Mammalian Genome最新文献

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Climate resilience in goats: a comprehensive review of the genetic basis for adaptation to varied climatic conditions. 山羊的气候适应能力:对适应不同气候条件的遗传基础的全面审查。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-30 DOI: 10.1007/s00335-024-10101-z
Ram Parsad, Sonika Ahlawat, Meena Bagiyal, Reena Arora, Ritika Gera, Pooja Chhabra, Upasna Sharma, Ajay Singh
{"title":"Climate resilience in goats: a comprehensive review of the genetic basis for adaptation to varied climatic conditions.","authors":"Ram Parsad, Sonika Ahlawat, Meena Bagiyal, Reena Arora, Ritika Gera, Pooja Chhabra, Upasna Sharma, Ajay Singh","doi":"10.1007/s00335-024-10101-z","DOIUrl":"10.1007/s00335-024-10101-z","url":null,"abstract":"<p><p>The sustainability of livestock systems is widely acknowledged to be threatened by climate change on a worldwide scale. There are worries about the effects this phenomenon may have on the productivity and performance of native livestock species due to its influence on environmental stresses, such as the frequency and severity of unfavorable weather occurrences and the ongoing changes in the agro-ecological landscape. Among the most climatically tolerant livestock animals, goats can survive in a range of environments, from deserts to alpine areas. The domestic goat has undergone significant phenotypic changes in terms of shape, behavior, physiological adaptation, reproduction, and production over their evolutionary journey. It will be possible to better understand the genetic mechanisms underlying successful domestication and the practical breeding strategies leading to the improvement in productivity and resilience to environmental challenges by identifying the genes underlying these modifications. This review explores current knowledge on goat adaptation strategies, emphasizing gene expression patterns, epigenetic modifications, and whole-genome selection signatures. It examines how these molecular mechanisms enable goats to endure heat stress, hypoxia, and other environmental challenges. Furthermore, the review highlights the potential of epigenetic markers and selection signatures in developing climate-resilient goat breeds through marker-assisted selection and genome editing, offering actionable insights into sustainable goat production in the context of global climate change.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"151-161"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909941","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
Unraveling the maternal heritage: identifying the complex origins of indigenous Indian horse and pony breeds through mitochondrial genome analysis. 揭示母系遗传:通过线粒体基因组分析确定印度本土马和小马品种的复杂起源。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-04 DOI: 10.1007/s00335-024-10089-6
Sonika Ahlawat, Upasna Sharma, S K Niranjan, Pooja Chhabra, Reena Arora, Rekha Sharma, Karan Veer Singh, R K Vijh, S C Mehta
{"title":"Unraveling the maternal heritage: identifying the complex origins of indigenous Indian horse and pony breeds through mitochondrial genome analysis.","authors":"Sonika Ahlawat, Upasna Sharma, S K Niranjan, Pooja Chhabra, Reena Arora, Rekha Sharma, Karan Veer Singh, R K Vijh, S C Mehta","doi":"10.1007/s00335-024-10089-6","DOIUrl":"10.1007/s00335-024-10089-6","url":null,"abstract":"<p><p>This study explored the maternal genetic diversity of six indigenous Indian horse and pony breeds (Bhutia, Kathiawari, Manipuri, Marwari, Spiti, and Zanskari) using comprehensive mitochondrial genome (mitogenome) analysis. Blood samples from 53 horses across diverse agro-climatic zones of India were analyzed, revealing 36 distinct haplotypes, with a haplotype diversity of 0.889 and nucleotide diversity of 0.00347. These indices suggest significant maternal genetic diversity in Indian equines. A median-joining (MJ) network, based on the hypervariable region of the D-loop along with sequences of Indian equids retrieved from the NCBI, identified 55 haplotypes, including shared haplotypes across 2-5 breeds. Hierarchical AMOVA analysis revealed that 95.20% of genetic variation was within populations, while only 4.80% was among different groups, indicating minimal genetic structuring based on geographic distribution. Phylogenetic analysis of these mitogenomes, alongside global sequences, revealed significant genetic variability without clear geographic clustering, highlighting extensive gene flow and interbreeding across regions. Median-Joining network based on D-loop sequence revealed that Indian horses conform to seven of the 18 globally recognized haplogroups (A, B, G, J, L, M, and P), with haplogroup A being the most frequent. This research contributes to the broader understanding of equine genetic diversity, aligning with global patterns of extensive maternal haplotype diversity, and underscores the intricate genetic backgrounds resulting from historical breeding practices.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"118-128"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770399","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
Genome-wide study for signatures of selection identifies genomic regions and candidate genes associated with milk traits in sheep.
