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Allelic exclusion

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https://www.readbyqxmd.com/read/29160564/functional-differences-in-transport-properties-of-natural-hkt1-1-variants-influence-shoot-na-exclusion-in-grapevine-rootstocks
#1
Sam W Henderson, Jake D Dunlevy, Yue Wu, Deidre H Blackmore, Rob R Walker, Everard J Edwards, Matthew Gilliham, Amanda R Walker
Under salinity, Vitis spp. rootstocks can mediate salt (NaCl) exclusion from grafted V. vinifera scions enabling higher grapevine yields and production of superior wines with lower salt content. Until now, the genetic and mechanistic elements controlling sodium (Na(+) ) exclusion in grapevine were unknown. Using a cross between two Vitis interspecific hybrid rootstocks, we mapped a dominant quantitative trait locus (QTL) associated with leaf Na(+) exclusion (NaE) under salinity stress. The NaE locus encodes six high-affinity potassium transporters (HKT)...
November 21, 2017: New Phytologist
https://www.readbyqxmd.com/read/29157217/genetics-of-na-exclusion-and-salinity-tolerance-in-afghani-durum-wheat-landraces
#2
Nawar Jalal Shamaya, Yuri Shavrukov, Peter Langridge, Stuart John Roy, Mark Tester
BACKGROUND: Selecting for low concentration of Na(+) in the shoot provides one approach for tackling salinity stress that adversely affects crop production. Novel alleles for Na(+) exclusion can be identified and then introduced into elite crop cultivars. RESULTS: We have identified loci associated with lower Na(+) concentration in leaves of durum wheat landraces originating from Afghanistan. Seedlings of two F2 populations derived from crossings between Australian durum wheat (Jandaroi) and two Afghani landraces (AUS-14740 and AUS-14752) were grown hydroponically and evaluated for Na(+) and K(+) concentration in the third leaf...
November 21, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29152917/the-distribution-of-the-drb4-01-03-01-02n-null-allele-in-hla-drb1-dqb1-haplotypes-in-the-croatian-population
#3
Z Grubic, M Maskalan, L Radmanic, K Š Jankovic, M B Kamenaric, R Zunec
The aim of the present study was to investigate frequency and haplotype distribution of DRB4 alleles in the Croatian population. The investigated sample consisted of 288 cadaveric samples positive for one of the DR53 alleles. HLA-A,-B,-C,-DRB1, and -DQB1 typing was performed using the PCR-SSP low resolution method, while HLA-DRB4 and selected HLA class II specificities typing was performed using PCR-SSP at the allelic level. Three different DRB4 alleles were observed among DRB1*04 samples; DRB4*01:02 (2.38%), DRB4*01:03 (91...
November 20, 2017: HLA
https://www.readbyqxmd.com/read/29151122/genetic-polymorphisms-in-18-autosomal-str-loci-in-the-tibetan-population-living-in-tibet-chamdo-southwest-china
#4
Zhenghui Li, Jian Zhang, Hantao Zhang, Ziqing Lin, Jian Ye
Short tandem repeats (STRs) play a vitally important role in forensics. Population data is needed to improve the field. There is currently no large population data-based data set in Chamdo Tibetan. In our study, the allele frequencies and forensic statistical parameters of 18 autosomal STR loci (D5S818, D21S11, D7S820, CSF1PO, D2S1338, D3S1358, VWA, D8S1179, D16S539, PentaE, TPOX, TH01, D19S433, D18S51, FGA, D6S1043, D13S317, and D12S391) included in the DNATyper™19 kit were investigated in 2249 healthy, unrelated Tibetan subjects living in Tibet Chamdo, Southwest China...
November 18, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29150238/a-t-cell-receptor-locus-harbors-a-malaria-specific-immune-response-gene
#5
Natalija Van Braeckel-Budimir, Stephanie Gras, Kristin Ladell, Tracy M Josephs, Lecia Pewe, Stina L Urban, Kelly L Miners, Carine Farenc, David A Price, Jamie Rossjohn, John T Harty
Immune response (Ir) genes, originally proposed by Baruj Benacerraf to explain differential antigen-specific responses in animal models, have become synonymous with the major histocompatibility complex (MHC). We discovered a non-MHC-linked Ir gene in a T cell receptor (TCR) locus that was required for CD8(+) T cell responses to the Plasmodium berghei GAP5040-48 epitope in mice expressing the MHC class I allele H-2D(b). GAP5040-48-specific CD8(+) T cell responses emerged from a very large pool of naive Vβ8...
