Mammalian Genome最新文献

{"title":"Assessment of genome-wide genetic variability and population divergence of four native Turkish sheep breeds.","authors":"Bahar Argun Karslı, Eymen Demir, Umit Bilginer, Taki Karslı, Sarp Kaya, Huriye Doğru, Irmak Kara, Veli Atmaca, Duygu Kaşıkçı, Serdar Koçak, Serdar Yağcı, Murat Soner Balcıoğlu, Emiliano Lasagna, Fetih Gülyüz","doi":"10.1007/s00335-026-10213-8","DOIUrl":"10.1007/s00335-026-10213-8","url":null,"abstract":"<p><p>Genetic variability is crucial for enhancing economically important traits and for developing effective conservation strategies in livestock populations. In this study, genome-wide genetic variability and population divergence were evaluated in four native Turkish sheep breeds, known as Dağlıç (DGL), Sakız (SKZ), Pırlak (PRL), and Pırıt (PRT), using 366,544 single nucleotide polymorphisms (SNPs) generated by double-digest restriction-site associated DNA sequencing (ddRADseq). Across the four populations, the mean minor allele frequency (MAF) and nucleotide diversity (π) were estimated at 0.320 and 0.295, respectively. Observed heterozygosity (H_O) ranged from 0.314 in the DGL breed to 0.323 in the SKZ breed. Expected heterozygosity (H_E) values were consistently higher than the observed values across all breeds, with an overall mean of 0.327. The inbreeding coefficient (F_IS) was negative in all populations, varying from - 0.034 in PRL to - 0.019 in DGL. Population structure analyses based on discriminant analysis of principal components (DAPC), ADMIXTURE, and TreeMix revealed a high level of admixture between the PRL and PRT populations, whereas the DGL breed was genetically distinct. In addition, TreeMix inferred a migration edge from the SKZ breed to the PRL-PRT clade. The high level of genetic variability observed in native Anatolian sheep breeds should be conserved to support diverse breeding strategies and to mitigate potential future challenges, particularly genetic bottlenecks. Further studies employing improved sampling strategies are recommended to obtain more robust insights into the genetic structure of native Anatolian sheep, especially for the PRL and PRT populations.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623279","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}

{"title":"Tissue-specific transcriptional epistasis between Prkn and Lrrk2 during mycobacterial infection.","authors":"Monica Dallmann-Sauer, Yong Zhong Xu, Wilian Correa-Macedo, Marianna Orlova, Erwin Schurr","doi":"10.1007/s00335-026-10219-2","DOIUrl":"10.1007/s00335-026-10219-2","url":null,"abstract":"<p><p>PRKN (PARK2) and LRRK2 are susceptibility genes for Parkinson’s disease that also exert pleiotropic effects in inflammatory and mycobacterial diseases. Although each gene individually regulates innate immune pathways, their combined in vivo interaction during infection remains undefined. We hypothesized that Prkn and Lrrk2 exhibit systems-level epistasis in shaping host transcriptional responses to mycobacterial challenge. To test this, we analyzed single and double knockout mice to define baseline and infection-induced transcriptional programs following bacille Calmette-Guérin (BCG) infection. Lung and spleen tissues were assessed for bacterial burden and genome-wide gene expression. In the lung, deletion of Prkn and Lrrk2 affected overlapping immune pathways, and double knockout mice displayed non-additive modulation of infection-induced transcriptional networks, consistent with systems-level epistasis. In contrast, splenic responses were dominated by Lrrk2 deletion, indicating tissue-dependent genetic interaction. To determine whether these transcriptional effects extended to virulent mycobacteria, we examined Lrrk2-dependent responses during aerosol infection with Mycobacterium tuberculosis, revealing context-dependent pathway activation distinct from the BCG model. These findings demonstrate tissue- and pathogen-specific epistasis between Prkn and Lrrk2 at the level of host transcriptional network organization. Our results establish these genes as interacting regulators of antimycobacterial immune programs and provide a systems-genetic framework linking neurodegeneration-associated loci to host defense.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593080","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}

