Mammalian Genome最新文献_第2页

Molecular diversity and phylogenetic analysis of ten sheep breeds from Khyber Pakhtunkhwa, Pakistan, based on mitochondrial D-loop sequences. 基于线粒体 D-loop 序列的巴基斯坦开伯尔巴图克瓦省 10 个绵羊品种的分子多样性和系统发育分析。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-30 DOI: 10.1007/s00335-024-10093-w

Shabir Ahmed, Muhammad Shahid Nadeem, Anna M Johansson, Elisabeth Jonas, Khushi Muhammad, Sardar Azhar Mehmood

{"title":"Molecular diversity and phylogenetic analysis of ten sheep breeds from Khyber Pakhtunkhwa, Pakistan, based on mitochondrial D-loop sequences.","authors":"Shabir Ahmed, Muhammad Shahid Nadeem, Anna M Johansson, Elisabeth Jonas, Khushi Muhammad, Sardar Azhar Mehmood","doi":"10.1007/s00335-024-10093-w","DOIUrl":"10.1007/s00335-024-10093-w","url":null,"abstract":"Livestock farming has a key role in many rural communities both economically and culturally. It plays an important role in overcoming the deficiencies of meat, milk, wool and various by-products. Pakistan has a large number of livestock, well-adapted to local conditions. and has some of the best tropical dairy breeds. Native sheep breeds stand a vital asset to the country's livestock sector because of their adaptability and unique genetic traits. However, knowledge of the genetic diversity of these sheep breeds remains limited. This study aims to investigate the genetic diversity of 10 local sheep breeds from Khyber Pakhtunkhwa by analyzing the mitochondrial D-loop from 159 individual samples of females. The sequenced data from the mtDNA D-loop showed 106 different haplotypes, with a haplotype diversity of 0.9854 ± 0.0041. Analysis of the mitochondrial D-loop revealed three distinct haplogroups (HapA, HapB, and HapC). Out of the 159 sequences, 125 (77.99%) grouped with HapA, 30 (18.87%) with HapB, and 5 (3.14%) with HapC. While HapA and HapB are commonly found in sheep breeds worldwide, the identification of 5 sequences belonging to HapC was unexpected. This haplogroup was seen in four sheep breeds: Afghani, Australian, Gauder and Waziri. Most interestingly, the two Pakistani-origin breeds, the Waziri sheep breed, from South of Waziristan and the Gauder, a crossbreed, have been identified with HapC haplogroup. This indicates that the sheep breeds of Khyber Pakhtunkhwa belong to three distinct phylogenetic lineages, suggesting a probable gene flow from the southwest to the northeast regions of the province.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"129-139"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910002","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

Impact of IL-6 rs1800795 and rs1800796 polymorphisms on clinical outcomes of COVID-19: a study on severity of disease in Turkish population. IL-6 rs1800795 和 rs1800796 多态性对 COVID-19 临床结果的影响：一项关于土耳其人群疾病严重程度的研究。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-11-20 DOI: 10.1007/s00335-024-10085-w