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2025-02-04 DOI: 10.1007/s00335-025-10107-1
Fatemeh Ebrahimi, Mohsen Gholizadeh, Hamid Sahebalam
{"title":"Genome-wide study for signatures of selection identifies genomic regions and candidate genes associated with milk traits in sheep.","authors":"Fatemeh Ebrahimi, Mohsen Gholizadeh, Hamid Sahebalam","doi":"10.1007/s00335-025-10107-1","DOIUrl":"10.1007/s00335-025-10107-1","url":null,"abstract":"<p><p>Milk production traits in sheep are influenced by complex genetic factors, and understanding these traits requires the identification of candidate genes under selection. This study employed two methods, FST and XP-EHH, to identify selection signatures and candidate genes associated with milk production traits in sheep. For this purpose, 9 different breeds from the Sheep HapMap dataset generated by the International Sheep Genomics Consortium (ISGC) based on analysis of the Ovine SNP50 BeadChip were used. The dairy breeds included Brown East Friesian (n = 39), Milk Lacaune (n = 103), Chios (n = 23), Churra (n = 120), and Comisana (n = 24), while the non-dairy breeds included Afshari (n = 37), Moghani (n = 34), Galway (n = 49), and Australian Suffolk (n = 109). Genomic regions in the top 0.1 percentile of FST values revealed 71 genes, while regions with the highest positive XP-EHH values identified 69 genes. Five overlapping genes-DHRS3, TNFRSF1B, AADACL4, ARHGEF11, and LRRC71-were detected by both methods, highlighting their relevance to milk production. Several candidate genes in regions identified from FST, such as PER2, SH3PXD2A, TMEM117, DDX6, PDCD11, CALHM2, and CALHM3, have been previously associated with milk production traits. Notably, CRABP2, PEAR1, PGM1, ALG6, COX15, and OAT were identified in regions with high XP-EHH values in the dairy group. Gene ontology analysis indicated that the identified genes are enriched in pathways related to chemokine receptor activity, gap junction channel activity, and gap junction-mediated intercellular transport, as well as cellular components like the connexin complex. Further studies on these genes may improve understanding of the genetic architecture of milk production traits in sheep.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"140-150"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189822","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
Comprehensive analysis reveals the prognostic and immunological role of PSMD13 in hepatocellular carcinoma. 综合分析揭示PSMD13在肝细胞癌中的预后和免疫学作用。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-30 DOI: 10.1007/s00335-024-10097-6
Yun Li, Honghui Liu, Na Liu, Lin Chen, Ruijie Liu
{"title":"Comprehensive analysis reveals the prognostic and immunological role of PSMD13 in hepatocellular carcinoma.","authors":"Yun Li, Honghui Liu, Na Liu, Lin Chen, Ruijie Liu","doi":"10.1007/s00335-024-10097-6","DOIUrl":"10.1007/s00335-024-10097-6","url":null,"abstract":"<p><p>Immune cell infiltration in liver hepatocellular carcinoma (LIHC) is promising for immunotherapy. However, effective predictive markers to accurately predict a tumour's immune status are lacking. PSMD13, a native component of the 26 S proteasome subunit involved in intracellular metabolism, has an unclear association with cancer and immunity. Using bioinformatics analysis of data from the TCGA, we investigated the expression patterns, prognostic values, gene functions, and tumour immune relationships of PSMD13 in LIHC. We developed a prognostic model that incorporates PSMD13 for LIHC and validated the biological functions of PSMD13 in LIHC cells. Furthermore, we analysed the associations between PSMD13 expression and the tumour immune markers CD206 and CD8 in 101 paired liver tissues using immunohistochemistry. PSMD13 was upregulated in LIHC and served as a prognostic biomarker of LIHC. The knockdown of PMSD13 significantly affected the proliferation, migration, and colony formation of LIHC cells. PSMD13 was closely associated with the infiltration of M2 macrophages and the expression of various tumour immune checkpoints. Our study revealed that PSMD13 is a crucial component contributing to the malignant behaviour of LIHC, indicating its essential role in both the prognosis and potential immune microenvironment profile of LIHC.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"317-330"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909959","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
EEF1A2 identified as a hub gene associated with the severity of metabolic dysfunction-associated steatotic liver disease. EEF1A2 被确定为与代谢功能障碍相关性脂肪肝严重程度有关的枢纽基因。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-10-16 DOI: 10.1007/s00335-024-10078-9
Jian Zhang, Huiwen Wang, Qianbing Wang, Juan Mo, Lei Fu, Shifang Peng
