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https://www.readbyqxmd.com/read/29151059/genome-wide-association-study-of-telomere-length-among-south-asians-identifies-a-second-rtel1-association-signal
#1
Dayana A Delgado, Chenan Zhang, Lin S Chen, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Mohammad Yunus, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, Brandon L Pierce
BACKGROUND: Leucocyte telomere length (TL) is a potential biomarker of ageing and risk for age-related disease. Leucocyte TL is heritable and shows substantial differences by race/ethnicity. Recent genome-wide association studies (GWAS) report ~10 loci harbouring SNPs associated with leucocyte TL, but these studies focus primarily on populations of European ancestry. OBJECTIVE: This study aims to enhance our understanding of genetic determinants of TL across populations...
November 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29150721/adaptive-snp-set-association-testing-in-generalized-linear-mixed-models-with-application-to-family-studies
#2
Jun Young Park, Chong Wu, Saonli Basu, Matt McGue, Wei Pan
In genome-wide association studies (GWAS), it has been increasingly recognized that, as a complementary approach to standard single SNP analyses, it may be beneficial to analyze a group of functionally related SNPs together. Among the existent population-based SNP-set association tests, two adaptive tests, the aSPU test and the aSPUpath test, offer a powerful and general approach at the gene- and pathway-levels by data-adaptively combining the results across multiple SNPs (and genes) such that high statistical power can be maintained across a wide range of scenarios...
November 17, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/29150514/sinorhizobium-meliloti-glutathione-reductase-is-required-for-both-redox-homeostasis-and-symbiosis
#3
Guirong Tang, Ningning Li, Yumin Liu, Liangliang Yu, Junhui Yan, Li Luo
Glutathione (L-γ-glutamyl-L-cysteinylglycine; GSH), one of the key antioxidants in Sinorhizobium meliloti, is required for the development of alfalfa (Medicago sativa) nitrogen-fixing nodules. Glutathione exists either in a reduced form (GSH) or an oxidized form (GSSG), and its content is regulated by two pathways in S. meliloti The first pathway is the de novo synthesis of glutathione from its constituent amino acids, namely, Glu, Cys, and Gly, catalyzed by γ-glutamyl cysteine synthetase (GshA) and glutathione synthetase (GshB)...
November 17, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29148804/a-nanobionic-light-emitting-plant
#4
Seon-Yeong Kwak, Juan Pablo Giraldo, Min Hao Wong, Volodymyr Koman, Tedrick Lew, Jon Ell, Mark Weidman, Rosalie Sinclair, Markita P Landry, William A Tisdale, Michael S Strano
The engineering of living plants for visible light emission and sustainable illumination is compelling because plants possess independent energy generation and storage mechanisms and autonomous self-repair. Herein, we demonstrate a plant nanobionic approach that enables exceptional luminosity and lifetime utilizing four chemically-interacting nanoparticles, including firefly luciferase conjugated silica (SNP-Luc), D-luciferin releasing poly(lactic-co-glycolic acid) (PLGA-LH2), coenzyme A functionalized chitosan (CS-CoA) and semiconductor nanocrystal phosphors for longer wavelength modulation...
November 17, 2017: Nano Letters
https://www.readbyqxmd.com/read/29147935/nucleotide-and-octapeptide-repeat-variations-of-the-prion-protein-coding-gene-prnp-in-anatolian-murrah-and-crossbred-water-buffaloes
#5
Yalçın Yaman, Cemal Ün
Resistance to bovine spongiform encephalopathy (BSE) that is significantly associated with insertion/deletion (indel) polymorphisms at two loci (putative promoter and intron 1) on the prion protein gene (PRNP) in cattle has been well documented. Studies suggest that the insertion alleles are related to BSE resistance. Until recently, BSE has never been reported in water buffaloes (unlike cattle). Previous studies have demonstrated that the PRNP gene in water buffalo consists mostly of insertion alleles at both loci; nevertheless, whether or not water buffaloes are genetically resistant to BSE and the role of indel polymorphisms in their resistance status is not clear...
November 16, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/29147930/snp-association-study-in-pms2-associated-lynch-syndrome
#6
Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp, Theo A van Os, Liesbeth Spruijt, Bert J W Redeker, Manon Suerink, Yvonne J Vos, Anja Wagner, Juul T Wijnen, E W Steyerberg, Carli M J Tops, Tom van Wezel, Maartje Nielsen
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3...
November 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29147724/glabrous-cmgl-encodes-a-hd-zip-iv-transcription-factor-playing-roles-in-multicellular-trichome-initiation-in-melon
#7
Huayu Zhu, Xiaofen Sun, Qi Zhang, Pengyao Song, Qianmei Hu, Xiaojing Zhang, Xiang Li, Jianbin Hu, Junsong Pan, Shouru Sun, Yiqun Weng, Luming Yang
Map-based cloning identified CmGL that encodes a HD-ZIP type IV transcription factor that controls multicellular trichome initiation in melon. Trichomes are small hairs covering the aerial parts of plants that originate from the epidermal cells, which can protect plants against the damage by insects and pathogens. The regulatory pathway of unicellular trichomes has been well studied in the model plant Arabidopsis. Little is known about the genetic control and regulation of trichome development in melon (Cucumis melo L...
