Mammalian Genome最新文献

筛选
英文 中文
Exploring the molecular function of LYPD3 from pan-cancer to lung cancer: based on bioinformatics and cellular experiments. 基于生物信息学和细胞实验探讨泛癌到肺癌的LYPD3分子功能。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-19 DOI: 10.1007/s00335-026-10198-4
Yuan-Xiang Shi, Jian-Hua Yan, Peng-Hui Dai
{"title":"Exploring the molecular function of LYPD3 from pan-cancer to lung cancer: based on bioinformatics and cellular experiments.","authors":"Yuan-Xiang Shi, Jian-Hua Yan, Peng-Hui Dai","doi":"10.1007/s00335-026-10198-4","DOIUrl":"10.1007/s00335-026-10198-4","url":null,"abstract":"<p><p>As a major disease that seriously threatens human health, the prevention and control of malignant tumors has become an important challenge for global public health. In this study, we first investigated the expression level, prognostic value, and diagnostic value of LYPD3 in pan-cancer, and its effects on the immune microenvironment, genetic variation, and antitumor drug sensitivity. RT-PCR and western blot were used to detect the transfection efficiency. Cell apoptosis was detected by flow cytometry. Transwell assay for detection of cell invasion and migration. Western blot was used to detect the expression of Bax, Bcl-2, E-cadherin, N-cadherin and Vimentin. LYPD3 showed high expression in lung cancer, both at the mRNA and protein level. Single-cell transcriptome and spatial transcriptomics reveal that LYPD3 is highly expressed in tumor cells and tumor-associated fibroblasts. ROC analysis revealed that LYPD3 exhibited significant diagnostic efficacy in pan-cancer, and Cox regression analysis revealed that LYPD3 expression was significantly associated with the risk of death in certain cancer types. LYPD3 has a good diagnostic value and prognostic predictive value in pan-cancer. GDSC and CTRP data analysis confirmed that LYPD3 expression was negatively correlated with the drug sensitivity of lapatinib, erlotinib, and afatinib. Focusing on the expression of LYPD3 in lung cancer, cellular experiments revealed that LYPD3 promotes lung cancer cell invasion and metastasis while inhibiting apoptosis. Meanwhile, LYPD3 has a good diagnostic value and prognostic prediction value.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"26"},"PeriodicalIF":2.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12816081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998617","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
Multi-omics Mendelian randomization and machine learning identify candidate therapeutic targets for Alzheimer's and Parkinson's diseases. 多组学孟德尔随机化和机器学习确定阿尔茨海默病和帕金森病的候选治疗靶点。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-16 DOI: 10.1007/s00335-025-10191-3
Xun Li, Lei Zhang, Jinyan Xia, Meiling Zheng, Zhipeng Zhou, Jing Cai
{"title":"Multi-omics Mendelian randomization and machine learning identify candidate therapeutic targets for Alzheimer's and Parkinson's diseases.","authors":"Xun Li, Lei Zhang, Jinyan Xia, Meiling Zheng, Zhipeng Zhou, Jing Cai","doi":"10.1007/s00335-025-10191-3","DOIUrl":"10.1007/s00335-025-10191-3","url":null,"abstract":"<p><p>Neurodegenerative diseases (NDDs), including Alzheimer's disease (AD) and Parkinson's disease (PD), are major public health challenges lacking effective therapies. To identify potential drug targets, we integrated large-scale genome-wide association studies with expression, methylation, protein, and splicing QTL datasets using Mendelian Randomization (MR) and summary-data-based MR (SMR). Colocalization analysis and machine learning were applied to prioritize candidate genes, followed by in silico druggability evaluation through molecular docking and molecular dynamics (MD) simulations. In animal models, candidate genes identified by transcriptomic analysis were further validated using integrative molecular and functional experiments. We identified several genes with potential causal links to AD (e.g., IQCE, HDHD2, ALPP) and PD (e.g., IL15, STK3, CHRNB1). Transcriptomic analyses indicated a consistent downregulation of IL-15 in PD model mice, corroborated by subsequent Western blot and immunohistochemical validation. Among predicted compounds, Prednisolone (ALPP), Sirolimus (IL15), and CHEMBL379975 (STK3) showed favorable binding affinities and stable MD trajectories, suggesting promising therapeutic relevance. Collectively, these findings highlight 12 QTL-regulated genes as promising molecular targets for further investigation in the context of NDDs. While the computational results provide a useful basis for hypothesis generation, experimental validation will be essential to determine the biological relevance and therapeutic potential of these candidate genes and compounds.