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Breed and adaptive response modulate bovine peripheral blood cells＇ transcriptome

Journal of Animal Science and Biotechnology 2017年第2期8卷 335-350页

作者： Nataliya Poscic Tommaso Montanari Mariasilvia D’Andrea danilo licastro Fabio Pilla Paolo Ajmone-Marsan Andrea Minuti Sandy Sgorlon Department of Agriculture FoodEnvironment and Animal Science(DI4A)University of Udinevia delle Scienze 20633100 UdineItaly Department ofAgricultural Environmental and Food SciencesUniversity of Molisevia F.De Sanctis snc86100 CampobassoItaly. CBM S.c.r.I SS 14-km 163.5 AREAScience Park34149 BasovizzaTSitaly. Institute of Zootechnics Catholic University of the Sacred Heartvia Emilia Parmense 8429133 PiacenzaItaly.

Background： Adaptive response includes a variety of physiological modifications to face changes in external or internal conditions and adapt to a new situation. The acute phase proteins（APPs） are reactants synthesized against environmental stimuli like stress, infection, ***： To delineate the differences in molecular constituents of adaptive response to the environment we performed the whole-blood transcriptome analysis in Italian Holstein（IH） and Italian Simmental（IS） breeds. For this, 663 IH and IS cows from six commercial farms were clustered according to the blood level of APPs. Ten extreme individuals（five APP＋ and APP-variants） from each farm were selected for the RNA-seq using the Illumina sequencing technology. Differentially expressed（DE） genes were analyzed using dynamic impact approach（DIA）and DAVID annotation clustering. Milk production data were statistically elaborated to assess the association of APP＋ and APP-gene expression patterns with variations in milk ***： The overall de novo assembly of cDNA sequence data generated 13,665 genes expressed in bovine blood cells. Comparative genomic analysis revealed 1,152 DE genes in the comparison of all APP＋ vs. all APP-variants; 531 and 217 DE genes specific for IH and IS comparison respectively. In all comparisons overexpressed genes were more represented than underexpressed ones. DAVID analysis revealed 369 DE genes across breeds, 173 and 73 DE genes in IH and IS comparison respectively. Among the most impacted pathways for both breeds were vitamin B6 metabolism, folate biosynthesis, nitrogen metabolism and linoleic acid ***： Both DIA and DAVID approaches produced a high number of significantly impacted genes and pathways with a narrow connection to adaptive response in cows with high level of blood APPs. A similar variation in gene expression and impacted pathways between APP＋ and APP-variants was found between two studied breeds. Such similarity was also c

关键词： Acute phase proteins Adaptive response Dynamic impact approach(DIA) Hypothalamic-pituitaryadrenal(HPA) axis RNA-Seq Stress response Transcriptomics

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A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model

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Bone Research 2023年第1期11卷 201-214页

作者： Sharon Russo Federica Scotto di Carlo Antonio Maurizi Giorgio Fortunato Anna Teti danilo licastro Carmine Settembre Tommaso Mello Fernando Gianfrancesco Institute of Genetics and Biophysics“Adriano Buzzati-Traverso” National Research Council of ItalyNaplesItaly Department of Environmental Biological and Pharmaceutical Sciences and Technologies(DiSTABiF)University of Campania Luigi VanvitelliCasertaItaly Department of Biotechnological and Applied Clinical Sciences University of L’AquilaL’AquilaItaly AREA Science Park PadricianoTriesteItaly Telethon Institute of Genetics and Medicine(TIGEM) PozzuoliItaly Gastroenterology Unit Department of Experimental and Clinical Biochemical Sciences“Mario Serio”University of FlorenceFlorenceItaly IRCCS INM Neuromed PozzilliISItaly

Paget’s disease(PDB)is a late-onset bone remodeling disorder with a broad spectrum of symptoms and *** of the most aggressive forms is caused by the P937R mutation in the ZNF687 *** the genetic involvement of ZNF687 in PDB has been extensively studied,the molecular mechanisms underlying this association remain ***,we describe the first Zfp687 knock-in mouse model and demonstrate that the mutation recapitulates the PDB phenotype,resulting in severely altered bone *** microcomputed tomography analysis,we observed that 8-month-old mutant mice showed a mainly osteolytic phase,with a significant decrease in the trabecular bone volume affecting the femurs and the ***,osteoblast activity was deregulated,producing disorganized ***,this phenotype became pervasive in 16-month-old mice,where osteoblast function overtook bone resorption,as highlighted by the presence of woven bone in histological analyses,consistent with the PDB ***,we detected osteophytes and intervertebral disc degeneration,outlining for the first time the link between osteoarthritis and PDB in a PDB mouse *** sequencing of wild-type and Zfp687 knockout RAW264.7 cells identified a set of genes involved in osteoclastogenesis potentially regulated by Zfp687,e.g.,Tspan7,Cpe,Vegfc,and Ggt1,confirming its role in this ***,in this mouse model,the mutation was also associated with a high penetrance of hepatocellular ***,this study established an essential role of Zfp687 in the regulation of bone remodeling,offering the potential to therapeutically treat PDB,and underlines the oncogenic potential of ZNF687.

关键词： RAW264.7 Paget remodeling

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