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https://www.readbyqxmd.com/read/28938749/the-testicular-transcriptome-associated-with-spermatogonia-differentiation-initiated-by-gonadotrophin-stimulation-in-the-juvenile-rhesus-monkey-macaca-mulatta
#1
Suresh Ramaswamy, William H Walker, Paula Aliberti, Rahil Sethi, Gary R Marshall, Alyxzandria Smith, Seyedmehdi Nourashrafeddin, Alicia Belgorosky, Uma R Chandran, Mark P Hedger, Tony M Plant
STUDY QUESTION: What is the genetic landscape within the testis of the juvenile rhesus monkey (Macaca mulatta) that underlies the decision of undifferentiated spermatogonia to commit to a pathway of differentiation when puberty is induced prematurely by exogenous LH and FSH stimulation? SUMMARY ANSWER: Forty-eight hours of gonadotrophin stimulation of the juvenile monkey testis resulted in the appearance of differentiating B spermatogonia and the emergence of 1362 up-regulated and 225 down-regulated testicular mRNAs encoding a complex network of proteins ranging from enzymes regulating Leydig cell steroidogenesis to membrane receptors, and from juxtacrine and paracrine factors to transcriptional factors governing spermatogonial stem cell fate...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938736/deep-sequencing-shows-that-oocytes-are-not-prone-to-accumulate-mtdna-heteroplasmic-mutations-during-ovarian-ageing
#2
L Boucret, C Bris, V Seegers, D Goudenège, V Desquiret-Dumas, M Domin-Bernhard, V Ferré-L'Hotellier, P E Bouet, P Descamps, P Reynier, V Procaccio, P May-Panloup
STUDY QUESTION: Does ovarian ageing increase the number of heteroplasmic mitochondrial DNA (mtDNA) point mutations in oocytes? SUMMARY ANSWER: Our results suggest that oocytes are not subject to the accumulation of mtDNA point mutations during ovarian ageing. WHAT IS KNOWN ALREADY: Ageing is associated with the alteration of mtDNA integrity in various tissues. Primary oocytes, present in the ovary since embryonic life, may accumulate mtDNA mutations during the process of ovarian ageing...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938622/profiling-cancer-related-gene-mutations-in-oral-squamous-cell-carcinoma-from-japanese-patients-by-targeted-amplicon-sequencing
#3
Takafumi Nakagaki, Miyuki Tamura, Kenta Kobashi, Ryota Koyama, Hisayo Fukushima, Tomoko Ohashi, Masashi Idogawa, Kazuhiro Ogi, Hiroyoshi Hiratsuka, Takashi Tokino, Yasushi Sasaki
Somatic mutation analysis is a standard practice in the study of human cancers to identify mutations that cause therapeutic sensitization and resistance. We performed comprehensive genomic analyses that used PCR target enrichment and next-generation sequencing on Ion Proton semiconductor sequencers. Forty-seven oral squamous cell carcinoma (OSCC) samples and their corresponding noncancerous tissues were used for multiplex PCR amplification to obtain targeted coverage of the entire coding regions of 409 cancer-related genes (covered regions: 95...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938601/mutation-profile-based-methods-for-understanding-selection-forces-in-cancer-somatic-mutations-a-comparative-analysis
#4
Zhan Zhou, Yangyun Zou, Gangbiao Liu, Jingqi Zhou, Jingcheng Wu, Shimin Zhao, Zhixi Su, Xun Gu
Human genes exhibit different effects on fitness in cancer and normal cells. Here, we present an evolutionary approach to measure the selection pressure on human genes, using the well-known ratio of the nonsynonymous to synonymous substitution rate in both cancer genomes (CN /CS ) and normal populations (pN /pS ). A new mutation-profile-based method that adopts sample-specific mutation rate profiles instead of conventional substitution models was developed. We found that cancer-specific selection pressure is quite different from the selection pressure at the species and population levels...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938536/integrating-omics-data-and-protein-interaction-networks-to-prioritize-driver-genes-in-cancer
#5
Tiejun Zhang, Di Zhang
Although numerous approaches have been proposed to discern driver from passenger, identification of driver genes remains a critical challenge in the cancer genomics field. Driver genes with low mutated frequency tend to be filtered in cancer research. In addition, the accumulation of different omics data necessitates the development of algorithmic frameworks for nominating putative driver genes. In this study, we presented a novel framework to identify driver genes through integrating multi-omics data such as somatic mutation, gene expression, and copy number alterations...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938435/the-role-of-sequential-bmp-signaling-in-directing-human-embryonic-stem-cells-to-bipotential-gonadal-cells
#6
Kirsi Sepponen, Karolina Lundin, Katri Knuus, Pia Väyrynen, Taneli Raivio, Juha S Tapanainen, Timo Tuuri
Context: Human gonads arise as a pair of epithelial ridges on the surface of intermediate mesoderm (IM)-derived mesonephros. Toxic environmental factors and mutations in various genes are known to disturb normal gonadal development, but due to a lack of suitable in vitro models, detailed studies characterizing the molecular basis of the observed defects have not been performed. Objective: Our objective was to establish an in vitro method for studying differentiation of bipotential gonadal progenitors using human embryonic stem cells (hESCs), and to investigate the role of bone morphogenetic protein (BMP) in gonadal differentiation...