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"24"},"PeriodicalIF":2.6,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989508","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
Identification and validation of PANX1 as an inflammasome-related biomarker in gestational diabetes mellitus: insights from machine learning and experimental approaches. PANX1作为妊娠糖尿病炎症小体相关生物标志物的鉴定和验证:来自机器学习和实验方法的见解
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-16 DOI: 10.1007/s00335-026-10195-7
Padmanaban M Abirami, K L Milan, M Anuradha, Kunka Mohanram Ramkumar
{"title":"Identification and validation of PANX1 as an inflammasome-related biomarker in gestational diabetes mellitus: insights from machine learning and experimental approaches.","authors":"Padmanaban M Abirami, K L Milan, M Anuradha, Kunka Mohanram Ramkumar","doi":"10.1007/s00335-026-10195-7","DOIUrl":"10.1007/s00335-026-10195-7","url":null,"abstract":"<p><p>Gestational diabetes mellitus (GDM) is characterized by glucose intolerance during pregnancy, resulting from insulin resistance, and is associated with increased maternal and neonatal risks. Inflammasomes play a critical role in GDM pathophysiology by driving immune dysregulation and chronic inflammation. This study aimed to identify inflammasome-related genes, which may serve as potential diagnostic markers and contribute to GDM pathogenesis. RNA sequencing datasets from the GEO were merged and analysed to identify differentially expressed genes (DEGs). The key genes identified by LASSO logistic regression, random forest, Boruta, and SVM-RFE algorithms were superimposed with genes related to inflammasomes. In addition, the CIBERSORT algorithm was used to analyse the immune characteristics of GDM. The expression of inflammasome-related genes was validated in the clinical samples by qPCR and correlated with clinical parameters. PANX1 was identified as a key inflammasome-associated gene, with its diagnostic potential confirmed by ROC curve analysis with an AUC of 93.75%. CIBERSORT and correlation analyses confirmed a significant association between PANX1 expression and immune cell infiltration. qPCR validation using placental samples from GDM and control subjects revealed elevated PANX1 expression in GDM. Furthermore, a significant correlation was observed between PANX1 expression and levels of glucose, HbA1c, and HOMA-IR, suggesting that elevated PANX1 may be associated with metabolic dysregulation in GDM. This study highlights PANX1 as a novel diagnostic biomarker and a therapeutic target in GDM pathophysiology.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"25"},"PeriodicalIF":2.6,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989484","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
Exploration of shared gene signatures and molecular mechanisms between psoriasis and COVID-19: evidence from transcriptome data. 银屑病和COVID-19之间共享基因特征和分子机制的探索:来自转录组数据的证据
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-13 DOI: 10.1007/s00335-026-10194-8
Rong-Jing Dong, Lu-Hui Yang, Yu-Ye Li, You-Wang Lu
