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Mammalian Genome: Official Journal of the International Mammalian Genome Society

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https://www.readbyqxmd.com/read/28405742/crispr-cas9-mediated-deletion-of-lncrna-gm26878-in-the-distant-foxf1-enhancer-region
#1
Przemyslaw Szafranski, Justyna A Karolak, Denise Lanza, Marzena Gajęcka, Jason Heaney, Paweł Stankiewicz
Recent genome editing techniques, including CRISPR mutagenesis screens, offer unparalleled opportunities to study the regulatory non-coding genomic regions, enhancers, promoters, and functional non-coding RNAs. Heterozygous point mutations in FOXF1 and genomic deletion copy-number variants at chromosomal region 16q24.1 involving FOXF1 or its regulatory region mapping ~300 kb upstream of FOXF1 and leaving it intact have been identified in the vast majority of patients with a lethal neonatal lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)...
April 12, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28401291/the-human-retinoblastoma-susceptibility-gene-rb1-an-evolutionary-story-in-primates
#2
Maria C Viana, William C Tavares, Ayslan C Brant, Mariana Boroni, Héctor N Seuánez
The tumor suppressor gene RB1 (Human Retinoblastoma Susceptibility Gene) plays a prominent role in normal development, gene transcription, DNA replication, repair, and mitosis. Its complete biallelic dysfunction in retinoblasts is the main cause of retinoblastoma in the human. Although this gene has been evolutionary conserved, comparisons between the reference and human RB1 coding region with its counterparts in 19 non-human primates showed 359 sites where nucleotide replacements took place during the radiation of these species...
April 11, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28396939/fat-and-carbohydrate-content-in-the-diet-induces-drastic-changes-in-gene-expression-in-young-g%C3%A3-ttingen-minipigs
#3
Caroline M Junker Mentzel, Tainã Figueiredo Cardoso, Annika M J Lex, Dorte Bratbo Sørensen, Merete Fredholm, Susanna Cirera
In human health, there is interest in developing specific diets to reduce body weight. These studies are mainly focused on phenotypic changes induced in blood measurements, i.e., triglycerides, HDL, LDL, and insulin, and on physical changes, i.e., body weight and BMI. To evaluate the biological impact of diet interventions, it is very important to investigate the molecular mechanisms driving the diet-induced phenotypic changes in relevant tissues. However, studying these effects in humans is difficult due to ethical concerns in doing interventions and obtaining tissue samples and good animal models are therefore needed...
April 10, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28378063/bridging-the-gap-large-animal-models-in-neurodegenerative-research
#4
REVIEW
S L Eaton, T M Wishart
The world health organisation has declared neurological disorders as one of the greatest public health risks in the world today. Yet, despite this growing concern, the mechanisms underpinning many of these conditions are still poorly understood. This may in part be due to the seemingly diverse nature of the initiating insults ranging from genetic (such as the Ataxia's and Lysosomal storage disorders) through to protein misfolding and aggregation (i.e. Prions), and those of a predominantly unknown aetiology (i...
April 4, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28374058/control-of-gene-editing-by-manipulation-of-dna-repair-mechanisms
#5
Eric Danner, Sanum Bashir, Saniye Yumlu, Wolfgang Wurst, Benedikt Wefers, Ralf Kühn
DNA double-strand breaks (DSBs) are produced intentionally by RNA-guided nucleases to achieve genome editing through DSB repair. These breaks are repaired by one of two main repair pathways, classic non-homologous end joining (c-NHEJ) and homology-directed repair (HDR), the latter being restricted to the S/G2 phases of the cell cycle and notably less frequent. Precise genome editing applications rely on HDR, with the abundant c-NHEJ formed mutations presenting a barrier to achieving high rates of precise sequence modifications...
April 3, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28303292/editing-the-genome-of-hipsc-with-crispr-cas9-disease-models
#6
REVIEW
Andrew R Bassett
The advent of human-induced pluripotent stem cell (hiPSC) technology has provided a unique opportunity to establish cellular models of disease from individual patients, and to study the effects of the underlying genetic aberrations upon multiple different cell types, many of which would not normally be accessible. Combining this with recent advances in genome editing techniques such as the clustered regularly interspaced short palindromic repeat (CRISPR) system has provided an ability to repair putative causative alleles in patient lines, or introduce disease alleles into a healthy "WT" cell line...
March 16, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28303291/erratum-to-the-valdostana-goat-a-genome-wide-investigation-of-the-distinctiveness-of-its-selective-sweep-regions
#7
Andrea Talenti, Francesca Bertolini, Giulio Pagnacco, Fabio Pilla, Paolo Ajmone-Marsan, Max F Rothschild, Paola Crepaldi
No abstract text is available yet for this article.