November 10, 2017: Immunity
https://www.readbyqxmd.com/read/29148409/a-high-and-equal-prevalence-of-the-q703k-variant-in-nlrp3-patients-with-autoinflammatory-symptoms-and-ethnically-matched-controls
#6
Merav Lidar, Yael Brantz, Yael Shinar, Haike Reznik-Wolf, Avi Livneh, Ilan Ben Zvi, Rinat Cohen, Yaakov Berkun, Philip J Hashkes, Hagit Peleg, Aharon Kessel, Gleb Slobodin, Michael Rozenbaum, Ofra Goldzweig, Elon Pras
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed...
October 6, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148080/genetic-risk-factors-for-perception-of-symptoms-in-gerd-an-observational-cohort-study
#7
A Patel, S Hasak, B D Nix, G S Sayuk, R D Newberry, C P Gyawali
BACKGROUND: Genetic polymorphisms in G-protein beta-3 subunit (GNβ3) and beta-2 adrenergic receptor (ADRB2) are associated with pain and gut hypersensitivity, which can overlap with gastroesophageal reflux disease (GERD). AIM: To evaluate relationships between single nucleotide polymorphisms (SNPs) within GNβ3 and ADRB2 systems, and reflux symptom burden, GERD phenotypes from ambulatory reflux monitoring, and quality of life. METHODS: Symptomatic adults undergoing ambulatory reflux testing were recruited and phenotyped based on acid burden and symptom reflux association; major oesophageal motor disorders and prior foregut surgery were exclusions...
November 17, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29140481/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s-disease
#8
Laurie A Robak, Iris E Jansen, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M Shulman
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk...
November 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29139111/a-retrotransposon-in-an-hkt1-family-sodium-transporter-causes-variation-of-leaf-na-exclusion-and-salt-tolerance-in-maize
#9
Ming Zhang, Yibo Cao, Zhiping Wang, Zhi-Qiang Wang, Junpeng Shi, Xiaoyan Liang, Weibin Song, Qijun Chen, Jinsheng Lai, Caifu Jiang
Soil salinity is one of several major abiotic stresses that constrain maize productivity worldwide. An improved understanding of salt-tolerance mechanisms will thus enhance the breeding of salt-tolerant maize and boost productivity. Previous studies have indicated that the maintenance of leaf Na(+) concentration is essential for maize salt tolerance, and the difference in leaf Na(+) exclusion has previously been associated with variation in salt tolerance between maize varieties. Here, we report the identification and functional characterization of a maize salt-tolerance quantitative trait locus (QTL), Zea mays Na(+) Content1 (ZmNC1), which encodes an HKT-type transporter (designated as ZmHKT1)...
November 15, 2017: New Phytologist
https://www.readbyqxmd.com/read/29136713/-the-associations-between-adenosine-triphosphate-binding-cassette-subfamily-g-member-2-single-nucleotide-polymorphism-and-hyperuricemia-in-a-chinese-tertiary-hospital-faculty-cohort
#10
B Q Zhang, W G Fang, Y Zhang, S F Liu, X J Zeng
Objective: To investigate gender specific association between single nucleotide polymorphism rs2231142 and hyperuricemia. Method: A matched case-control study was conducted in a faculty cohort of a tertiary hospital in Beijing. The enrollment criteria were faculty member of the hospital with signed consent. The exclusion criteria were tumor, previous renal diseases, renal function damage, pregnancy, currently taking medicines that could increase or decrease serum uric acid level, and those who had gout. Males with serum uric acid>416...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29134366/genetic-characteristics-of-19-strs-in-chinese-uzbek-ethnic-and-its-phylogenetic-relationships-with-other-24-populations
#11
Xiaoye Jin, Wei Cui, Yuanyuan Wei, Yuling Mu, Qian Dong, Chong Chen, Yuxin Guo, Tingting Kong, Bofeng Zhu, Jiangang Chen
Allelic frequencies and genetic polymorphisms of 19 short tandem repeats loci were investigated so as to provide more genetic data for forensic applications in Chinese Uzbek group; besides, we evaluated phylogenetic relationships of Uzbek group with other populations. All loci were observed to conform to Hardy-Weinberg equilibrium after Bonferroni's correction. Two hundred and nine alleles were identified in 212 unrelated healthy Uzbek individuals and their allelic frequencies ranged from 0.0024 to 0.5259. The cumulative discrimination power and cumulative probability of exclusion were 0...