August 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938015/non-pharmacological-treatment-for-depressed-older-patients-in-primary-care-a-systematic-review-and-meta-analysis
#7
Floor Holvast, Btissame Massoudi, Richard C Oude Voshaar, Peter F M Verhaak
BACKGROUND: Late-life depression is most often treated in primary care, and it usually coincides with chronic somatic diseases. Given that antidepressants contribute to polypharmacy in these patients, and potentially to interactions with other drugs, non-pharmacological treatments are essential. In this systematic review and meta-analysis, we aimed to present an overview of the non-pharmacological treatments available in primary care for late-life depression. METHOD: The databases of PubMed, PsychINFO, and the Cochrane Central Register of Controlled Trials were systematically searched in January 2017 with combinations of MeSH-terms and free text words for "general practice," "older adults," "depression," and "non-pharmacological treatment"...
2017: PloS One
https://www.readbyqxmd.com/read/28937974/high-somatic-mutation-and-neoantigen-burden-are-correlated-with-decreased-progression-free-survival-in-multiple-myeloma
#8
A Miller, Y Asmann, L Cattaneo, E Braggio, J Keats, D Auclair, S Lonial, S J Russell, A K Stewart
Tumor-specific mutations can result in immunogenic neoantigens, both of which have been correlated with responsiveness to immune checkpoint inhibitors in highly mutagenic cancers. However, early results of single-agent checkpoint inhibitors in multiple myeloma (MM) have been underwhelming. Therefore, we sought to understand the relationship between mutation and neoantigen landscape of MM patients and responsiveness to therapies. Somatic mutation burden, neoantigen load, and response to therapy were determined using interim data from the MMRF CoMMpass study (NCT01454297) on 664 MM patients...
September 22, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28936167/a-somatic-movement-approach-to-fostering-emotional-resiliency-through-laban-movement-analysis
#9
Rachelle P Tsachor, Tal Shafir
Although movement has long been recognized as expressing emotion and as an agent of change for emotional state, there was a dearth of scientific evidence specifying which aspects of movement influence specific emotions. The recent identification of clusters of Laban movement components which elicit and enhance the basic emotions of anger, fear, sadness and happiness indicates which types of movements can affect these emotions (Shafir et al., 2016), but not how best to apply this knowledge. This perspective paper lays out a conceptual groundwork for how to effectively use these new findings to support emotional resiliency through voluntary choice of one's posture and movements...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28936144/prevalence-of-generalized-anxiety-disorder-and-major-depression-in-health-care-givers-of-disabled-patients-in-majmaah-and-shaqra-cities-kingdom-of-saudi-arabia
#10
Mansour Alzahrani, Fahad Alfahaid, Mohammed Almansour, Talal Alghamdi, Tahir Ansari, Waqas Sami, Talal Mislat Al Otaibi, Abdulmohsen Abdullah Al Humayn, Madullah Moutlaq Al Enezi
INTRODUCTION: Anxiety is an emotion characterized by feelings of tension, worried thoughts, and physical changes such as increased blood pressure, etc. The impact of anxiety and depression on health-caregivers of disabled patients are very important because these psychological disorders effects both the health-caregivers and the patients which lead to unexpected bad events. OBJECTIVES: The current study was aimed to find out the prevalence of generalized anxiety disorder and major depression in health-care givers of disabled patients and to observe associations between demographic characteristics and psychological disorders in Majmaah and Shaqra Cities, Kingdom of Saudi Arabia...