Nilgun Cekin, Seyda Akin, Ergun Pinarbasi, Okan Halef Doğan

{"title":"Impact of IL-6 rs1800795 and rs1800796 polymorphisms on clinical outcomes of COVID-19: a study on severity of disease in Turkish population.","authors":"Nilgun Cekin, Seyda Akin, Ergun Pinarbasi, Okan Halef Doğan","doi":"10.1007/s00335-024-10085-w","DOIUrl":"10.1007/s00335-024-10085-w","url":null,"abstract":"Coronavirus disease (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is exacerbated by cytokine storms, leading to severe inflammation. Interleukin-6 (IL-6) plays a critical role in this process, and variations in its promoter may influence disease severity. This study aims to investigate the relationship between IL6 promoter polymorphisms rs1800795 (G > C) and rs1800796 (G > C) and the severity of COVID-19 in the Turkish population. A total of 332 participants were included: 84 control, 80 with mild COVID-19, and 168 with severe COVID-19. IL6 polymorphisms were genotyped using the restriction fragment length polymorphism (RFLP) method. The genotypes rs1800795 GC (OR = 3.00, 95% CI: 1.669-5.398, p < 0.000), CC (OR = 7.44, 95% CI: 2.899-19.131, p < 0.000), and rs1800796 GC (OR = 2.76, 95% CI: 1.603-4.761, p < 0.000), as well as the alleles rs1800795 C (OR = 3.01, p < 0.000) and rs1800796 C (OR = 1.97, p = 0.002), may be associated with the severity of COVID-19. According to the Jonckheere-Terpstra (J-T) test, the most significant trends that vary linearly with disease severity were observed for D-dimer [J-T = 15.896, Effect size = 0.68 (0.61 to 0.76), p < 0.000] and CRP [J-T = 15.389, Effect size = 0.66 (0.59 to 0.73), p < 0.000]. The distribution of clinical parameters across genotype combinations (rs1800796/rs1800795*) showed that GC/GC* and GC/CC* were linked to a higher risk of severe inflammation, clotting, and organ damage. Additionally, it has been determined that the G-C and C-C haplotypes may be associated with increased severity of COVID-19. The rs1800795 and rs1800796 polymorphisms are linked to COVID-19 severity and could help guide future treatment strategies.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"213-229"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682208","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 cis-sQTL demonstrates genetic associations and functional implications of inflammatory processes in Nelore cattle muscle tissue. 顺式- sqtl的鉴定证明了内洛雷牛肌肉组织炎症过程的遗传关联和功能意义。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2025-01-18 DOI: 10.1007/s00335-024-10100-0

Thaís Cristina Ferreira Dos Santos, Evandro Neves Silva, Gabriela Bonfá Frezarim, Bruna Maria Salatta, Fernando Baldi, Larissa Fernanda Simielli Fonseca, Lucia Galvão De Albuquerque, Maria Malane Magalhães Muniz, Danielly Beraldo Dos Santos Silva

{"title":"Identification of cis-sQTL demonstrates genetic associations and functional implications of inflammatory processes in Nelore cattle muscle tissue.","authors":"Thaís Cristina Ferreira Dos Santos, Evandro Neves Silva, Gabriela Bonfá Frezarim, Bruna Maria Salatta, Fernando Baldi, Larissa Fernanda Simielli Fonseca, Lucia Galvão De Albuquerque, Maria Malane Magalhães Muniz, Danielly Beraldo Dos Santos Silva","doi":"10.1007/s00335-024-10100-0","DOIUrl":"10.1007/s00335-024-10100-0","url":null,"abstract":"This study aimed to identify splicing quantitative trait loci (cis-sQTL) in Nelore cattle muscle tissue and explore the involvement of spliced genes (sGenes) in immune system-related biological processes. Genotypic data from 80 intact male Nelore cattle were obtained using SNP-Chip technology, while RNA-Seq analysis was performed to measure gene expression levels, enabling the integration of genomic and transcriptomic datasets. The normalized expression levels of spliced transcripts were associated with single nucleotide polymorphisms (SNPs) through an analysis of variance using an additive linear model with the MatrixEQTL package. A permutation analysis then assessed the significance of the best SNPs for each spliced transcript. Functional enrichment analysis was performed on the sGenes to investigate their roles in the immune system. In total, 3,187 variants were linked to 3,202 spliced transcripts, with 83 sGenes involved in immune system processes. Of these, 31 sGenes were enriched for five transcription factors. Most cis-sQTL effects were found in intronic regions, with 27 sQTL variants associated with disease susceptibility and resistance in cattle. Key sGenes identified, such as GSDMA, NLRP6, CASP6, GZMA, CASP4, CASP1, TREM2, NLRP1, and NAIP, were related to inflammasome formation and pyroptosis. Additionally, genes like PIDD1, OPTN, NFKBIB, STAT1, TNIP3, and TREM2 were involved in regulating the NF-kB pathway. These findings lay the groundwork for breeding disease-resistant cattle and enhance our understanding of genetic mechanisms in immune responses.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"106-117"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008021","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

