MAMMALIAN GENOME哺乳动物基因组
MAMMALIAN GENOME(英文缩写 MAMM GENOME),ISSN 0938-8990,eISSN 1432-1777,中文译名:哺乳动物基因组 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-10-01 至 2026-09-30，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 3.224 | Q3 |
| 2022 | 2.500 | Q3 |
| 2023 | 2.700 | Q2 |
| 2024 | 2.700 | Q2 |
| 2025 | 2.600 | Q2 |
MAMMALIAN GENOME 最新收录文献
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1. Development and validation of a high density SNP array for indigenous Indian pigs.
PMID:日期:2026-09-29The present study describes the design and development of a high density SNP array for indigenous Indian pigs. Using whole-genome resequencing of eight populations, over 61 million variants were discovered and filtered to produce a final panel of 635,974 high quality bi-allelic SNPs with genome-wide coverage. The technical performance of the customized array was validated by genotyping 96 samples from a diverse set of porcine breeds. The genotyping results identified 553,289 markers as Poly High Resolution, while only 0.819% were Mono High Resolution. Average call rate was 99.636% and 91.121% or 579,504 markers were best and recommended. The array effectively captured population-level diversity and resolved genetic structure among Indian pigs. An in silico evaluation using SNPs of the customized array extracted from whole genome sequences distinguished both indigenous and global pig breeds. The developed customized high density SNP array offers substantial opportunities for advancing pig genomics in India. It provides a powerful platform with improved precision for population genetics and admixture analysis in porcine populations.
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2. Integrative bioinformatics and machine learning reveal hub genes and immune signatures bridging type 2 diabetes mellitus, fracture susceptibility, and osteoblast differentiation dysfunction.
2. 整合生物信息学与机器学习揭示桥接2型糖尿病、骨折易感性与成骨细胞分化功能障碍的核心基因及免疫特征PMID:日期:2026-09-24To investigate the causal relationship between type 2 diabetes mellitus (T2DM) and fracture and identify molecular targets linking T2DM to impaired osteogenesis, we performed two-sample Mendelian randomization (MR) using large-scale GWAS data, followed by integrated bioinformatic and machine learning analyses of T2DM-, fracture-, and osteoblast differentiation-related datasets. Hub genes were identified through WGCNA, differential expression analysis, PPI network analysis, and multiple machine learning algorithms, and further evaluated by GSEA, cross-dataset validation, and immune cell infiltration analysis. In vitro validation was performed in MC3T3-E1 preosteoblasts cultured under normal-glucose, high-glucose, and osmotic-control conditions using Alizarin Red S staining, qRT-PCR, and Western blotting. MR analysis confirmed a positive causal effect of T2DM on fracture risk without evidence of horizontal pleiotropy. A total of 280 overlapping genes were identified, mainly enriched in extracellular matrix organization, ossification, bone remodeling, osteogenic differentiation, and pathways related to the cell cycle and AGE-RAGE signaling. PLK1, CCNA2, and CHEK1 were identified as hub genes and were associated with cell cycle regulation. Cross-dataset validation confirmed their upregulation in T2DM patients, while immune infiltration analysis indicated a predominance of neutrophils. High-glucose exposure markedly impaired osteogenic mineralization in MC3T3-E1 cells and dysregulated PLK1, CCNA2, and CHEK1 expression at both the mRNA and protein levels. Collectively, T2DM may increase fracture risk and impair bone regeneration through dysregulated cell cycle and AGE-RAGE signaling, with PLK1, CCNA2, and CHEK1 representing potential therapeutic targets.
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3. USP38 promotes breast cancer immune evasion and malignant progression by deubiquitinating and stabilizing PD-L1.
