysfunction of the β-catenin protein, disrupting the canonical Wnt signaling pathway, which plays a key role in cell proliferation, differentiation, and tissue homeostasis. Additionally, these mutations impair the formation of cell junctions, adversely affecting tissue architecture. Motor and speech deficits, cognitive impairment, cardiovascular and visual problems are just some of the key symptoms that occur in CTNNB1 syndrome patients. There is currently no effective treatment option available for patients with CTNNB1 syndrome, with support largely focused on the management of symptoms and physiotherapy, yet recently some therapeutic approaches are being developed. Animal testing is still crucial in the process of new drug development, and mouse models are particularly important. These models provide researchers with new understanding of the disease mechanisms and are invaluable for testing the efficacy and safety of potential treatments. The development of various mouse models with β-catenin loss- and gain-of-function mutations successfully replicates key features of intellectual disability, autism-like behaviors, motor deficits, and more. These models provide a valuable platform for studying disease mechanisms and offer a powerful tool for testing the therapeutic potential and effectiveness of new drug candidates, paving the way for future clinical trials.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"390-402"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. 肌肉骨骼溶酶体贮积症大鼠模型及其在基因治疗方法临床前评估中的作用。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-03-18 DOI: 10.1007/s00335-025-10121-3

Sara Marcó, Sergio Muñoz, Fatima Bosch, Veronica Jimenez

{"title":"Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.","authors":"Sara Marcó, Sergio Muñoz, Fatima Bosch, Veronica Jimenez","doi":"10.1007/s00335-025-10121-3","DOIUrl":"10.1007/s00335-025-10121-3","url":null,"abstract":"Mice have been a cornerstone of biomedical research for decades for studying a wide range of biological processes, disease mechanisms, and the assessment of therapies. Moreover, mice present several practical advantages such as small size, low cost and ease of genetic manipulation. While mice offer numerous benefits, for certain disease areas, rat models provide a closer representation of human disease progression, offering better insights for translational research and therapeutic development. This closer resemblance is particularly important for research focusing on diseases involving the cardiovascular and musculoskeletal system. In rats, the pathophysiology of these diseases mirrors the clinical alterations observed in humans. This review focuses on the key phenotypic differences between mouse and rat models of lysosomal storage disorders that specifically manifest with cardiac, skeletal muscle, and bone and joint involvement (Pompe and Danon diseases, and Maroteaux-Lamy and Morquio A syndromes). Furthermore, we discuss the therapeutic potential of various adeno-associated viral vector-mediated gene therapies that have been evaluated in these rat models, highlighting their contributions to advancing treatment options for these debilitating conditions.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"488-499"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Alpha-synuclein pathology and Parkinson's disease-related olfactory dysfunctions: an update on preclinical models and therapeutic approaches. α -突触核蛋白病理学和帕金森病相关嗅觉功能障碍：临床前模型和治疗方法的最新进展

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-04-28 DOI: 10.1007/s00335-025-10128-w

Jancy Nixon Abraham, Devesh Rawat, Priyadharshini Srikanth, Lisni P Sunny, Nixon M Abraham