{"title":"Exploration of shared gene signatures and molecular mechanisms between psoriasis and COVID-19: evidence from transcriptome data.","authors":"Rong-Jing Dong, Lu-Hui Yang, Yu-Ye Li, You-Wang Lu","doi":"10.1007/s00335-026-10194-8","DOIUrl":"10.1007/s00335-026-10194-8","url":null,"abstract":"<p><p>Emerging evidence suggests that the onset or worsening of psoriasis can occur following COVID-19 infection or vaccination. Additionally, individuals with psoriasis may be more susceptible to COVID-19. However, the underlying mechanisms driving this phenomenon remain unclear. This study aims to explore the potential shared mechanisms and the complex interplay between psoriasis and COVID-19. Gene expression profiles for COVID-19 (GSE162183) and psoriasis (GSE54456) were obtained from the Gene Expression Omnibus (GEO) database. Common differentially expressed genes (DEGs) were identified, followed by functional annotation, protein–protein interaction (PPI) network construction, and hub gene identification. Validation of hub genes was performed using independent datasets (GSE152075 and GSE157103 for COVID-19; GSE121212 and GSE78097 for psoriasis). Receiver operating characteristic (ROC) curves were used to assess the predictive value of the hub genes. Gene set enrichment analysis (GSEA) and immune infiltration analysis were conducted, and expression patterns of the hub genes were further explored using a single-cell RNA sequencing dataset. A total of 66 common DEGs (all upregulated) were identified. The influenza A and NOD-like receptor signaling pathways were enriched in both COVID-19 and psoriasis. OAS2, MX1, IRF7, RSAD2, OASL, IFIT1, IFIT3, and ISG15 were identified as hub genes after validation, with all are under the curve (AUC) > 0.7 for COVID-19 and AUC > 0.9 for psoriasis. Upregulation of these hub genes was associated with increased infiltration of neutrophils and Th17 cells. Single-cell analysis showed that the hub genes were primarily expressed in epithelial cells in COVID-19 and keratinocytes in psoriasis. This study reveals shared pathogenic mechanisms between psoriasis and COVID-19 and provides insights into how COVID-19 may exacerbate psoriasis. The identified common pathways, hub genes, and associated cell types offer valuable guidance for future research and potential therapeutic targets.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"23"},"PeriodicalIF":2.6,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12799721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966475","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
MiR-324-5p mitigates experimental acute pancreatitis by suppressing Rock2 expression. MiR-324-5p通过抑制Rock2表达减轻实验性急性胰腺炎。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-12 DOI: 10.1007/s00335-025-10190-4
Qian Chen, Zhao Shen, Qingmei Wang, Ru Jiao, Yehong Liu, Tingting Meng, Yunhui Fei, Caixia Liu
{"title":"MiR-324-5p mitigates experimental acute pancreatitis by suppressing Rock2 expression.","authors":"Qian Chen, Zhao Shen, Qingmei Wang, Ru Jiao, Yehong Liu, Tingting Meng, Yunhui Fei, Caixia Liu","doi":"10.1007/s00335-025-10190-4","DOIUrl":"10.1007/s00335-025-10190-4","url":null,"abstract":"<p><p>Acute pancreatitis (AP) is a lethal pancreatic disease with limited therapeutic options. MicroRNA-324-5p (miR-324-5p) has shown dual roles across diseases, but its specific role and molecular targets in AP remain unclear. Plasma miR-324-5p levels were measured in 80 AP patients and 40 healthy controls using RT-qPCR. An in vivo AP mouse model was induced by caerulein, and agomir miR-324-5p was administered to assess its therapeutic effect. In vitro, MPC-83 pancreatic acinar cells were treated with caerulein and transfected with miR-324-5p mimics or co-transfected with Rock2 overexpression plasmids. Apoptosis and inflammation were evaluated using qPCR, Western blot, ELISA, and histology. Potential targets of miR-324-5p were predicted using StarBase, microT, miRmap, and PITA databases. Rock2 targeting was experimentally confirmed using dual-luciferase reporter assay, RNA pull-down, and RIP assays. MiR-324-5p was significantly downregulated in AP patient plasma and AP mouse pancreas. Experimental agomir-mediated overexpression of miR-324-5p alleviated pancreatic injury alleviated pancreatic injury, reduced serum amylase/lipase, MPO levels, and suppressed cytokines expression in vivo. In vitro, miR-324-5p restored cell viability, inhibited apoptosis, and suppressed inflammatory cytokines in caerulein-treated MPC-83 cells. Bioinformatic and experimental assays identified Rock2 as a direct target of miR-324-5p. Rock2 overexpression reversed the protective effects of miR-324-5p on apoptosis and inflammation in both cell and animal models. MiR-324-5p plays a protective role in AP by directly targeting Rock2 and suppressing inflammatory and apoptotic responses.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"21"},"PeriodicalIF":2.6,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959580","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