March 16, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28299435/genome-wide-identification-classification-and-functional-analysis-of-the-basic-helix-loop-helix-transcription-factors-in-the-cattle-bos-taurus
#8
Fengmei Li, Wuyi Liu
The basic helix-loop-helix (bHLH) transcription factors (TFs) form a huge superfamily and play crucial roles in many essential developmental, genetic, and physiological-biochemical processes of eukaryotes. In total, 109 putative bHLH TFs were identified and categorized successfully in the genomic databases of cattle, Bos Taurus, after removing redundant sequences and merging genetic isoforms. Through phylogenetic analyses, 105 proteins among these bHLH TFs were classified into 44 families with 46, 25, 14, 3, 13, and 4 members in the high-order groups A, B, C, D, E, and F, respectively...
March 15, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28283737/mild-reproductive-impact-of-a-y-chromosome-deletion-on-a-c57bl-6j-substrain
#9
Megan M MacBride, Adam Navis, Amar Dasari, Ana V Perez
A recently reported deletion of about 40 Mb in length between 6.12/6.57 and 46.73/47.31 Mb on the Y chromosome long arm of the C57BL/6JBomTac inbred strain made us closely examine the strain's breeding history and reproductive characteristics. We verified that the two copies of Rbm31y that are present inside the putative deletion were indeed deleted. This inbred strain presents an expected litter size for a C57BL/6 substrain. In vitro fertilization (IVF) efficiency and breeding efficiencies are comparable to those of the C57BL/6NTac substrain; however, the male/female sex ratio in the C57BL/6JBomTac is mildly skewed towards females...
March 10, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28280930/crisprtools-a-flexible-computational-platform-for-performing-crispr-cas9-experiments-in-the-mouse
#10
Kevin A Peterson, Glen L Beane, Leslie O Goodwin, Peter M Kutny, Laura G Reinholdt, Stephen A Murray
Genome editing using the CRISPR/Cas9 RNA-guided endonuclease system has rapidly become a driving force for discovery in modern biomedical research. This simple yet elegant system has been widely used to generate both loss-of-function alleles and precision knock-in mutations using single-stranded donor oligonucleotides. Our CRISPRtools platform supports both of these applications in order to facilitate the use of CRISPR/Cas9. While there are several tools that facilitate CRISPR/Cas9 design and screen for potential off-target sites, the process is typically performed sequentially on single genes, limiting scalability for large-scale programs...
March 9, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28255622/the-valdostana-goat-a-genome-wide-investigation-of-the-distinctiveness-of-its-selective-sweep-regions
#11
Andrea Talenti, Francesca Bertolini, Giulio Pagnacco, Fabio Pilla, Paolo Ajmone-Marsan, Max F Rothschild, Paola Crepaldi
The Valdostana goat is an alpine breed, raised only in the northern Italian region of the Aosta Valley. This breed's main purpose is to produce milk and meat, but is peculiar for its involvement in the "Batailles de Chèvres," a recent tradition of non-cruel fight tournaments. At both the genetic and genomic levels, only a very limited number of studies have been performed with this breed and there are no studies about the genomic signatures left by selection. In this work, 24 unrelated Valdostana animals were screened for runs of homozygosity to identify highly homozygous regions...
March 2, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28251288/rnai-as-a-tool-to-control-the-sex-ratio-of-mouse-offspring-by-interrupting-zfx-zfy-genes-in-the-testis
#12
YongSheng Zhang, JiFeng Xi, Bin Jia, XiangZu Wang, XuHai Wang, ChaoCheng Li, YaQiang Li, XianCun Zeng, RuiWen Ying, Xin Li, Song Jiang, FangYuan Yuan
The objective of this study was to explore a novel method to alter the sex-ratio balance of mouse offspring by silencing the paralogous genes Zfx/Zfy (Zinc finger X/Y-chromosomal transcription factor gene) during spermatogenesis. Four recombined vectors PRZ1, PRZ2, PRZ3, and PRZ4 (RNAi-Ready-pSIREN-RetroQ-ZsGreen) were constructed for interrupting the Zfx gene. Additionally, a recombined vector Psilencer/Zfy-shRNA was constructed for interrupting the Zfy gene. Male mice were randomly divided into 8 groups, with 20 animals per group...
March 1, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28229190/mouse-genetics-2016-meeting-report
#13
REVIEW
Jordana C Bloom, Tina N Tran, Robert J Yamulla
No abstract text is available yet for this article.
February 22, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28116503/genetic-analysis-of-a-mouse-cross-implicates-an-anti-inflammatory-gene-in-control-of-atherosclerosis-susceptibility
#14
Norman E Garrett, Andrew T Grainger, Jing Li, Mei-Hua Chen, Weibin Shi
Nearly all genetic crosses generated from Apoe(-/-) or Lldlr(-/-) mice for genetic analysis of atherosclerosis have used C57BL/6 J (B6) mice as one parental strain, thus limiting their mapping power and coverage of allelic diversity. SM/J-Apoe (-/-) and BALB/cJ-Apoe (-/-) mice differ significantly in atherosclerosis susceptibility. 224 male F2 mice were generated from the two Apoe (-/-) strains to perform quantitative trait locus (QTL) analysis of atherosclerosis. F2 mice were fed 5 weeks of Western diet and analyzed for atherosclerotic lesions in the aortic root...