3. USP38通过去泛素化并稳定PD-L1促进乳腺癌免疫逃逸和恶性进展PMID:日期:2026-09-18Breast cancer (BC) represents the most common malignancy among women worldwide. Immune evasion serves as a critical factor for treatment resistance and recurrence metastasis. For USP38, a member within deubiquitinating enzyme family, its expression pattern, biological function, and regulatory mechanism on tumor immune microenvironment in BC lacked systematic investigation. TIMER and UALCAN databases were used to analyze USP38 expression profile. Forty pairs BC tissue and cell lines were collected for validation. Knockdown/overexpression models were constructed. CCK-8, Transwell, co-immunoprecipitation, ubiquitination analysis, CD8 + T cell co-culture, and in vivo tumor‑bearing experiments were employed to explore function and mechanism. USP38 was highly expressed in BC tissues and cells. USP38 knockdown inhibited proliferation, migration, and invasion. Mechanistically, USP38 directly bound PD-L1 and removed its ubiquitination modification, enhancing PD-L1 stability. USP38 knockdown activated CD8 + T cell function, promoted IFN-γ and granzyme B secretion, and enhanced anti-tumor immunity. In vivo USP38 knockdown suppressed tumor growth, whereas PD-L1 overexpression reversed this effect. USP38 stabilizes PD-L1 through deubiquitination, inhibits CD8 + T cell-mediated anti-tumor immunity, and promotes immune evasion and malignant progression in BC.
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4. The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.
PMID:日期:2026-09-18Mitochondria are essential organelles responsible for cellular energy production and the regulation of key metabolic and signalling pathways. Their function depends on the coordinated expression of both mitochondrial and nuclear genomes, and mitochondrial dysfunction leads to a diverse group of mitochondrial diseases. The nervous system is particularly vulnerable to mitochondrial dysfunction due to the high energetic demands and complex morphology of neurons. Neurons rely heavily on mitochondrial ATP production to support processes such as synaptic transmission, axonal transport, and calcium homeostasis, which are tightly regulated by mitochondrial dynamics, intracellular trafficking, and quality control mechanisms. In mitochondrial diseases, impairment of these processes contributes to a range of neurological manifestations, including epilepsy, stroke-like episodes, Leigh syndrome, ataxia, and peripheral neuropathy. Despite the ubiquitous presence of mitochondria, neuronal vulnerability varies between distinct neuronal populations, reflecting differences in neuronal morphology and metabolic demands. This review summarises key mechanisms underlying neuronal susceptibility in mitochondrial disease and highlights how defects in mitochondrial bioenergetics, dynamics, and transport contribute to characteristic neurological phenotypes. Understanding these mechanisms may provide insights into tissue-specific vulnerability and identify potential therapeutic targets to treat mitochondrial diseases and other neurodegenerative disorders associated with mitochondrial mechanisms.
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5. Genomic analysis of breed composition and population structure in Montana composite cattle.
PMID:日期:2026-09-07The Montana composite was developed in Brazil from crosses between Bos indicus and Bos taurus and structured into four biological types: Zebu (N), adapted taurine (A), British taurine (B), and continental taurine (C). This study aimed to characterize the genetic diversity and population structure of the Montana composite using genomic data through principal component analysis (PCA), admixture analysis, and Wright's F statistic. The PCA revealed a clear separation between Bos indicus and Bos taurus groups, with Montana animals distributed in an intermediate position. The first two principal components explained 69.48% and 3.45% of the total variation, respectively. Supervised admixture estimates indicated a predominance of taurine contribution, with type A accounting for 34.47%, 52.64%, and 51.71% at K = 4, 9, and 11, respectively. Increasing the ancestry resolution refined the contribution of individual founder breeds without changing the overall predominance of taurine ancestry. Comparisons between breed proportions obtained from pedigree and genomic data revealed significant differences, for most biological types and ancestry models (P < 0.001), indicating that realized breed composition deviates from theoretical expectations. Estimates of genetic differentiation confirmed greater divergence between Zebu and taurine groups, as well as reduced distances among populations sharing common ancestry. Specific relationships were identified between the composite and some of its founder breeds, particularly Belmont Red, Senepol, and Tuli. Overall, the results demonstrate that the Montana composite has a complex genomic structure, with genomic ancestry varying according to the resolution adopted and differing from pedigree-based expectations.
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6. Metabolic convergence of diabetes and prostate cancer: from dysglycemia to tumor microenvironment reprogramming.
