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Mammalian Genome: Official Journal of the International Mammalian Genome Society

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https://www.readbyqxmd.com/read/28547032/car8-dorsal-root-ganglion-expression-and-genetic-regulation-of-analgesic-responses-are-associated-with-a-cis-eqtl-in-mice
#1
Roy C Levitt, Gerald Y Zhuang, Yuan Kang, Diana M Erasso, Udita Upadhyay, Mehtap Ozdemir, Eugene S Fu, Konstantinos D Sarantopoulos, Shad B Smith, William Maixner, Luda Diatchenko, Eden R Martin, Tim Wiltshire
Carbonic anhydrase-8 (Car8 mouse gene symbol) is devoid of enzymatic activity, but instead functions as an allosteric inhibitor of inositol trisphosphate receptor-1 (ITPR1) to regulate this intracellular calcium release channel important in synaptic functions and neuronal excitability. Causative mutations in ITPR1 and carbonic anhydrase-8 in mice and humans are associated with certain subtypes of spinal cerebellar ataxia (SCA). SCA mice are genetically deficient in dorsal root ganglia (DRG) Car8 expression and display mechanical and thermal hypersensitivity and susceptibility to subacute and chronic inflammatory pain behaviors...
May 25, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28516231/molecular-evolution-of-type-ii-mage-genes-from-ancestral-maged2-gene-and-their-phylogenetic-resolution-of-basal-mammalian-clades
#2
Marcos De Donato, Sunday O Peters, Tanveer Hussain, Hectorina Rodulfo, Bolaji N Thomas, Masroor E Babar, Ikhide G Imumorin
Type II melanoma-associated antigens (MAGE) are a subgroup of about a dozen proteins found in various locations in the genome and expressed in normal tissues, thus are not related to cancer as the type I MAGE genes. This gene family exists as a single copy in non-mammals and monotremata, but found as two copies in metatherians and occur as a diverse group in all eutherians. Our studies suggest MAGED2 as the ancestor of this subfamily and the most likely evolutionary history of eutherian type II MAGE genes is hereby proposed based on synteny conservation, phylogenetic relations, genome location, homology conservation, and the protein and gene structures...
May 17, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28500484/association-of-folate-metabolism-gene-polymorphisms-and-haplotype-combination-with-pulmonary-embolism-risk-in-chinese-han-population
#3
Xin Li, Ling Weng, Baihe Han, Yingnan Dai, Li Cha, Shujun Yan, Enze Jin
In this study, we aimed to investigate the association of four single nucleotide polymorphisms (SNPs) (MTHFR 677 C > T, MTHFR 1298 A > C, MTR 2756 A > G and MTRR 66 A > G), gene-gene interaction and haplotype combination with pulmonary embolism (PE) risk based on Chinese Han population. Logistic regression was performed to investigate association between four SNPs within folate metabolism gene and PE risk, and GMDR model was used to investigate the additional gene-gene interactions among the four SNPs...
May 12, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28497211/association-of-toll-like-receptor-gene-polymorphisms-and-its-interaction-with-hpv-infection-in-determining-the-susceptibility-of-cervical-cancer-in-chinese-han-population
#4
Ye Jin, Shuang Qiu, Na Shao, Jianhua Zheng
The aim of the study is to investigate the association of several single-nucleotide polymorphisms (SNPs) within Toll-like receptors (TLRs) gene and additional gene-gene and gene-human papillomavirus (HPV) infection interaction with cervical cancer risk. A total of 1262 participants are selected, including 420 cervical cancer patients and 842 control participants. Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among five SNPs within TLR gene and HPV infection...
May 11, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28474168/haplotype-analysis-on-relationship-of-ercc2-and-ercc3-gene-polymorphisms-with-osteosarcoma-risk-in-chinese-young-population
#5
Qiang Xu, Zuofu Zhang, Weixue Sun, Baiqiang Hu
The purpose of the study was to investigate the association of single-nucleotide polymorphisms (SNPs) within excision repair cross-complementation (ERCC) gene polymorphisms, additional gene-gene interaction, and haplotype combination with osteosarcoma risk. Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs. Logistic regression was performed to investigate the association between six SNPs within ERCC gene, additional gene-gene interaction on osteosarcoma risk...
May 4, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28405742/crispr-cas9-mediated-deletion-of-lncrna-gm26878-in-the-distant-foxf1-enhancer-region
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/28116503/genetic-analysis-of-a-mouse-cross-implicates-an-anti-inflammatory-gene-in-control-of-atherosclerosis-susceptibility
#18
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
#19
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/28229190/mouse-genetics-2016-meeting-report
#20
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
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