{"title":"Integrative immunogenomic and experimental characterization reveals CXCL9, CXCL13, CCL5 and CD74 as key oncogenic drivers in breast cancer.","authors":"Mohammed A Alshehri, Mohammed Alissa","doi":"10.1007/s00335-026-10218-3","DOIUrl":"10.1007/s00335-026-10218-3","url":null,"abstract":"<p><p>Breast cancer remains the most prevalent malignancy among women worldwide, driven by complex interactions between tumor-intrinsic factors and the immune microenvironment. Understanding immune-related molecular regulators is essential to improve diagnostic and therapeutic strategies. Transcriptomic data from the TCGA-BRCA dataset (1109 tumor and 113 normal samples) were analyzed to identify differentially expressed immune-related genes by cross-referencing ImmPort and InnateDB gene sets. Protein-protein interaction networks were constructed using STRING and Cytoscape to identify hub genes. Validation analyses were conducted using GSCA, cBioPortal, and GEO datasets. miRNA-mRNA regulatory interactions were explored using TargetScan, miRDB, miRWalk, and miRTarBase databases, followed by dual-luciferase reporter assays. Functional characterization of CCL5 and CD74 was performed through siRNA-mediated knockdown in breast cancer cell lines, proliferation, colony formation, and wound healing assays, as well as xenograft mouse models. Four key immune-related hub genes, including CXCL9, CXCL13, CCL5, and CD74 were identified as significantly upregulated in breast cancer. Epigenetic and prognostic analyses revealed that these genes were influenced by promoter methylation and correlated with poor survival outcomes. miRNA-mRNA network analysis identified hsa-miR-146a-5p and hsa-miR-200c-3p as central regulators, validated by luciferase assays. Functional studies showed that silencing CCL5 and CD74 significantly reduced cell proliferation, migration, and tumor growth in vivo, confirming their oncogenic roles. This integrative multi-omics and experimental study identified CCL5 and CD74 as key immune-oncogenic drivers of breast cancer progression. Their modulation of the MIF-CD74 signaling axis highlights potential therapeutic targets for immunomodulatory interventions and combination therapy in breast cancer.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593005","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}

{"title":"Unravelling male infertility through epigenetics: present understanding and future challenges.","authors":"S Amrita Malini, Almitra Abhijit Dravid, Ritwika Saha, Abilash Valsala Gopalakrishnan, Sandra Kannampuzha","doi":"10.1007/s00335-026-10217-4","DOIUrl":"10.1007/s00335-026-10217-4","url":null,"abstract":"<p><p>Male infertility affects about 15% of couples worldwide, out of which 50% of the affected are males. Male infertility is a multifactorial condition that can alter sperm motility, morphology, and function, and also cause other complications that can result in a sterile male individual. In recent years, research has been focused on the significance of reproductive health and how lifestyle and other environmental factors contribute to this issue. Studies have also reported that epigenetic factors can contribute to the alterations observed in several male infertility conditions. Epigenetic modifications like DNA methylation, histone modifications, chromatin remodeling, and ncRNA regulations serve a major role in the regulation of spermatozoan. Several therapies based on epigenetics are being investigated. Identifying epigenetic biomarkers will help in predicting the impact and cause of male infertility. Elucidation of the molecular mechanism and regulation of epigenetic factors will allow a better understanding of the disease progression. This will aid in tailoring early diagnostic and therapeutic strategies to improve the outcomes of the affected individuals. This review aims to provide a deeper understanding of male infertility by examining the interplay between these molecular mechanisms and contributing factors to facilitate the development of novel therapeutic and diagnostic strategies.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593033","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}