November 17, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#8
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29146998/regulation-of-gene-expression-and-rna-editing-in-drosophila-adapting-to-divergent-microclimates
#9
Arielle L Yablonovitch, Jeremy Fu, Kexin Li, Simpla Mahato, Lin Kang, Eugenia Rashkovetsky, Abraham B Korol, Hua Tang, Pawel Michalak, Andrew C Zelhof, Eviatar Nevo, Jin Billy Li
Determining the mechanisms by which a species adapts to its environment is a key endeavor in the study of evolution. In particular, relatively little is known about how transcriptional processes are fine-tuned to adjust to different environmental conditions. Here we study Drosophila melanogaster from 'Evolution Canyon' in Israel, which consists of two opposing slopes with divergent microclimates. We identify several hundred differentially expressed genes and dozens of differentially edited sites between flies from each slope, correlate these changes with genetic differences, and use CRISPR mutagenesis to validate that an intronic SNP in prominin regulates its editing levels...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29146548/first-molecular-characterisation-of-a-brazilian-burkholderia-mallei-strain-isolated-from-a-mule-in-2016
#10
K Laroucau, V Lucia de Assis Santana, G Girault, B Martin, P P Miranda da Silveira, M Brasil Machado, M Joseph, R Wernery, U Wernery, S Zientara, N Madani
We present the first molecular characterisation based on MLVA and SNP analysis of a strain of Burkholderia mallei isolated from a mule found dead in Brazil in 2016.
November 13, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29146545/werner-syndrome-wrn-gene-variants-and-their-association-with-altered-function-and-age-associated-diseases
#11
REVIEW
Michel Lebel, Raymond J Monnat
Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Here we review base pair-level genetic variation that has been documented in WRN, with an emphasis on non-synonymous coding single nucleotide polymorphisms (SNPs) and their associations with anthropomorphic features, longevity and disease risk...
November 13, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29146444/snps-in-the-toll1-receptor-of-litopenaeus-vannamei-are-associated-with-immune-response
#12
Defu Yao, Huimin Su, Jinghua Zhu, Xianliang Zhao, Jude Juventus Aweya, Fan Wang, Mingqi Zhong, Yueling Zhang
Tolls and Toll-like receptors (TLRs) are important regulators in the innate immune system and their genetic variations usually affect the host's susceptibility/resistance to pathogen infections. In this study, we report on the single nucleotide polymorphisms (SNPs) of Toll1 in Litopenaeus vannamei (LvToll1) and how this is associated with immune response. PCR-DGGE analysis revealed genetic polymorphisms in LvToll1 at both the genomic DNA (gDNA) and cDNA levels. Using high-throughput sequencing, 223 SNPs were identified at the gDNA level, of which 145 were non-synonymous SNP (nsSNP), with 3 nsSNPs having frequency over 1%...
November 13, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29146361/rheological-characterization-of-gum-and-starch-nanoparticle-blends
#13
Mariana Perez Herrera, Thava Vasanthan
Commercial interest on the application of starch nanoparticles (SNP) in food is rapidly growing. Since gums are commonly used in food processing for their texturizing functionality, it is important to understand the influence of SNP on gum rheology. λ-Carrageenan and xanthan gum were selected in this study due to their wide range of applications in food systems. SNP isolated from waxy (0% amylose) and high amylose maize (71% amylose) were used. Binary blends consisting of 0.5% (w/v) gum and different concentrations of SNP were prepared and their flow behaviors evaluated using a rheometer...
March 15, 2018: Food Chemistry
https://www.readbyqxmd.com/read/29146157/angiotensin-converting-enzyme-2-activation-ameliorates-pulmonary-endothelial-dysfunction-in-rats-with-pulmonary-arterial-hypertension-through-mediating-phosphorylation-of-endothelial-nitric-oxide-synthase
#14
Gang Li, Han Zhang, Lei Zhao, Yaozhong Zhang, Daole Yan, Yinglong Liu
This study aims to investigate the effect of angiotensin-converting enzyme 2 (ACE2) activation on pulmonary endothelial function in the process of preventing pulmonary arterial hypertension (PAH) in rat models and to explore the underlying mechanisms. Specific pathogen free rats were randomly divided into five groups including control group, PAH group, PAH + Resorcinolnaphthalein (Res) group (ACE2 activation), PAH + Res + MLN4760 group (ACE2 inhibition), and PAH + Res + L-NAME group (endothelial nitric oxide synthase [eNOS] inhibition)...