July 2017: International Journal of Health Sciences
https://www.readbyqxmd.com/read/28935935/igg1-memory-b-cells-keep-the-memory-of-ige-responses
#11
Jin-Shu He, Sharrada Subramaniam, Vipin Narang, Kandhadayar Srinivasan, Sean P Saunders, Daniel Carbajo, Tsao Wen-Shan, Nur Hidayah Hamadee, Josephine Lum, Andrea Lee, Jinmiao Chen, Michael Poidinger, Francesca Zolezzi, Juan J Lafaille, Maria A Curotto de Lafaille
The unique differentiation of IgE cells suggests unconventional mechanisms of IgE memory. IgE germinal centre cells are transient, most IgE cells are plasma cells, and high affinity IgE is produced by the switching of IgG1 cells to IgE. Here we investigate the function of subsets of IgG1 memory B cells in IgE production and find that two subsets of IgG1 memory B cells, CD80(+)CD73(+) and CD80(-)CD73(-), contribute distinctively to the repertoires of high affinity pathogenic IgE and low affinity non-pathogenic IgE...
September 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28935709/cip2a-acts-as-a-scaffold-for-cep192-mediated-mtoc-assembly-by-recruiting-plk1-and-aurora-a-during-meiotic-maturation
#12
HaiYang Wang, Min Ho Choe, In-Won Lee, Suk Namgoong, Jae-Sung Kim, Nam-Hyung Kim, Jeong Su Oh
In contrast to somatic cells where spindle microtubules are nucleated from centrosomes acting as major microtubule organizing centers (MTOCs), oocytes form meiotic spindles by assembling multiple acentriolar MTOCs without canonical centrosomes. Although Aurora A and Plk1 are required for these events, the underlying mechanisms remain largely unknown. Here we show that cancerous inhibitor of protein phosphatase 2A (CIP2A) regulates MTOC organization by recruiting Aurora A and Plk1 at spindle poles during meiotic maturation...
September 21, 2017: Development
https://www.readbyqxmd.com/read/28935668/chemical-reprogramming-of-mouse-embryonic-and-adult-fibroblast-into-endoderm-lineage
#13
Shangtao Cao, Shengyong Yu, Yan Chen, Xiaoshang Wang, Chunhua Zhou, Yuting Liu, Junqi Kuang, He Liu, Dongwei Li, Jing Ye, Yue Qing, Shilong Chu, Linlin Wu, Lin Guo, Yinxiong Li, Xiaodong Shu, Jiekai Chen, Jing Liu, Duanqing Pei
We report here an approach to redirect somatic cell fate under chemically defined conditions without transcription factors. We start by converting mouse embryonic fibroblasts (MEFs) to epithelial-like cells (ciELC) with chemicals and growth factors. Subsequent cell fate mapping reveals a robust induction of SOX17 in the resulting ELCs that can be further reprogrammed to endodermal progenitor cells (ciEPC). Interestingly, these cells can self-renew in vitro and further differentiate into albumin-producing hepatocytes that can rescue mice from acute live injury...
September 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28934930/xcavator-accurate-detection-and-genotyping-of-copy-number-variants-from-second-and-third-generation-whole-genome-sequencing-experiments
#14
Alberto Magi, Tommaso Pippucci, Carlo Sidore
BACKGROUND: We developed a novel software package, XCAVATOR, for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments. RESULTS: By using simulated and real datasets we showed that our tool, based on read count approach, is capable to predict the boundaries and the absolute number of DNA copies CNVs/CNAs with high resolutions. To demonstrate the power of our software we applied it to the analysis Illumina and Pacific Bioscencies data and we compared its performance to other ten state of the art tools...