Exploring the mediating role of immune cells in the pathogenesis of IgA nephropathy through the inflammatory axis of gut microbiota from a genomic perspective. 从基因组学角度探讨免疫细胞通过肠道微生物群的炎症轴在 IgA 肾病发病机制中的介导作用。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-11-07 DOI: 10.1007/s00335-024-10081-0

Haoxiang Huang, Bohong Chen, Cong Feng, Wei Chen, Dapeng Wu

{"title":"Exploring the mediating role of immune cells in the pathogenesis of IgA nephropathy through the inflammatory axis of gut microbiota from a genomic perspective.","authors":"Haoxiang Huang, Bohong Chen, Cong Feng, Wei Chen, Dapeng Wu","doi":"10.1007/s00335-024-10081-0","DOIUrl":"10.1007/s00335-024-10081-0","url":null,"abstract":"IgA nephropathy (IgAN) is a chronic glomerular disease characterized by the deposition of IgA antibodies in the kidney's mesangium. Its pathogenesis involves genetic, immune, and environmental factors, particularly within the mucosal immune system and gut microbiota. Immune cells play a central role in mediating these processes, which this study investigates using Mendelian Randomization (MR) to explore causal relationships among gut microbiota, inflammatory markers, blood cells, and immune cells in IgAN pathogenesis. We conducted a two-sample MR analysis using Genome-Wide Association Study (GWAS) summary data to assess the causal effects of gut microbiota, inflammatory markers, and blood cell traits on IgAN. Data sources included the FinnGen dataset for IgAN and relevant GWAS datasets for immune traits, blood cells, and inflammatory markers. Inverse variance weighting (IVW) was the primary MR method, supported by sensitivity analyses. We particularly examined the mediation effect of immune cells on these exposures' influence on IgAN. Significant associations were found between several factors and IgAN. Gut microbiota traits, such as Firmicutes E and Sporomusales, increased IgAN risk, while Citrobacter A and Herbinix reduced it. Inflammatory markers, including Interleukin-10 and Fibroblast Growth Factor 23, promoted IgAN onset. Blood cell traits like red blood cell perturbation response increased risk, while monocyte perturbation response was protective. Immune traits played a key mediating role, with Transitional %B cells reducing IgAN risk and CD28- CD25 + + CD8br %T cells increasing it. This study highlights the pivotal mediating role of immune cells in the interactions between gut microbiota, inflammatory markers, and IgAN risk. These findings identify potential biomarkers and therapeutic targets, providing new insights into the immune mechanisms underlying IgAN and opportunities for intervention.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"306-316"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591116","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

Protein family FAM241 in human and mouse. 人和小鼠FAM241蛋白家族。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-23 DOI: 10.1007/s00335-024-10096-7

Quinlan Doctrove, Young Park, Daniel G Calame, Jacob Kitzman, Guy M Lenk, Miriam H Meisler

{"title":"Protein family FAM241 in human and mouse.","authors":"Quinlan Doctrove, Young Park, Daniel G Calame, Jacob Kitzman, Guy M Lenk, Miriam H Meisler","doi":"10.1007/s00335-024-10096-7","DOIUrl":"10.1007/s00335-024-10096-7","url":null,"abstract":"FAM241B was isolated in a genome-wide inactivation screen for generation of enlarged lysosomes. FAM241B and FAM241A comprise protein family FAM241 encoding proteins of 121 and 132 amino acid residues, respectively. The proteins exhibit 25% amino acid sequence identity and contain a domain of unknown function (DUF4605; pfam15378) that is conserved from primitive multicellular eukaryotes through vertebrates. Phylogenetic comparison indicates that duplication of the ancestral FAM241B gene occurred prior to the origin of fish. FAM241B has been deleted from the avian lineage. Fam241a and Fam241b are widely expressed in mouse tissues. Experimental knockout of mouse Fam241a, Fam241b, and the double knockout, did not generate a visible phenotype. Knockout of Fam241A and Fam241B did not exacerbate the phenotype of FIG4 null mice. RNAseq of brain RNA from double knockout mice detected reduced expression of several genes including Arke1e1 and RnaseL. The human variant p.Val115Gly in FAM241B was identified in a patient with developmental delay. Lysosome morphology in patient-derived fibroblasts was normal. In previous studies, FAM241A and FAM241B appeared to co-localize with proteins of the endoplasmic reticulum. The molecular function of this ancient protein family remains to be determined.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"83-92"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882471","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