{"title":"EEF1A2 identified as a hub gene associated with the severity of metabolic dysfunction-associated steatotic liver disease.","authors":"Jian Zhang, Huiwen Wang, Qianbing Wang, Juan Mo, Lei Fu, Shifang Peng","doi":"10.1007/s00335-024-10078-9","DOIUrl":"10.1007/s00335-024-10078-9","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a prevalent chronic liver disease that ranges from metabolic dysfunction-associated steatotic liver (MASL) to metabolic dysfunction-associated steatohepatitis (MASH), and may eventually progress to cirrhosis and hepatocellular carcinoma (HCC). The underlying mechanism of MASLD remains incompletely understood. This study aimed to identify key gene implicated in MASLD pathogenesis and validate its correlation with disease severity through an integration of bioinformatics and experimental approaches. Liver transcriptome data from MASLD patients were obtained from the Gene Expression Omnibus (GEO) database. A diet-induced MASLD mouse model was developed, and liver RNA-sequencing was performed. Liver specimens and clinical data from patients were collected for further analysis. A total of 120 differentially expressed genes (DEGs) were shared between datasets GSE89632 and GSE213621, with functional enrichment in inflammatory, metabolic, and cell cycle-related pathways. Protein-protein interaction (PPI) network analysis identified three modules associated with MASLD, with the cell cycle-related module being the most notable. EEF1A2 was identified as a novel hub gene and revealed to be elevated with MASLD progression through dataset analysis. EEF1A2 was confirmed to be highly expressed in the livers of both MASLD mouse models and patients. Moreover, the increased expression of EEF1A2 in MASH was positively correlated with higher serum alanine aminotransferase (ALT), alanine aminotransferase (AST), total cholesterol (TC), and body mass index (BMI). In conclusion, EEF1A2 is a novel hub gene significantly associated with MASLD severity and is a promising biomarker and therapeutic target for MASLD.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"93-105"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142469174","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
Pan-cancer TCGA analysis reveals the potential involvement of B-type lamins in dysregulating chromosome segregation in human cancer. 泛癌症 TCGA 分析揭示了 B 型薄片蛋白可能参与人类癌症染色体分离失调。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-11-27 DOI: 10.1007/s00335-024-10086-9
Subhadip Kundu, Bimal Prasad Jit, Ashok Sharma
{"title":"Pan-cancer TCGA analysis reveals the potential involvement of B-type lamins in dysregulating chromosome segregation in human cancer.","authors":"Subhadip Kundu, Bimal Prasad Jit, Ashok Sharma","doi":"10.1007/s00335-024-10086-9","DOIUrl":"10.1007/s00335-024-10086-9","url":null,"abstract":"<p><p>Lamins play a crucial role in maintaining nuclear structure and function. Our study investigates the expression patterns and clinical implications of B-type lamins with a special focus on lamin B2 across various cancer types using comprehensive RNA sequencing datasets. We found that high expression levels of lamin B1 and lamin B2 are associated with decreased overall and disease-free survival in cancer. This association is further pronounced when both lamins are co-expressed, indicating a compounded negative impact on patient prognosis. Additionally, we highlighted the relationship between B-type lamins and the tumor microenvironment. Lamin B1 mRNA expression shows a strong positive correlation with activated CD4<sup>+</sup> T-cells and type 2 T-helper cells (Th2), suggesting its role in immune cell infiltration and response within tumors. Lamin B2 expression also correlates moderately with these immune cells, indicating a potential but lesser role in modulating the immune landscape. Notably, the epigenetic state of lamin B1 significantly affects the tumor microenvironment, suggesting a dual role in structural integrity and immune modulation. We have identified 9 lamin B2 interacting proteins that are co-expressed with B-type lamins in cancerous conditions and modulate cytokinesis and cell division pathways during tumorigenesis. Furthermore, we have identified specific molecular targets of B-type lamins that co-express with them in a range of human cancers and are potentially involved in dysregulating chromosome segregation and mRNA binding. Overexpression of these targets alongside B-type lamins correlates with poor prognosis in multiple cancers. These findings underscore the potential of B-type lamins as biomarkers for poor prognosis and as targets for cancer therapies.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"230-249"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729978","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 of novel biomarkers for atherosclerosis using single-cell RNA sequencing and machine learning. 利用单细胞 RNA 测序和机器学习鉴定动脉粥样硬化的新型生物标记物。
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-10-14 DOI: 10.1007/s00335-024-10077-w