{"title":"Alpha-synuclein pathology and Parkinson's disease-related olfactory dysfunctions: an update on preclinical models and therapeutic approaches.","authors":"Jancy Nixon Abraham, Devesh Rawat, Priyadharshini Srikanth, Lisni P Sunny, Nixon M Abraham","doi":"10.1007/s00335-025-10128-w","DOIUrl":"10.1007/s00335-025-10128-w","url":null,"abstract":"Olfactory dysfunction (OD) is considered one of the early signs of Parkinson's disease (PD), affecting over 90% of PD patients. OD often appears several years before the onset of motor symptoms and is therefore considered an early biomarker of PD. Recent studies have shown that COVID-19 infection might lead to worsening of symptoms and acceleration of disease progression in neurodegenerative disorders, where OD is a common symptom to both. Hence, it is essential to accurately monitor olfactory fitness in clinical settings using any of the currently available olfactory function tests. Even after a quarter of a century of the discovery of α-synuclein (α-syn) pathogenesis in PD, many aspects related to the α-syn pathogenesis in OD remain unknown. Currently, there is no definitive cure for PD; the disease management options include dopaminergic medications, deep brain stimulations, stem cells, and immunotherapy. Generating reliable PD animal models is critical for understanding the molecular pathways and neural circuits affected by disease conditions. This might contribute to the development and validation of new therapeutic approaches. This review discusses the known mechanisms of α-syn aggregated forms causing neuronal death, the recent developments in the PD preclinical models with ODs, and the treatment strategies employed.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"444-464"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fluorescent reporter mouse models for genome editing: choices and challenges. 用于基因组编辑的荧光报告小鼠模型：选择与挑战。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2024-10-28 DOI: 10.1007/s00335-024-10079-8

Christopher J Walkey

引用次数: 0

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations. 通过研究E209K和E211K突变了解PACS2综合征的发病机制。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2024-12-30 DOI: 10.1007/s00335-024-10098-5

Arkadiusz Zbikowski, Tomasz Kowalczyk, Petr Kasparek, Jan Prohazka, Radislav Sedlacek, Michał Ciborowski, Dominik Cysewski, Kacper Łukasiewicz

{"title":"Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.","authors":"Arkadiusz Zbikowski, Tomasz Kowalczyk, Petr Kasparek, Jan Prohazka, Radislav Sedlacek, Michał Ciborowski, Dominik Cysewski, Kacper Łukasiewicz","doi":"10.1007/s00335-024-10098-5","DOIUrl":"10.1007/s00335-024-10098-5","url":null,"abstract":"Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein trafficking between cellular membranes. This function impacts crucial processes like apoptosis, mitochondria-endoplasmic reticulum interaction, and subsequently Ca2+ flux, lipid biosynthesis, and autophagy. Missense mutations, particularly E209K and E211K, are linked to developmental and epileptic encephalopathy-66 (DEE66), known as PACS2 syndrome. Individuals with this syndrome exhibit neurodevelopmental delay, seizures, facial dysmorphism, hypotonia, and delayed motor skills.Understanding the impact of these missense mutations on molecular processes is crucial. Studies suggest that E209K mutation decreases phosphorylation, increases the survival time of protein, and modifies protein-protein interaction, consequently leading to disruption of calcium flux and lower resistance to apoptosis induction. Unfortunately, to date, only a limited number of research groups have investigated the effects of mutations in the PACS2 gene. Current research on PACS2 syndrome is hampered by the lack of suitable models. While in vitro models using transfected cell lines offer insights, they cannot fully capture the disease's complexity.To address this, utilizing cells from individuals with PACS2 syndrome, specifically induced pluripotent stem cells (iPSCs), holds promise for understanding phenotypic diversity and developing personalized therapies. However, iPSC models may not fully capture tissue-specific effects of the E209K/E211K mutation. In vivo studies using animal models, particularly mice, could overcome these limitations.This review summarizes current knowledge about PACS2 structure and functions, explores the cellular consequences of E209K and E211K mutations, and highlights the potential of iPSC and mouse models in advancing our understanding of PACS2 syndrome.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"363-371"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gut metabolites and functional recovery after ischemic stroke: a genetic perspective. 缺血性脑卒中后肠道代谢物和功能恢复：遗传学观点。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-03-08 DOI: 10.1007/s00335-025-10120-4

Wenpeng Wu, Luwen Zhu, Jiongliang Zhang, Xinyue Li, Donghui Yu, Yuting Wang, Yumeng Su, Xiangyu Wei, Hanwen Ma, Wenjing Song, Jinting Li, Lili Teng, Qiang Tang, Minmin Wu