{"title":"Hongwu mixture exerts inhibition on triple-negative breast cancer by regulating SAV1/Hippo signaling through ZNF143.","authors":"Aiping Wu, Jun Ma, Qiong Wang, Aifei Chen, Wenling Lv, Yu Zhang, Hongying Zhang","doi":"10.1007/s00335-026-10220-9","DOIUrl":"10.1007/s00335-026-10220-9","url":null,"abstract":"<p><p>Hongwu mixture (HWM) consists of Taxus chinensis, Marsdenia tenacissima, Rhizoma Curcumae, and Semen coicis. The objective of this study was to ascertain the potential role of the Hongwu mixture (HWM) in the treatment of triple-negative breast cancer (TNBC). TNBC cells were treated with low, medium, and high doses of HWM, and CCK-8 assays were conducted to evaluate the impact of different doses of HWM on TNBC cell viability. The target molecules of HWM were predicted using RNA-sequencing, and molecular docking models between HWM components and target proteins were developed. As the dose of HWM increased, TNBC cell viability gradually decreased. HWM inhibited the proliferation and mobility of TNBC cells, slowed the tumor growth, and upregulated the apoptosis of TNBC cells. HWM promoted Zinc finger protein 143 (ZNF143)-mediated transcriptional activation of salvador family WW domain-containing protein 1 (SAV1) by stabilizing ZNF143 protein expression, leading to phosphorylation of large tumor suppressor homolog 1 (LATS1) and Yes-associated protein 1 (YAP1). Knockdown of ZNF143/SAV1 signaling impaired the therapeutic effect of HWM, and treatment with verteporfin, pharmacological inhibition of YAP/TAZ, reversed the effects of knockdown of SAV1. Therefore, HWM might offer a potent strategy for managing TNBC effectively.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147530052","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}

{"title":"Comprehensive bioinformatics analysis and experimental validation reveal the role of circadian rhythm-related genes in the crosstalk between osteoporosis and atherosclerosis.","authors":"Tengyan Liu, Jiashuang Fan, Jianyun Fang, Zhuan Qu, Yaxin He, Kai Yang, Jianlin Yang, Juye Zhang, Dan Yang, Lifen Dai","doi":"10.1007/s00335-026-10216-5","DOIUrl":"10.1007/s00335-026-10216-5","url":null,"abstract":"<p><p>Osteoporosis (OP) and atherosclerosis (AS) are increasingly prevalent in aging populations and frequently coexist, sharing pathological features such as abnormal vascular calcification. However, the common marker genes underlying the crosstalk between OP and AS remain poorly understood. This study aimed to identify shared marker genes and cellular mechanisms contributing to the coexistence of OP and AS. Single-cell RNA sequencing (scRNA-seq) dataset and mRNA expression profiles related to OP and AS were obtained from the Gene Expression Omnibus (GEO) database. Bioinformatics analyses were performed using the R packages Seurat, AUCell, and hdWGCNA to identify circadian rhythm-related genes (CRGs) and associated cell populations. Naturally aged mice and a 0.25% adenine (AD)-induced mouse model were established. Micro-computed tomography (µCT), immunohistochemistry (IHC), immunofluorescence, Von Kossa staining, and RT-qPCR were conducted to experimentally validate the identified common genes. In human bone marrow samples, nine cell lineages comprising 17 subpopulations were identified, while six cell lineages comprising 18 subpopulations were identified in carotid artery samples. Circadian rhythm activity was significantly enriched in bone marrow stromal cells (BMSCs) in OP and vascular smooth muscle cells (VSMCs) in AS. By integrating scRNA-seq and bulk RNA-seq analyses, 69 common genes were identified, of which 15 hub genes were further selected through protein-protein interaction (PPI) network analysis. Experimental validation demonstrated that AEBP1 was markedly upregulated in both naturally aged and AD-induced mice, accompanied by increased PLIN1 expression, reduced osteocalcin (OCN) expression, and enhanced vascular calcification. This study reveals that circadian rhythm-related regulation of BMSCs in OP and VSMCs in AS plays a critical role in their coexistence. Furthermore, we identify shared marker genes, particularly AEBP1, which may serve as potential biomarkers and therapeutic targets for the concurrent development of OP and AS.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13031237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147530022","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}