PMID:日期:2026-09-05The relationship between diabetes mellitus and prostate cancer (PC) represents one of the most intriguing paradoxes in cancer epidemiology, with diabetic individuals exhibiting a reduced incidence of PC yet poorer prognosis following diagnosis. This apparent contradiction underscores the need for an integrated understanding of how systemic metabolic dysfunction influences prostate carcinogenesis and disease progression. The present review critically synthesizes contemporary epidemiological, mechanistic, and translational evidence to establish metabolic convergence as a unifying framework linking diabetes-associated metabolic abnormalities with PC biology. Current evidence indicates that chronic dysglycemia, hyperinsulinemia, insulin resistance, and endocrine perturbations orchestrate interconnected intracellular signaling networks involving PI3K-AKT-mTOR, AMPK, AGE-RAGE signaling, oxidative stress, mitochondrial dysfunction, and epigenetic reprogramming, collectively driving metabolic adaptation and tumor evolution. Beyond tumor-intrinsic mechanisms, diabetes profoundly remodels the prostate tumor microenvironment through alterations in stromal metabolism, cancer-associated fibroblast activation, adipocyte-tumor crosstalk, extracellular matrix (ECM) remodeling, hypoxic adaptation, and vascular dysfunction, while simultaneously promoting immunometabolic reprogramming characterized by macrophage polarization, T-cell dysfunction, immune checkpoint activation, and immune evasion. The review further examines the bidirectional interactions between antidiabetic therapies and PC treatment, critically evaluating the translational potential of metformin and emerging glucose-lowering agents within the context of precision metabolic therapeutics. Finally, future directions encompassing biomarker-guided patient stratification, longitudinal metabolic profiling, multi-omics integration, artificial intelligence, and clinically relevant mechanistic validation are discussed as essential components of next-generation precision oncology. Collectively, this review reframes diabetes as an active metabolic determinant of PC rather than a coincidental comorbidity and highlights metabolism-centered precision strategies as promising avenues for improving risk stratification, therapeutic decision-making, and clinical outcomes in diabetes-associated PC.
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7. Generation of miR-141/200c conditional knockout mice from knockout-first, reporter-tagged parent and functional validation of the floxed allele.
PMID:日期:2026-09-03MicroRNAs (miRNAs) of the miR-200 family-specifically miR-141 and miR-200c-regulate neurogenesis, differentiation, and epithelial-mesenchymal transitions in development. Dysregulation of these miRNAs is associated with several diseases including cancer and stroke. The Mirc13tm1Mtm/Mmjax mouse line, which targets the miR-141/200c cluster, was originally generated and described by Park et al. 2012 as a knockout-first, reporter-tagged insertion with conditional potential (conditional-ready) mouse line. Harnessing its full potential requires a two-step breeding process: breeding with FLP mice to excise the lacZ/neo cassette, then breeding with Cre to delete the floxed miRNA cluster (Park et al. 2012). However, many studies either bypassed removal of the lacZ/Neo cassettes and treated the mouse line as Mirc13 knockouts or bred directly with Cre mouse lines, which could lead to unpredictable recombination and genotypes. Here we show that retention of the lacZ/Neo cassette is associated with reduced expression of the neighboring genes Ptpn6, Phb2 and Atn1 in the olfactory bulb, and that these genes are expressed normally once the cassette is excised. We therefore recommend a validated two-step FLPo-then-Cre breeding plan for this line, together with case-by-case allele validation for other knockout-first, reporter-tagged mouse lines.
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8. Machine learning identifies ac4C-related prognostic signature and TUBA1C as therapeutic target in COAD.
8. 机器学习识别ac4C相关的预后特征和TUBA1C作为COAD的治疗靶点PMID:日期:2026-09-03To explore the role of N4-acetylcytidine (ac4C)-related genes (acRGs) in colon adenocarcinoma (COAD) and identify reliable prognostic biomarkers and potential therapeutic targets. Multi-source transcriptomic datasets (TCGA-COAD, GSE39582, GSE17536) and single-cell RNA-seq data were analyzed. Ten machine learning algorithms were integrated to construct an acRG-based prognostic signature (acRGBS). Immune microenvironment (TME) and genomic profiling were performed, with in vitro functional experiments validating TUBA1C's role. acRGBS, comprising four hub genes (SARAF, CDC42SE2, TSPYL2, TUBA1C), effectively stratified COAD patients into high- and low-risk groups with distinct survival outcomes and was an independent prognostic factor. High-risk patients exhibited increased genomic instability and immunosuppressive TME, while low-risk patients had favorable immunotherapy response. TUBA1C was overexpressed in COAD cells, and its knockdown inhibited proliferation/migration and induced apoptosis. The acRGBS is a robust prognostic tool for COAD, and TUBA1C serves as a candidate therapeutic target, providing new insights for personalized COAD management.