November 14, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29112969/monumental-olive-trees-of-cyprus-contributed-to-the-establishment-of-the-contemporary-olive-germplasm
#12
Katerina Anestiadou, Nikolaos Nikoloudakis, Marianna Hagidimitriou, Andreas Katsiotis
Even though Cyprus was an important crossing point for the westward spread of olive, and one of the primary regions of domestication, its genetic recourses remain uncharted at a great extent. Throughout the centuries, a number of ancient olive trees remain in the same orchards, contributing to Cypriot oleiculture and society. In an attempt to explore this monumental genetic pool, a survey was conducted to identify centennial olive trees in rural provinces of Cyprus. Microsatellites were employed in order to study their genetic composition (including rootstocks when feasible) and to establish possible associations among genotypes...
2017: PloS One
https://www.readbyqxmd.com/read/29101448/discovery-of-gorilla-mhc-c-expressing-c1-ligand-for-kir
#13
Jörg B Hans, Linda Vigilant
In comparison to humans and chimpanzees, gorillas show low diversity at MHC class I genes (Gogo), as reflected by an overall reduced level of allelic variation as well as the absence of a functionally important sequence motif that interacts with killer cell immunoglobulin-like receptors (KIR). Here, we use recently generated large-scale genomic sequence data for a reassessment of allelic diversity at Gogo-C, the gorilla orthologue of HLA-C. Through the combination of long-range amplifications and long-read sequencing technology, we obtained, among the 35 gorillas reanalyzed, three novel full-length genomic sequences including a coding region sequence that has not been previously described...
November 3, 2017: Immunogenetics
https://www.readbyqxmd.com/read/29100444/relationship-between-mitochondrial-dna-a10398g-polymorphism-and-parkinson-s-disease-a-meta-analysis
#14
Feifei Hua, Xiaona Zhang, Binghui Hou, Li Xue, Anmu Xie
Many studies have researched the mitochondrial DNA (mtDNA) A10398G in Parkinson's disease (PD) to determine the association between mtDNA A10398G and PD, but the results of their research were not consistent. Therefore, we performed a meta-analysis to demonstrate the connection between mtDNA A10398G and the susceptibility of PD. We searched PubMed, Web of Science, Springer Link, EMBASE and EBSCO databases up to identify relevant studies. Through strict inclusion and exclusion criteria, at last, 9 studies (total 3381 cases and 2810 controls) were included in our meta-analysis...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29069836/genetic-analysis-of-the-vitamin-d-receptor-start-codon-polymorphism-foki-in-cervical-vertebra-and-lumbar-spine-pathologies-a-meta-analysis
#15
Xinyu Hu, Min Liu, Yanjun Ni, Guolong Zhang
BACKGROUND: Vitamin D receptor (VDR) FokI polymorphism has been reported to influence the risk of spinal diseases. However, several studies suggest inconsistent results. Therefore, we performed this analysis to reveal the accurate relationship between VDR FokI polymorphism and spinal diseases. MATERIALS AND METHODS: 8 articles accord with the strict inclusion and exclusion criteria. 1116 cases and 1263 controls are entered into this analysis. The pooled odds ratios (ORs) and 95% confidence intervals (CI) are calculated to evaluate the association between VDR gene polymorphism and spinal diseases...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049242/the-prevalence-of-pi-s-and-pi-z-serpina1-alleles-in-healthy-individuals-and-copd-patients-in-saudi-arabia-a-case-control-study
#16
Noura Al-Jameil, Amina A Hassan, Rana Hassanato, Sree R Isac, Maram Al Otaiby, Fadwa Al-Shareef, Basmah Al-Maarik, Iman Al Ajeyan, Khloud Al-Bahloul, Samina Ghani, Dana Al-Torbak
Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected Saudi populations and to clarify the importance of genetic tests in the screening of people at risk for COPD.One thousand blood samples from healthy individuals and 1000 from COPD-affected Saudi individuals were genotyped for the above-mentioned alleles, using real-time polymerase chain reaction (PCR), with the exclusion of any other nationalities...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29046953/snp-typing-using-the-hid-ion-ampliseq%C3%A2-identity-panel-in-a-southern-chinese-population
#17
Ran Li, Chuchu Zhang, Haiyan Li, Riga Wu, Haixia Li, Zhenya Tang, Chenhao Zhen, Jianye Ge, Dan Peng, Ying Wang, Hongying Chen, Hongyu Sun
In the present study, 90 autosomal single nucleotide polymorphisms (SNPs) and 34 Y chromosomal SNPs were sequenced simultaneously using HID-Ion AmpliSeq™ Identity Panel on the Ion PGM™ platform for 125 samples in a southern Chinese population. Raw data were analyzed and forensic parameters were calculated. Haplogrouping concordance was also assessed using alternative methods based on Y-SNP haplotypes and Y-STR haplotypes. The results showed that allelic imbalance occurred more frequently with low coverage while several SNPs with high coverage were also observed with poor allelic balance, including rs214955, rs430046, rs7520386, rs876724, rs9171188, rs16981290, and rs2032631...
October 18, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29040503/the-role-of-early-life-growth-development-the-fto-gene-and-exclusive-breastfeeding-on-child-bmi-trajectories
#18
Yan Yan Wu, Stephen Lye, Laurent Briollais
Background: Recent studies have implicated the FTO gene in child and adult obesity. A longer duration of exclusive breastfeeding (EXBF) has been shown to reduce body mass index (BMI) and the risk of being overweight in the general population and among FTO gene carriers. However, it remains unclear whether the preventive effect of EXBF could be explained by its impact on early life growth development, e.g. ages at adiposity peak (AP) and adiposity rebound (AR) and BMI velocities in the first years of life, which are major determinants of overweight and obesity later in life...
October 1, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29035142/distribution-of-the-cd4-alleles-in-sus-scrofa-demonstrates-the-genetic-profiles-of-western-breeds-and-miniature-pigs
#19
Tomoko Eguchi-Ogawa, Tatsuya Matsubara, Daisuke Toki, Naohiko Okumura, Asako Ando, Hitoshi Kitagawa, Hirohide Uenishi
Widely used antipig CD4 monoclonal antibodies (mAbs) fail to recognize CD4 alleles characteristic of miniature pig lines such as the National Institutes of Health (NIH) miniature pigs and microminipigs. We surveyed polymorphisms in the coding sequence of the porcine CD4 gene among Western and Oriental pig breeds and Japanese wild boars and investigated their distribution. Of the 13 alleles that we identified among the 47 animals, 2 in group I and 3 in group II were found exclusively in Western breed pigs. Group IV alleles, which included mAb-nonbinding alleles, were found frequently in Oriental breed pigs, suggesting that the mAb-nonbinding allele arose from the gene pool of Oriental pigs...
October 16, 2017: Animal Biotechnology
https://www.readbyqxmd.com/read/29026463/t-cell-allorecognition-of-donor-glutathione-s-transferase-t1-in-plasma-cell-rich-rejection
#20
María José Martínez-Bravo, Berta Sánchez, José Manuel Sousa, María José Acevedo, Miguel Angel Gómez-Bravo, Antonio Núñez-Roldán, Isabel Aguilera
AIM: To investigate the role of glutathione S-transferase T1 donor-specific T lymphocytes in plasma cell-rich rejection of liver allografts. METHODS: The study group included 22 liver transplant patients. Among them, 18 patients were mismatched for the glutathione S-transferase T1 (GSTT1) alleles (don+/rec-), and 4 were matched (don+/rec+). Seven of the mismatched patients produced anti-GSTT1 antibodies and developed plasma cell-rich rejection (former de novo immune hepatitis)...
September 28, 2017: World Journal of Hepatology
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