{"title":"Gut metabolites and functional recovery after ischemic stroke: a genetic perspective.","authors":"Wenpeng Wu, Luwen Zhu, Jiongliang Zhang, Xinyue Li, Donghui Yu, Yuting Wang, Yumeng Su, Xiangyu Wei, Hanwen Ma, Wenjing Song, Jinting Li, Lili Teng, Qiang Tang, Minmin Wu","doi":"10.1007/s00335-025-10120-4","DOIUrl":"10.1007/s00335-025-10120-4","url":null,"abstract":"The current study explores the relationship between genetically predicted gut metabolites and functional outcomes following ischemic stroke, utilizing the Mendelian Randomization (MR) framework. Genetic information regarding gut microbiota-derived metabolites was sourced from 2076 participants of European descent participating in the Framingham Heart Study. Data on functional outcomes 90 days post-ischemic stroke were acquired from the Genetics of Ischemic Stroke Functional Outcomes Network (n = 6,021). Genetic proxies for gut microbiota were identified from a large-scale GWAS study by the MiBioGen consortium, encompassing 18,340 samples across 24 distinct cohorts. The inverse variance weighting method served as the primary analytical approach. Host gene-influenced gut microbiota was linked to both favorable and unfavorable functional outcomes post-ischemic stroke, involving nine and two specific microbiomes, respectively. Moreover, genetically predicted metabolites of gut microbiota showed associations with functional outcomes post-ischemic stroke, exhibiting one positive and five negative correlations. Sensitivity analyses employing alternative methods and models, not adjusted for baseline stroke severity, consistently supported these findings. This research provides genetic substantiation of the influence of specific gut microbiota and metabolites on the recovery process following ischemic stroke, suggesting a potential causal relationship. This insight offers valuable perspectives on the trajectory of post-stroke recovery and prognostic development.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"630-637"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

TCR CDR3 chemical complementarity to HPV epitopes is associated with a better outcome for cervical cancer. TCR CDR3与HPV表位的化学互补与宫颈癌更好的预后相关。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-06-01 Epub Date: 2025-04-11 DOI: 10.1007/s00335-025-10127-x

Deo Rei L Agnila, Rahul Jain, Michael J Diaz, Tabitha R Hudlock, Rachel A Eakins, Andrea Chobrutskiy, Boris I Chobrutskiy, George Blanck

{"title":"TCR CDR3 chemical complementarity to HPV epitopes is associated with a better outcome for cervical cancer.","authors":"Deo Rei L Agnila, Rahul Jain, Michael J Diaz, Tabitha R Hudlock, Rachel A Eakins, Andrea Chobrutskiy, Boris I Chobrutskiy, George Blanck","doi":"10.1007/s00335-025-10127-x","DOIUrl":"10.1007/s00335-025-10127-x","url":null,"abstract":"Despite the fact that HPV vaccines are likely to lead to a significant reduction in cervical cancer occurrence, there remains cervical cancer incidence independent of the vaccine and cervical cancer arising in the absence of vaccination. Thus, continued efforts are needed to address the potential parameters of cervical cancer that could impact therapy and could lead to additional ways of reducing cervical cancer death rates. Adaptive immune receptor recombinations were obtained from the cancer genome atlas (TCGA) cervical cancer database through tumor exome and RNAseq files as well as from the independent Cancer Genome Characterization Initiative (CGCI) cervical cancer dataset. T-cell receptor (TCR) complementarity determining region-3's (CDR3s) were then assessed, based on chemical complementarity to human papillomavirus (HPV) T-cell epitopes. Results indicated increased overall survival probabilities consistently across the three TCR datasets with TCR CDR3 chemical complementarity to the same HPV epitopes, specifically immune epitope database (IEDB) designations: IEDB-1625373, IEDB-174148, and IEDB-110943. Among other potential applications of these results, the results may indicate HPV epitopes that could be useful targets for immunotherapy.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"683-691"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0