September 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28934927/evolution-and-expression-analysis-reveal-the-potential-role-of-the-hd-zip-gene-family-in-regulation-of-embryo-abortion-in-grapes-vitis-vinifera-l
#15
Zhiqian Li, Chen Zhang, Yurui Guo, Weili Niu, Yuejin Wang, Yan Xu
BACKGROUND: The HD-Zip family has a diversity of functions during plant development. In this study, we identify 33 HD-Zip transcription factors in grape and detect their expressions in ovules and somatic embryos, as well as in various vegetative organs. RESULTS: A genome-wide survey for HD-Zip transcription factors in Vitis was conducted based on the 12 X grape genome (V. vinifera L.). A total of 33 members were identified and classified into four subfamilies (I-IV) based on phylogeny analysis with Arabidopsis, rice and maize...
September 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28934779/what-are-the-predictors-of-altered-central-pain-modulation-in-chronic-musculoskeletal-pain-populations-a-systematic-review
#16
Jacqui Clark, Jo Nijs, Gillian Yeowell, Peter Charles Goodwin
BACKGROUND: Altered central pain modulation is the predominant pain mechanism in a proportion of chronic musculoskeletal pain disorders and is associated with poor outcomes. Although existing studies predict poor outcomes such as persistent pain and disability, to date there is little consensus on what factors specifically predict altered central pain modulation. OBJECTIVES: To review the existing literature on the predictive factors specifically for altered central pain modulation in musculoskeletal pain populations...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934504/accumulation-of-histone-variant-h3-3-with-age-is-associated-with-profound-changes-in-the-histone-methylation-landscape
#17
Andrey Tvardovskiy, Veit Schwämmle, Stefan J Kempf, Adelina Rogowska-Wrzesinska, Ole N Jensen
Deposition of replication-independent histone variant H3.3 into chromatin is essential for many biological processes, including development and reproduction. Unlike replication-dependent H3.1/2 isoforms, H3.3 is expressed throughout the cell cycle and becomes enriched in postmitotic cells with age. However, lifelong dynamics of H3 variant replacement and the impact of this process on chromatin organization remain largely undefined. Using quantitative middle-down proteomics we demonstrate that H3.3 accumulates to near saturation levels in the chromatin of various mouse somatic tissues by late adulthood...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934495/a-germline-limited-piggybac-transposase-gene-is-required-for-precise-excision-in-tetrahymena-genome-rearrangement
#18
Lifang Feng, Guangying Wang, Eileen P Hamilton, Jie Xiong, Guanxiong Yan, Kai Chen, Xiao Chen, Wen Dui, Amber Plemens, Lara Khadr, Arjune Dhanekula, Mina Juma, Hung Quang Dang, Geoffrey M Kapler, Eduardo Orias, Wei Miao, Yifan Liu
Developmentally programmed genome rearrangement accompanies differentiation of the silent germline micronucleus into the transcriptionally active somatic macronucleus in the ciliated protozoan Tetrahymena thermophila. Internal eliminated sequences (IES) are excised, followed by rejoining of MAC-destined sequences, while fragmentation occurs at conserved chromosome breakage sequences, generating macronuclear chromosomes. Some macronuclear chromosomes, referred to as non-maintained chromosomes (NMC), are lost soon after differentiation...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#19
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933967/aid-biology-a-pathological-and-clinical-perspective
#20
Meenal Choudhary, Anubhav Tamrakar, Amit Kumar Singh, Monika Jain, Ankit Jaiswal, Prashant Kodgire
Activation-induced cytidine deaminase (AID), primarily expressed in activated mature B lymphocytes in germinal centers, is the key factor in adaptive immune response against foreign antigens. AID is responsible for producing high-affinity and high-specificity antibodies against an infectious agent, through the physiological DNA alteration processes of antibody genes by somatic hypermutation (SHM) and class-switch recombination (CSR) and functions by deaminating deoxycytidines (dC) to deoxyuridines (dU), thereby introducing point mutations and double-stranded chromosomal breaks (DSBs)...
September 21, 2017: International Reviews of Immunology
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