Genetic heritage of war: exploring transgenerational inheritance of PTSD and its molecular background. 战争的遗传遗产:探索PTSD的跨代遗传及其分子背景。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2026-01-12 DOI: 10.1007/s00335-025-10192-2
Nerma Džaferović, Adna Ašić
{"title":"Genetic heritage of war: exploring transgenerational inheritance of PTSD and its molecular background.","authors":"Nerma Džaferović, Adna Ašić","doi":"10.1007/s00335-025-10192-2","DOIUrl":"10.1007/s00335-025-10192-2","url":null,"abstract":"<p><p>This review article summarizes the available data about the potential link between war-related trauma and post-traumatic stress disorder (PTSD) and epigenetic alterations that could manifest in future generations. DNA methylation variations in stress-related genes such FKBP5, NR3C1, NR3C2, BDNF, and SLC6A4 have been seen in parents and/or their offspring in populations exposed to genocide, conflict, or combat. Certain results point to timing-dependent or parent-specific patterns, especially when maternal stress occurs during pregnancy. Results, however, are not consistent; some studies have found no significant differences in methylation, and the effects that are seen vary depending on the tissues, methods, and populations. Conclusions about causality or genuine inheritance are limited by the majority of existing studies' small sample sizes, cross-sectional designs, and inadequate control of environmental and psychosocial variables. Overall, existing research suggests potential links between epigenetic variation and war-related trauma, but clear evidence for transgenerational inheritance is still unconclusive, underscoring the need for more thorough and longitudinal studies.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"22"},"PeriodicalIF":2.6,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959587","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
Alantolactone curbs the malignant progression of bladder cancer partly via the HSP90AB1/LRP5/β-catenin axis. Alantolactone部分通过HSP90AB1/LRP5/β-catenin轴抑制膀胱癌的恶性进展。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2025-12-23 DOI: 10.1007/s00335-025-10182-4
Lijun Zhi, Lin Yuan
{"title":"Alantolactone curbs the malignant progression of bladder cancer partly via the HSP90AB1/LRP5/β-catenin axis.","authors":"Lijun Zhi, Lin Yuan","doi":"10.1007/s00335-025-10182-4","DOIUrl":"10.1007/s00335-025-10182-4","url":null,"abstract":"<p><p>Bladder cancer (BCa) represents a global health problem. Traditional Chinese medicine has a long history of treating cancers. This study has been conducted to illustrate the anti-cancer effects of alantolactone (ALT) in BCa and to explore the potential mechanism. The effects of ALT on the malignant behavior of T24 and TCCSUP cells were investigated. Bioinformatic methods were utilized to predict potential targets of ALT. Cells were infected with lentiviral overexpression vectors for heat shock protein HSP 90-beta (HSP90AB1) or treated with the β-catenin signaling inhibitor MSAB to explore their effects on BCa cell behaviors. The effects on tumorigenesis were also analyzed in a xenograft tumor model. ALT markedly reduced the proliferation, migration, and invasion of BCa cells and induced apoptosis. ALT treatment was associated with decreased HSP90AB1 levels in BCa cells and increased low-density lipoprotein receptor-related protein 5 (LRP5) ubiquitination, thereby impairing β-catenin activation. HSP90AB1 overexpression attenuated the anti-cancer effects of ALT, while MSAB repressed the malignant progression of BCa cells promoted by HSP90AB1 overexpression. Forced overexpression of HSP90AB1 enhanced BCa development in vivo, which was mitigated by MSAB. In conclusion, our findings suggest that ALT exerts anti-cancer activity in BCa, potentially through modulation of HSP90AB1 and β-catenin signaling pathways.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"20"},"PeriodicalIF":2.6,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819985","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