From gut to kidney: microbiota modulates stone risk through inflammation-a mediated Mendelian randomization study. 从肠道到肾脏：微生物群通过炎症调节结石风险——一项介导的孟德尔随机研究。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-12-24 DOI: 10.1007/s00335-024-10094-9

Long Guo, Qing Lan, Min Zhou, Fei Liu

{"title":"From gut to kidney: microbiota modulates stone risk through inflammation-a mediated Mendelian randomization study.","authors":"Long Guo, Qing Lan, Min Zhou, Fei Liu","doi":"10.1007/s00335-024-10094-9","DOIUrl":"10.1007/s00335-024-10094-9","url":null,"abstract":"The gut microbiota (GM) can affect the immune system, which can lead to a variety of diseases, as confirmed by many studies. However, the exact mechanism by which GM affects kidney stone incidence through the immune system remains unclear. This study used a two-step, two-sample Mendelian randomization (MR) analysis by inverse variance weighting (IVW) method as well as Bayesian weighting (BWMR) to find out how the gut microbiota and inflammatory cytokines contribute to kidney stones, followed by a mediated MR analysis to exploreHow inflammatory cytokines are involved in the connection with the gut microbiota and kidney stones. MR analysis revealed that seven intestinal flora were protective against kidney stones, including family. Actinomycetaceae, family.Clostridiaceae1, genus.Clostridiumsensustricto1, genus. Hungatella, genus.LachnospiraceaeUCG001, genus.LachnospiraceaeUCG008 and order. Actinomycetales, while four intestinal flora, including genus. Haemophilus, genus. RuminococcaceaeUCG010, order.Rhodospirillales and phylum.Actinobacteria may increase the risk of kidney stones. In addition, it was confirmed that seven Inflammatory cytokines DNER, IL-18, IL-1α, SLAMF1, STAMPB, CST5 and FGF-5 in association with kidney stones. Notably, the mediating MR indicated the causal effect of phylum. Actinobacteria and order. Rhodospirillales gut group on kidney stones was mainly modulated by IL-18 levels, with mediating effects accounting for 15.8% and 12.8% of the total effect, respectively. The present study demonstrates this phylum. Actinobacteria and order. Rhodospirillales flora have an important role in reducing the risk of kidney stones and act mainly by modulating IL-18 levels.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"250-261"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882462","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

A fascination with tailless mice: a scientific historical review of studies of the T/t complex. 无尾小鼠的魅力：T/t复合体研究的科学历史回顾。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-10-14 DOI: 10.1007/s00335-024-10076-x

Robert P Erickson

引用次数: 0

Commentary: towards a national research infrastructure strategy for preclinical biological models in Australia. 评论：朝着澳大利亚临床前生物学模型的国家研究基础设施战略。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2025-01-20 DOI: 10.1007/s00335-024-10103-x

James E Hennessy, Sarah Nisbet, Michael S Dobbie

{"title":"Commentary: towards a national research infrastructure strategy for preclinical biological models in Australia.","authors":"James E Hennessy, Sarah Nisbet, Michael S Dobbie","doi":"10.1007/s00335-024-10103-x","DOIUrl":"10.1007/s00335-024-10103-x","url":null,"abstract":"Research infrastructure is critical for advancing knowledge of health and disease, fostering innovation through world-class, cutting-edge facilities and technical expertise. Phenomics Australia is Australia's national research infrastructure provider responsible for accelerating advances in mammalian functional genomics and precision medicine through the development and delivery of services and expertise in engineered disease model production, phenotyping, and biobanking. These capabilities and resources are enabled by Australia's National Collaborative Research Infrastructure Strategy and primarily support health and medical research for significant healthcare and economic benefits. Priorities identified in the Australian Government's 2021 National Research Infrastructure Roadmap include the development and expansion of capabilities in digital research infrastructure, improved research translation, and enhanced management of biological collections, which are strongly aligned with Phenomics Australia's strategy to develop and enable access to high-quality national genetics resources at scale. Here, we comment on Phenomics Australia's response to these national strategy imperatives and the critical role of preclinical biological models research infrastructure in Australia.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"1-9"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008016","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