April 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28028563/whole-genome-sequencing-reveals-a-7-base-pair-deletion-in-dmd-exon-42-in-a-dog-with-muscular-dystrophy
#15
Peter P Nghiem, Luca Bello, Cindy Balog-Alvarez, Sara Mata López, Amanda Bettis, Heather Barnett, Briana Hernandez, Scott J Schatzberg, Richard J Piercy, Joe N Kornegay
Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments...
April 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27913859/complex-genetics-architecture-contributes-to-salmonella-resistance-in-acb60-mice
#16
Sean Beatty, Leïla Rached-D'Astous, Danielle Malo
Human infection with Salmonella is of global public health concern. In low- and middle-income countries, Salmonella infection is a major source of disease in terms of both mortality and morbidity, while in high-income nations, the pathogen is an ongoing threat to food security. The outcome of infection with Salmonella enterica serovar Typhimurium (Salmonella Typhimurium) in mouse models is dependent upon a coordinated and complex immune response. A panel of recombinant congenic strains (RCS) derived from the reciprocal double backcross of A/J and C57BL/6J mice has been screened for their susceptibility to Salmonella infection, and the RCS AcB60 was identified to be the most resistant strain to Salmonella infection, more resistant than the parental strain A/J...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27864587/evaluation-of-the-genetic-basis-of-primary-hypoadrenocorticism-in-standard-poodles-using-snp-array-genotyping-and-whole-genome-sequencing
#17
Steven G Friedenberg, Katharine F Lunn, Kathryn M Meurs
Primary hypoadrenocorticism, also known as Addison's disease, is an autoimmune disorder leading to the destruction of the adrenal cortex and subsequent loss of glucocorticoid and mineralocorticoid hormones. The disease is prevalent in Standard Poodles and is believed to be highly heritable in the breed. Using genotypes derived from the Illumina Canine HD SNP array, we performed a genome-wide association study of 133 carefully phenotyped Standard Poodles (61 affected, 72 unaffected) and found no markers significantly associated with the disease...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27853861/whole-genome-sequencing-of-guzer%C3%A3-cattle-reveals-genetic-variants-in-candidate-genes-for-production-disease-resistance-and-heat-tolerance
#18
Izinara C Rosse, Juliana G Assis, Francislon S Oliveira, Laura R Leite, Flávio Araujo, Adhemar Zerlotini, Angela Volpini, Anderson J Dominitini, Beatriz C Lopes, Wagner A Arbex, Marco A Machado, Maria G C D Peixoto, Rui S Verneque, Marta F Martins, Roney S Coimbra, Marcos V G B Silva, Guilherme Oliveira, Maria Raquel S Carvalho
In bovines, artificial selection has produced a large number of breeds which differ in production, environmental adaptation, and health characteristics. To investigate the genetic basis of these phenotypical differences, several bovine breeds have been sequenced. Millions of new SNVs were described at every new breed sequenced, suggesting that every breed should be sequenced. Guzerat or Guzerá is an indicine breed resistant to drought and parasites that has been the base for some important breeds such as Brahman...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27807798/glucose-tolerance-female-specific-qtl-mapped-in-collaborative-cross-mice
#19
Hanifa J Abu-Toamih Atamni, Yaron Ziner, Richard Mott, Lior Wolf, Fuad A Iraqi
Type-2 diabetes (T2D) is a complex metabolic disease characterized by impaired glucose tolerance. Despite environmental high risk factors, host genetic background is a strong component of T2D development. Herein, novel highly genetically diverse strains of collaborative cross (CC) lines from mice were assessed to map quantitative trait loci (QTL) associated with variations of glucose-tolerance response. In total, 501 mice of 58 CC lines were maintained on high-fat (42 % fat) diet for 12 weeks. Thereafter, an intraperitoneal glucose tolerance test (IPGTT) was performed for 180 min...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27798724/large-deletion-on-the-y-chromosome-long-arm-yq-of-c57bl-6jbomtac-inbred-mice
#20
Melina Fischer, Nadezda Kosyakova, Thomas Liehr, Peter Dobrowolski
The Y-chromosome of mice has a crucial role in sex determination, gender ratio equilibrium as well as male fertility, and is moreover involved in behavioral, immunological, and cardiovascular traits. During routine short tandem repeat genotyping of C57BL/6 substrains, a unique deletion on the Y-chromosome long arm of males from the commercially available inbred substrain C57BL/6JBomTac was identified. In this study, the deletion was confirmed by fluorescence in situ hybridization on metaphase spreads and the extent of the deletion was assessed using position-specific genetic markers...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
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