Genomic structure and selection history across Angus populations worldwide: insights from ROH, selection mapping, and functional analyses. 全球安格斯种群的基因组结构和选择历史:来自ROH的见解,选择映射和功能分析。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-12-22 DOI: 10.1007/s00335-025-10188-y
Henrique A Mulim, Gabriel S Campos, Fernando F Cardoso, Victor Breno Pedrosa, Kajal Latimer, Lindsay R Upperman, A J Knowles, Andre Garcia, Kelli Retallick, Steve Miller, Hinayah Rojas de Oliveira
{"title":"Genomic structure and selection history across Angus populations worldwide: insights from ROH, selection mapping, and functional analyses.","authors":"Henrique A Mulim, Gabriel S Campos, Fernando F Cardoso, Victor Breno Pedrosa, Kajal Latimer, Lindsay R Upperman, A J Knowles, Andre Garcia, Kelli Retallick, Steve Miller, Hinayah Rojas de Oliveira","doi":"10.1007/s00335-025-10188-y","DOIUrl":"10.1007/s00335-025-10188-y","url":null,"abstract":"<p><p>Angus cattle, originally from Scotland, have been selectively bred for over 400 years, making them one of the most prominent beef breeds globally. Known for their adaptability, natural polled traits, and high-quality beef, Angus cattle have been intensively selected for growth, body size, and feed efficiency. This study investigates the genetic diversity, selection history, and key genomic regions across five Angus populations from the USA, Canada, Australia, Brazil, and Red Angus of America. Genomic data from 71,283 animals born between 1961 and 2024 were analyzed using Principal Component Analysis (PCA), phylogenetic tree construction, and Runs of Homozygosity (ROH), with the Generation Proxy Selection Mapping (GPSM) approach used to assess selection history. Functional annotation identified candidate genes and pathways related to selection. Our analysis revealed both similarities and differences across populations. The PCA and FST metrics showed minimal differentiation between the American, Canadian, Australian, and Brazilian populations, with greater differentiation observed in the Red Angus population. The ROH analysis revealed that the Brazilian population had the highest number of ROHs. The ROH islands identified on BTA8 and BTA13 in the American and Australian populations were linked to traits like body weight, marbling, and tenderness. The GPSM identified significant markers associated with body weight and growth in all populations, reflecting ongoing selection pressures. This study highlights the potential of genomics to improve our understanding of Angus cattle's genetic architecture and selection history. It underscores the feasibility of integrating global populations for more accurate genomic evaluations, enhancing genetic predictions, and supporting sustainable beef production worldwide.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"19"},"PeriodicalIF":2.7,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12722264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810499","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
Long-read whole-genome sequencing of SHR rat substrains with distinct substance use phenotypes. 具有不同物质使用表型的SHR大鼠亚株的长读全基因组测序。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2025-12-22 DOI: 10.1007/s00335-025-10187-z
Adil Abdurahaman, Paige M Lemen, Kathleen M Kantak, Britahny M Baskin, Camron D Bryant, Hao Chen
{"title":"Long-read whole-genome sequencing of SHR rat substrains with distinct substance use phenotypes.","authors":"Adil Abdurahaman, Paige M Lemen, Kathleen M Kantak, Britahny M Baskin, Camron D Bryant, Hao Chen","doi":"10.1007/s00335-025-10187-z","DOIUrl":"10.1007/s00335-025-10187-z","url":null,"abstract":"<p><p>The Spontaneously Hypertensive Rat (SHR) is a widely used model for hypertension and, more recently, for neuropsychiatric disorders such as ADHD and Substance Use Disorder (SUD). Despite a common origin, SHR substrains from different vendors exhibit distinct behavioral phenotypes, particularly in models of SUD. This study characterizes the genomic landscape of two such substrains, SHR/NCrl and SHR/NHsd, using high-fidelity long-read sequencing to identify