Genetic factors underlying Mandibular prognathism: insights from recent human and animal studies. 下颌前突的遗传因素：近期人类和动物研究的启示。

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2024-11-28 DOI: 10.1007/s00335-024-10084-x

Han Fang, Peiran Li, Songsong Zhu, Ruiye Bi

{"title":"Genetic factors underlying Mandibular prognathism: insights from recent human and animal studies.","authors":"Han Fang, Peiran Li, Songsong Zhu, Ruiye Bi","doi":"10.1007/s00335-024-10084-x","DOIUrl":"10.1007/s00335-024-10084-x","url":null,"abstract":"This review aims to provide an updated overview of the genetic etiology of mandibular prognathism (MP), focusing on recent research efforts, to summarize the findings from human studies utilizing genome-wide association studies (GWAS), candidate gene analyses, whole exome sequencing (WES) and single-nucleotide polymorphisms (SNPs) in relation to MP. Additionally, insights from animal studies are incorporated to understand the molecular mechanisms underlying mandibular development and the pathogenesis of MP. A comprehensive literature search was conducted to identify relevant studies on the genetic basis of MP. Human studies employing GWAS, candidate gene analyses, and SNPs investigations were reviewed. Animal studies, including European seabass, zebrafish, transgenic mouse and miniature horse were also examined to provide additional insights into mandibular development and MP's pathogenesis using GWAS, WES, transgenic techniques, morpholino antisense oligos and homozygote. Human studies have identified multiple loci and genes potentially associated with MP through GWAS, candidate gene analyses, and SNP investigations. Animal models have contributed valuable information about the molecular mechanisms involved in mandibular development and the development of MP. Recent research efforts have enhanced our understanding of the genetic etiology of MP. Integration of genetic studies with functional analyses has shed light on key signaling pathways and gene regulatory networks implicated in MP.","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"293-305"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739882","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

Establishing the hybrid rat diversity program: a resource for dissecting complex traits.

IF 2.7 4区生物学

Mammalian Genome Pub Date : 2025-03-01 Epub Date: 2025-02-05 DOI: 10.1007/s00335-024-10102-y

M R Dwinell, A Takizawa, M Tutaj, L Malloy, R Schilling, A Endsley, W M Demos, J R Smith, S J Wang, J De Pons, A Kundurthi, A M Geurts, A E Kwitek

{"title":"Establishing the hybrid rat diversity program: a resource for dissecting complex traits.","authors":"M R Dwinell, A Takizawa, M Tutaj, L Malloy, R Schilling, A Endsley, W M Demos, J R Smith, S J Wang, J De Pons, A Kundurthi, A M Geurts, A E Kwitek","doi":"10.1007/s00335-024-10102-y","DOIUrl":"10.1007/s00335-024-10102-y","url":null,"abstract":"Rat models have been a major model for studying complex disease mechanisms, behavioral phenotypes, environmental factors, and for drug development and discovery. Inbred rat strains control for genetic background and allow for repeated, reproducible, cellular and whole animal phenotyping. The Hybrid Rat Diversity Panel (HRDP) was designed to be a powerful panel of inbred rats with genomic, physiological, and behavioral data to serve as a resource for systems genetics. The HRDP consists of 96-98 inbred rat strains aimed to maximize power to detect specific genetic loci associated with complex traits while maximizing the genetic diversity among strains. The panel consists of 32-34 genetically diverse inbred strains and two panels of recombinant inbred panels. To establish the HRDP program, embryo resuscitation and breeding were done to establish colonies for distribution. Whole genome sequencing was performed to achieve 30X coverage. Genomic, phenotype, and strain information is available through the Hybrid Rat Diversity Panel Portal at the Rat Genome Database ( http://rgd.mcw.edu ).","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"25-37"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189806","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