Xi Yong, Tengyao Kang, Mingzhu Li, Sixuan Li, Xiang Yan, Jiuxin Li, Jie Lin, Bo Lu, Jianghua Zheng, Zhengmin Xu, Qin Yang, Jingdong Li
{"title":"Identification of novel biomarkers for atherosclerosis using single-cell RNA sequencing and machine learning.","authors":"Xi Yong, Tengyao Kang, Mingzhu Li, Sixuan Li, Xiang Yan, Jiuxin Li, Jie Lin, Bo Lu, Jianghua Zheng, Zhengmin Xu, Qin Yang, Jingdong Li","doi":"10.1007/s00335-024-10077-w","DOIUrl":"10.1007/s00335-024-10077-w","url":null,"abstract":"<p><p>Atherosclerosis (AS) is a predominant etiological factor in numerous cardiovascular diseases, with its associated complications such as myocardial infarction and stroke serving as major contributors to worldwide mortality rates. Here, we devised dependable AS-related biomarkers through the utilization of single-cell RNA sequencing, weighted co-expression network (WGCNA), and differential expression analysis. Furthermore, we employed various machine learning techniques (LASSO and SVM-RFE) to enhance the identification of AS biomarkers, subsequently validating them using the GEO dataset. Following this, CIBERSORT was employed to investigate the correlation between biomarkers and infiltrating immune cells. Consequently, 256 differentially expressed genes (DEGs) were selected in samples of AS and normal. GO and KEGG analyses indicated that these DEGs may be related to the negative regulation of leukocyte-mediated immunity, leukocyte cell-cell adhesion, and immune system processes. Notably, C1QC and COL1A1 were pinpointed as potential diagnostic markers for AS, a finding that was further validated in the GSE21545 dataset. Moreover, the area under the curve (AUC) values for these markers exceeded 0.8, underscoring their diagnostic utility. Analysis of immune cell infiltration revealed that the expression of C1QC was correlated with M0 macrophages, gamma delta T cells, activated mast cells and memory B cells. Similarly, COL1A1 expression was linked to M0 macrophages, memory B cells, activated mast cells, gamma delta T cells, and CD4 native T cells. Finally, these results were validated using mice and human samples through immunofluorescence, immunohistochemistry, and ELISA analysis. Overall, C1QC and COL1A1 would be potential biomarkers for AS diagnosis, and that would provides novel perspectives on the diagnosis and treatment of AS.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"183-199"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142469175","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
New mouse model for inducible hACE2 expression enables to dissect SARS-CoV-2 pathology beyond the respiratory system.
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-02-22 DOI: 10.1007/s00335-025-10115-1
Federica Gambini, Dominik Arbon, Petr Nickl, Vaclav Zatecka, Olha Fedosieieva, Juraj Labaj, Vendula Novosadova, Jana Trylcova, Jan Weber, Jan Prochazka, Jana Balounova, Radislav Sedlacek
{"title":"New mouse model for inducible hACE2 expression enables to dissect SARS-CoV-2 pathology beyond the respiratory system.","authors":"Federica Gambini, Dominik Arbon, Petr Nickl, Vaclav Zatecka, Olha Fedosieieva, Juraj Labaj, Vendula Novosadova, Jana Trylcova, Jan Weber, Jan Prochazka, Jana Balounova, Radislav Sedlacek","doi":"10.1007/s00335-025-10115-1","DOIUrl":"https://doi.org/10.1007/s00335-025-10115-1","url":null,"abstract":"<p><p>The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) infection is not limited to the respiratory tract as receptors, including the angiotensin-converting enzyme 2 (ACE2), are expressed across many tissues. This study employed a new conditional mouse model, Rosa26<sup>creERT2/chACE2</sup>, which expresses human ACE2 (hACE2) across multiple organs, to investigate the effects of SARS-CoV-2 infection beyond the respiratory system. This strain demonstrated susceptibility to SARS-CoV-2 infection in a dose and sex-dependent manner, showing that infected male mice exhibited more severe disease outcomes, including significant weight loss, pronounced lung pathology and dysfunction, and increased mortality, compared to females. In contrast to intratracheal infection, intranasal virus administration facilitated viral spread to the brain, thereby underscoring the nasal route's role in the pathogenesis of neurological manifestations. Intranasal infection also led to increased innate immune system activation as compared to intratracheal virus administration, even though both routes activated the adaptive immune response. This model provides a valuable tool to study SARS-CoV-2 in individual tissues or use a multisystemic approach, and it also advances possibilities for preclinical evaluation of antiviral therapies and vaccine strategies.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476835","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
Genome-wide insights into selection signatures for transcription factor binding sites in cattle ROH regions.