{"title":"Vascular contribution to cognitive impairment and dementia (VCID): proceedings of 2025 workshop of the Jackson Laboratory.","authors":"Mehwish Anwer, Tetiana Poliakova, Ricardo D'Oliveira Albanus, Mohammad Iqbal H Bhuiyan, Adam M Brickman, Soumilee Chaudhuri, Leah Cuddy, Maxwell Eisenbaum, Kate Foley, Douglas B Gould, Catherine Hall, Costantino Iadecola, Olivia Marola, Christopher M Norris, Alaina Reagan, Julie Schneider, Donna Wilcock, Isabella Xu, Andrew Yang, Gareth Howell, Cheryl L Wellington","doi":"10.1007/s00335-026-10210-x","DOIUrl":"10.1007/s00335-026-10210-x","url":null,"abstract":"<p><p>The first Vascular Contributions to Cognitive Impairment and Dementia (VCID) Workshop, held on May12-16, 2025 at The Jackson Laboratory, provided scientific content and career development training in the latest developments in VCID and Alzheimer's Disease (AD) and related dementia (ADRD). The Workshop aimed to foster interdisciplinary collaborations and empower the next generation of diverse scientists to advance ADRD research from mechanism to intervention. The meeting placed a strong emphasis on neurovascular pathology, its central role in ADRD pathogenesis, its modulation by both central and peripheral factors, and the critical need to dissect the mechanistic basis of VCID through experimental models. The workshop included talks from both faculty and trainees and was bookended by two keynote addresses by Drs. Donna Wilcock and Costantino Iadecola, leaders and pioneers in the VCID field. The second VCID workshop is planned for April 28-May 1, 2026, to be held at Washington University in St. Louis.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12988892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458315","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}

{"title":"Polymorphisms in IRF3 exon 1 influence the immune response to Brucella infection in small ruminants.","authors":"U A Rossi, M E Caffaro, D N Gaute, M R Castaño, E Maurizio, M A Poli, C A Rossetti","doi":"10.1007/s00335-026-10212-9","DOIUrl":"10.1007/s00335-026-10212-9","url":null,"abstract":"<p><p>Brucellosis in small ruminants is primarily caused by Brucella ovis and zoonotic B. melitensis. IRF3 is a key transcription factor for IFNα/β gene induction in response to intracellular pathogens. Previously, we identified a genetic association between the rs540 deletion (a-allele) in IRF3 exon 1 and an increased resistance to B. melitensis natural infection in goats. Here, we studied the effect of IRF3 exon 1 polymorphisms on monocyte-derived macrophages (MDMs) in vitro response to Brucella spp. infection, and on the humoral response of goats to Brucella vaccination. Caprine MDMs with the Aa-genotype for rs540 exhibited higher bacterial load (p < 0.01), decreased production of reactive oxygen species (p < 0.05) and lower induction of iNOS, IL-12b, IL-18 and IL-1α mRNA expression (p < 0.05) at 24 h post-infection (h p.i.) with B. melitensis 16 M, in comparison to the aa-genotype. Moreover, the A-allele was associated with an early negativization to Brucella Buffered Plate Antigen test (p < 0.05) and reduced IgG antibody responses (p < 0.05) after Brucella vaccination in goats. On the other hand, ovine MDMs with the T-T-allele for the haplotype rs853-rs301 in IRF3 exon 1 exhibited lower bacterial loads and intracellular bacteria survival rates (ISR) at 24 h p.i. with B. melitensis Rev. 1 and B. ovis PA (p < 0.05), and reduced production of reactive nitrogen species and anion superoxide at 48 h p.i. with B. ovis (p < 0.001). In summary, these results show that polymorphisms in IRF3 exon 1 can influence the immune response of small ruminants to Brucella infection.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458345","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}