October 28, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/29146098/characterization-of-polymorphism-in-the-fsh-receptor-gene-and-its-impact-on-some-reproductive-indices-in-dairy-cows
#15
Hassan Sharifiyazdi, Abdolah Mirzaei, Zahra Ghanaatian
Follicle stimulating hormone (FSH) is released from the anterior pituitary gland and has an important role in female fertility. As FSH is a glycoprotein polypeptide hormone which cannot pass through the cell membrane, its influence on target cells must be mediated by the FSH receptor (FSHR). Accordingly, any kind of mutation in FSHR can affect reproduction in dairy cows. In this study, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for recognition of a point mutation (A/G: position -278) located in the FSHR gene in Iranian dairy cows...
November 6, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/29145422/missense-mutation-at-cldn8-associated-with-a-high-plasma-interferon-gamma-inducible-protein-10-level-in-methadone-maintained-patients-with-urine-test-positive-for-morphine
#16
Tung-Hsia Liu, Ren-Hua Chung, Sheng-Chang Wang, Chiu-Ping Fang, Hsiao-Hui Tsou, Chia-Lung Shih, Hsiang-Wei Kuo, Yun Wang, Yu-Li Liu
We previously reported a high plasma chemokine interferon gamma-inducible protein 10 (IP-10) level and prolonged electrocardiography QT-interval in methadone maintenance treatment (MMT) patients with HIV or HCV infection. The purpose of this study was to evaluate the genetic association of high plasma IP-10 level in the MMT patients. The gene-based and pathway-based association analyses were conducted using a genome-wide association study dataset in 344 MMT patients for identifying genes and pathways associated with plasma IP-10 level...
2017: PloS One
https://www.readbyqxmd.com/read/29144210/a-new-allele-of-the-kappa-casein-gene-in-local-zebu-cattle-breeds
#17
Tauseef Ahmad, Ashwin Atkulwar, Sameera Farah, Vijendra Singh, Mumtaz Baig
Local zebu cattle breeds in Indian villages are crossbred with exotic breeds at an unprecedented rate without utilising the full potential of genomic technologies. In addition to agriculture produce, livestock, particularly cattle, constitute a vital source of livelihood for farmers in India. Age-old agricultural practices, errant monsoon, and frequent crop failures have resulted in Maharashtra having the highest number of farmer suicides in the country. Local cattle breeds are considered low-yield breeds and thus are primarily used as beasts of burden...
November 16, 2017: Journal of Dairy Research
https://www.readbyqxmd.com/read/29143920/distinguishing-the-disease-associated-snps-based-on-composition-frequency-analysis
#18
Wenling Li, Menglong Li, Xuemei Pu, Yanzhi Guo
Single-nucleotide polymorphism (SNP) is a basical variation in genome. When SNPs occur at the binding sites of microRNA, they can influence the binding efficiency, cause a fluctuation of the mRNA in vivo, and thus arouse posttranscriptional level abnormality. Therefore, SNP has a strong correlation with diseases. Although enormous SNPs have been experimentally identified, only a tiny proportion of them are truly disease-associated SNPs (dSNPs) that relate to microRNA modification and then are involved in disease causing process...
November 16, 2017: Interdisciplinary Sciences, Computational Life Sciences
https://www.readbyqxmd.com/read/29143708/genome-wide-association-study-for-growth-traits-in-nelore-cattle
#19
A P N Terakado, R B Costa, G M F de Camargo, N Irano, T Bresolin, L Takada, C V D Carvalho, H N Oliveira, R Carvalheiro, F Baldi, L G de Albuquerque
The objective of this study was to investigate the association of single nucleotide polymorphisms (SNPs) with birth weight, weight gain from birth to weaning and from weaning to yearling, yearling height and cow weight in Nelore cattle. Data from 5064 animals participating in the DeltaGen and PAINT breeding programs were used. The animals were genotyped with a panel of 777 962 SNPs (Illumina BovineHD BeadChip) and 412 993 SNPs remained after quality control analysis of the genomic data. A genome-wide association study was performed using a single-step methodology...
November 16, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29143671/gwas-of-agronomic-traits-in-soybean-collection-included-in-breeding-pool-in-kazakhstan
#20
Alibek Zatybekov, Saule Abugalieva, Svetlana Didorenko, Yelena Gerasimova, Ivan Sidorik, Shynar Anuarbek, Yerlan Turuspekov
BACKGROUND: In recent years soybean is becoming one of the most important oilseed crops in Kazakhstan. Only within the last ten years (2006-2016), the area under soybean is expanded from 45 thousand hectares (ha) in 2006 to 120 thousand ha in 2016. The general trend of soybean expansion is from south-eastern to eastern and northern regions of the country, where average temperatures are lower and growing seasons are shorter. These new soybean growing territories were poorly examined in terms of general effects on productivity level among the diverse sample of soybean accessions...
November 14, 2017: BMC Plant Biology
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