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-02-21 DOI: 10.1007/s00335-025-10113-3
Sonali Sonejita Nayak, Manjit Panigrahi, Triveni Dutt
{"title":"Genome-wide insights into selection signatures for transcription factor binding sites in cattle ROH regions.","authors":"Sonali Sonejita Nayak, Manjit Panigrahi, Triveni Dutt","doi":"10.1007/s00335-025-10113-3","DOIUrl":"https://doi.org/10.1007/s00335-025-10113-3","url":null,"abstract":"<p><p>Runs of Homozygosity (ROH) regions are characterized by homozygous genotypes inherited from a common ancestor, often arising from positive selection for adaptive traits. These homozygous regions may arise due to inbreeding, selective breeding, or demographic events like population bottlenecks. Transcription factor binding sites (TFBS) are short, specific DNA sequences where transcription factors bind to regulate the expression of nearby genes. These sites are essential for controlling biological processes such as development, metabolism, and immune response. TFBS act as key regulatory elements, and their variations can influence gene activity, contributing to phenotypic differences and adaptation. ROH often encompass regulatory elements, including TFBS, suggesting a functional connection between these genomic features. This study investigates TFBS within ROH regions in 297 animals of six cattle breeds: Gir (48), Tharparkar (72), Vrindavani (72), Frieswal (14), Holstein Friesian (63), and Jersey (28). Utilizing genotyped data of these animals, we identified genomic regions enriched with ROH. We focused on the central 10 kb regions of 50 ROH regions common across all breeds. Within these regions, 450 motifs were examined, identifying 168 transcription factors potentially binding to these regions. The results emphasize the role of TFBS in gene regulation and adaptive processes. By linking ROH patterns to regulatory elements, this study enhances our understanding of the genetic architecture underlying phenotypic traits and their adaptation to environmental pressures. These findings provide insights into the molecular mechanisms influencing genetic variation in cattle populations.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472632","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 of biomarkers associated with phagocytosis regulatory factors in coronary artery disease using machine learning and network analysis.
IF 2.7 4区 生物学
Mammalian Genome Pub Date : 2025-02-14 DOI: 10.1007/s00335-025-10111-5
Runan Jia, Zhiya Li, Yingying Du, Huixian Liu, Ruirui Liang
{"title":"Identification of biomarkers associated with phagocytosis regulatory factors in coronary artery disease using machine learning and network analysis.","authors":"Runan Jia, Zhiya Li, Yingying Du, Huixian Liu, Ruirui Liang","doi":"10.1007/s00335-025-10111-5","DOIUrl":"https://doi.org/10.1007/s00335-025-10111-5","url":null,"abstract":"<p><strong>Background: </strong>Coronary artery disease (CAD) is the leading cause of death worldwide, and aberrant phagocytosis may be involved in its development. Understanding this aspect may provide new avenues for prompt CAD diagnosis.</p><p><strong>Methods: </strong>CAD-related information was obtained from Gene Expression Omnibus datasets GSE66360, GSE113079, and GSE59421. We identified 995 upregulated and 1086 downregulated differentially expressed genes (DEGs) in GSE66360. Weighted gene co-expression network analysis revealed a module of 503 genes relevant to CAD. Using clusterProfiler, we revealed 32 CAD-related PRFs. Eight candidate genes were identified in a protein-protein interaction network. Machine learning algorithms identified CAD biomarkers that underwent gene set enrichment analysis, immune cell analysis with CIBERSORT, microRNA (miRNA) prediction using the miRWalk database, transcription factor (TF) level predication through ChEA3, and drug prediction with DGIdb. Cytoscape visualized the miRNA -mRNA- TF, miRNA-single nucleotide polymorphism-mRNA, and biomarker-drug networks.</p><p><strong>Results: </strong>IL1B, TLR2, FCGR2A, SYK, FCER1G, and HCK were identified as CAD biomarkers. The area under the curve of a diagnostic model based on the six biomarkers was > 0.7 for the GSE66360 and GSE113079 datasets. Gene set enrichment analysis revealed differences in their biological pathways. CIBERSORT revealed that 10 immune cell types were differentially expressed between the CAD and control groups. The TF-mRNA-miRNA network showed that has-miR-1207-5p regulates HCK and FCER1G expression and that RUNX1 and SPI may be important TFs. Ninety-five drugs were predicted, including aspirin, which influenced ILIB and FCERIG.</p><p><strong>Conclusion: </strong>In this study, six biomarkers (IL1B, TLR2, FCGR2A, SYK, FCER1G, and HCK) related to CAD phagocytic regulatory factors were identified, and their expression regulatory relationships in CAD were further studied, providing a deeper understanding of the pathogenesis, diagnosis, and potential treatment strategies of CAD.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425822","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
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