{"title":"Cancer-associated TRF1 mutations alter PARP1 interaction dynamics: an in silico study.","authors":"Apurwa Mishra, Trupti N Patel","doi":"10.1007/s00335-026-10211-w","DOIUrl":"10.1007/s00335-026-10211-w","url":null,"abstract":"<p><p>Telomeric repeat-binding factor 1 (TRF1), a core component of the shelterin complex, is essential for preserving telomere integrity by facilitating efficient replication fork progression across G-rich telomeric DNA. Through its interaction with poly (ADP-ribose) polymerase 1 (PARP1), TRF1 contributes to telomeric chromatin organization and supports the recruitment of helicases required to resolve replication-associated barriers. PARP1 is a central regulator of DNA repair and fork protection, navigating chromatin through a dynamic “monkey-bar” transfer mechanism in which its domains alternately engage distinct DNA sites. Pharmacological inhibition disrupts this dynamic behavior and induces PARP trapping, a cytotoxic state exploited therapeutically in DNA repair-deficient cancers. To explore whether TRF1 mutations could modulate PARP1 interaction dynamics in a manner conceptually analogous to trapping, we employed an integrative in silico pipeline combining pathogenicity prediction, structural modeling, protein-protein docking, and molecular dynamics simulations. Among mutations reported in COSMIC and dbSNP, four variants (D422G, W424L, R425G, and M427K) emerged as candidates with high disruptive potential, with the Myb-domain variant W424L prioritized for detailed analysis. Structural and dynamic analyses revealed that the W424L substitution alters local TRF1–PARP1 contact networks and biases PARP1 toward a more conformationally constrained interaction state, without altering the primary interface geometry. Collectively, these findings support a model in which specific TRF1 mutations may reprogram PARP1 interaction dynamics at telomeres. While experimental validation will be required, this work provides a hypothesis-generating framework suggesting that TRF1 variant profiling may help identify tumors with altered PARP1 dependency and differential sensitivity to PARP-targeted therapies.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458371","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}

{"title":"The North African maternal genetic diversity enriched by historical migrations: insights from a comprehensive analysis of complete mitogenomes.","authors":"Nasma Boumajdi, Houda Bendani, Lahcen Belyamani, Azeddine Ibrahimi","doi":"10.1007/s00335-026-10209-4","DOIUrl":"10.1007/s00335-026-10209-4","url":null,"abstract":"<p><p>North Africa has experienced significant gene flow throughout history, with Morocco occupying a strategic location at the crossroads of Africa and Europe. In this study, we compiled 869 complete mitogenome sequences from six North African populations to explore genetic diversity, haplogroup distributions, and phylogenetic relationships, with a specific emphasis on the Moroccan population. We obtained a high haplotype diversity across all populations, and neutrality tests yielded significant negative values, consistent with demographic expansion. We identified 56 haplogroups, dominated by U6, H, and L. Genetic differentiation between populations was low (FST = 0.001-0.014), and analysis of molecular variance indicated that most genetic variation occurs within populations, and reinforces the presence of a genetically cohesive Maghreb core. Phylogenetic and NeighborNet analyses showed that Moroccan sequences are widely distributed across haplogroups, with deep branching of macro-haplogroup L subclades, indicating early human migration patterns, including out-of-Africa dispersal and subsequent back-migrations. Bayesian demographic analysis of the prevalent haplogroups in Morocco revealed distinct evolutionary trajectories: an expansion of haplogroup L, a decline of U6, and an expansion of H. To complement the maternal perspective, we analyzed published Y-chromosome STR data from 2114 North African males. Haplotypic diversity remains high (> 0.97), and the haplogroup E-M81 predominates in Moroccan, Algerian, and Tunisian populations. Low pairwise Rst values further confirm the genetic homogeneity of North Africa and reinforce the strong cohesion of the Maghreb core. This study highlights a rich genetic heritage shaped by ancient and ongoing gene flow in North Africa.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":"37 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444147","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}