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9. Identification of a metastasis-associated prognostic gene signature in osteosarcoma through integrated bioinformatics and functional analysis.
PMID:日期:2026-09-01Osteosarcoma is a highly aggressive bone malignancy with a strong tendency for metastasis and poor clinical outcomes. The molecular mechanisms driving osteosarcoma progression and metastasis remain incompletely understood, highlighting the need to identify robust biomarkers and therapeutic targets. Weighted gene co-expression network analysis (WGCNA) was performed using osteosarcoma datasets from the Gene Expression Omnibus to identify metastasis-associated gene modules and hub genes. Expression, methylation, mutation, immune infiltration, and drug sensitivity analyses were conducted using multiple public databases, including TCGA, GSCA, UALCAN, and cBioPortal. A prognostic model was developed using the TARGET osteosarcoma cohort and validated in an independent GEO dataset. Functional roles of hub genes were investigated through loss- and gain-of-function experiments in sarcoma cell lines using RT-qPCR, Western blotting, proliferation, colony formation, wound-healing, and luciferase reporter assays. Four hub genes, AURKB, CDC20, KIF11, and TOP2A, were identified as strongly associated with metastasis. These genes were significantly upregulated in sarcoma tissues and cell lines and demonstrated excellent diagnostic performance. Promoter hypomethylation and frequent genomic alterations contributed to their aberrant expression. High expression of the hub genes was associated with poor overall survival, and a four-gene prognostic model showed strong predictive performance in both training and validation cohorts. Functional assays confirmed that these genes promote sarcoma cell proliferation and migration, while miRNA-mediated regulation and drug resistance associations further highlighted their biological relevance. This integrated computational and experimental study identifies AURKB, CDC20, KIF11, and TOP2A as key oncogenic drivers in osteosarcoma, with significant diagnostic, prognostic, and therapeutic implications.
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10. Tracing the genetic legacy of Malabari goats through complete mitogenome sequencing: evidence of maritime exchange via the historic spice route.
PMID:日期:2026-09-01The Malabari goat of South India is one of the most efficient dual-purpose breeds, exhibiting exceptional adaptability to humid tropical stressors. This study aimed to characterize the complete mitochondrial genome of Malabari goats and to decipher their maternal phylogenetic relationships, thereby providing insights into lineage divergence, domestication origins and genetic connectivity with global caprine populations. Whole-genome sequencing of pooled DNA from 20 unrelated Malabari goats revealed a complete mitogenome comprising 37 genes, including 22 transfer RNAs (tRNAs), 13 protein-coding genes (PCGs) and two ribosomal RNAs (rRNAs), in addition to a hypervariable non-coding displacement loop (D-loop) region. A total of 45 single nucleotide polymorphisms (SNPs) and two indels were identified, of which 21 SNPs were detected in PCGs-six of them non-synonymous. Importantly, we report the first tRNA mutation described in goats: a novel heteroplasmic substitution (11693 T>C) in the MT-TL2 gene coding for tRNACUN. The mitochondrial genome analysis of Malabari goats revealed their closest genetic affinity with Iraqi Meriz goats and Arabian goat populations, highlighting significant maternal contributions via ancient maritime trade networks, distinct from most Indian breeds that predominantly belong to haplogroup A. The whole mitogenome phylogenetic analysis revealed that Malabari goats cluster in a monophyletic group together with local goats from Vietnam, domestic goats from Malaysia and domestic goats from Russia. Phylogenetic reconstruction based on mitochondrial D-loop placed Malabari goats within haplogroup B1 along with goats from Iraq, Oman and Gujarat in India. Mitogenome analysis of Malabari goats provides genetic evidence of their genetic roots shaped by maritime exchanges along the ancient Spice Route.