genetic variants associated with their phenotypic divergence. We identified over 5.8 million variants shared by both substrains compared to the reference genome. These include high-impact variants in genes involved in blood pressure regulation, such as Ramp2 and Npy1r, providing a potential genetic basis for their hypertensive phenotype. We also discovered 17,618 high-confidence variants unique to each substrain. From these, we selected 500 high-quality SNP markers suitable for genetic mapping studies, such as Reduced Complexity Crosses (RCCs). Computational predictions indicated moderate-impact variants in genes involved in neuroplasticity and synaptic function. Notably, the SHR/NHsd substrain carries unique missense variants in Ptpro and Tenm2, genes linked to glutamatergic synapses and SUD-related pathways. In contrast, the SHR/NCrl substrain has unique variants in genes such as Wwc1 and Pcdh10, which are involved in synaptic plasticity and neurotransmission. These findings provide a critical genomic resource for dissecting the heritable components of SUD-related behaviors.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"17"},"PeriodicalIF":2.6,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12722307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145804868","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
Genome-wide SNP evidence for the genetic uniqueness of indigenous cattle population. 本地牛种群遗传独特性的全基因组SNP证据。
IF 2.6 4区 生物学
Mammalian Genome Pub Date : 2025-12-22 DOI: 10.1007/s00335-025-10186-0
Kiyevi G Chishi, Sanjeev Singh, Rangasai Chandra Goli, K K Kanaka, Indrajit Ganguly, S V Kuralkar, Sat Pal Dixit
{"title":"Genome-wide SNP evidence for the genetic uniqueness of indigenous cattle population.","authors":"Kiyevi G Chishi, Sanjeev Singh, Rangasai Chandra Goli, K K Kanaka, Indrajit Ganguly, S V Kuralkar, Sat Pal Dixit","doi":"10.1007/s00335-025-10186-0","DOIUrl":"10.1007/s00335-025-10186-0","url":null,"abstract":"<p><p>India’s non-descript cattle, comprising 52% of the 193.46 million cattle population, are pivotal to the nation’s genetic diversity but contribute only 9.82% to milk production, highlighting a critical need for their genomic characterization so as to utilize this information in conservation and breeding strategies. This study uses the Bovine GGP50K SNP chip to determine the genetic uniqueness, population structure, ancestry proportion, and conservation status of two significant indigenous cattle populations from the Vidarbha region of Maharashtra, Umarda (UM) and Pahadi/Melghati (PAH), which form the foundation of the local subsistence economy. A total of 18 breeds/populations including three taurine breeds were subjected to genomic analysis using Bovine GGP50K SNP chip. Higher heterozygosity (UM: Ho = 0.332, He = 0.417; PAH: Ho = 0.351, He = 0.416) and effective population sizes (UM: Ne = 67; PAH: Ne = 129 at the 13th generation) in these two indigenous cattle populations indicated substantial genetic resilience. Bayesian clustering via ADMIXTURE at K = 10 using 1000 AIMs revealed a distinct UM ancestry component (61.63%), suggestive of historical isolation, while PAH with 39.19% ancestry formed cluster with other indicine breeds, reflecting extensive gene flow. The f₃ statistics indicated admixture in PAH from Brown Swiss and Dangi (f₃ = -0.002647, Z = -3.619), attributed to historical crossbreeding, whereas UM exhibited no admixture, indicating its genetic uniqueness. Local ancestry analysis identified Bos taurus introgression on chromosome (Chr) 13 in UM, with the CBLN4 gene associated with udder morphology, which suggested its adaptation for dairy traits. These findings underscore the genetic distinctiveness of UM and shared ancestry of PAH, advocating for their preservation and targeted breeding to enhance productivity in smallholder systems. This genomic insight aligns with global efforts to safeguard livestock biodiversity, offering a foundation for sustainable cattle improvement in India.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":"18"},"PeriodicalIF":2.6,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145804906","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书