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https://www.readbyqxmd.com/read/28819820/genome-wide-characterization-of-the-wrky-gene-family-in-radish-raphanus-sativus-l-reveals-its-critical-functions-under-different-abiotic-stresses
#1
Bernard Kinuthia Karanja, Lianxue Fan, Liang Xu, Yan Wang, Xianwen Zhu, Mingjia Tang, Ronghua Wang, Fei Zhang, Everlyne M'mbone Muleke, Liwang Liu
The radish WRKY gene family was genome-widely identified and played critical roles in response to multiple abiotic stresses. The WRKY is among the largest transcription factors (TFs) associated with multiple biological activities for plant survival, including control response mechanisms against abiotic stresses such as heat, salinity, and heavy metals. Radish is an important root vegetable crop and therefore characterization and expression pattern investigation of WRKY transcription factors in radish is imperative...
August 17, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28819569/a-study-on-il8rb-gene-polymorphism-as-a-potential-immuno-compromised-adherent-in-exaggeration-of-parenteral-and-mammo-crine-oxidative-stress-during-mastitis-in-buffalo
#2
S M El Nahas, A H El Kasas, A A Abou Mossallem, M I Abdelhamid, Mohamad Warda
The genetic markers in inflammatory responses during mastitis afford a reasonable way for improving milk production in the Egyptian buffalo breed. Among them is the interleukin 8 Receptor Gene (IL8RB) (CXCR2); a chemokine receptor gene augments the neutrophil migration during infection. To understand its role better during mastitis in Egyptian buffalos, twenty-five dairy animals representing the normal, sub-clinically, clinically and chronically affected buffalos were randomly selected from different districts...
November 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#3
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28818860/the-chickpea-early-flowering-1-efl1-locus-is-an-ortholog-of-arabidopsis-elf3
#4
Stephen Ridge, Amit Deokar, Robyn Lee, Ketema Daba, Richard C Macknight, James L Weller, Bunyamin Tar'an
In climates that experience short growing seasons due to drought, heat or end-of-season frost, early flowering is a highly desirable trait for chickpeas. In this study, we mapped, sequenced and characterized Efl1, an ortholog of Arabidopsis ELF3 that confers early flowering in chickpea. In a RIL population derived from a cross between CDC Frontier and ICCV 96029, this gene was mapped to the site of a QTL on Ca5 that explained 59% of flowering time variation under SD. Sequencing of ELF3 in ICCV 96029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature stop codon...
August 17, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28818616/molecular-insights-of-two-stat1-variants-from-rock-bream-oplegnathus-fasciatus-and-their-transcriptional-regulation-in-response-to-pathogenic-stress-interleukin-10-and-tissue-injury
#5
S D N K Bathige, Navaneethaiyer Umasuthan, G I Godahewa, William Shanthakumar Thulasitha, J D H E Jayasinghe, Qiang Wan, Jehee Lee
Signal transducers and activators of transcription 1 (STAT1) is critically involved in mediating cytokine-driven signaling, and triggers the transcription of target genes to activate cellular functions. Although the structural and functional aspects of STAT members have been well described in mammals, only limited information is available for the STAT genes in teleost fishes. In the present study, two variants of STAT1 genes (RbSTAT1 and RbSTAT1L) were identified from rock bream and characterized at the cDNA and genomic sequence levels...
August 14, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28815995/progressive-macrothrombocytopenia-and-hearing-loss-in-a-large-family-with-diaph1-related-disease
#6
Akira Ganaha, Tadashi Kaname, Ayano Shinjou, Yasutsugu Chinen, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Mikio Suzuki
In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R1213X. All patients in the family had sensorineural hearing loss and macrothrombocytopenia. None of the patients exhibited a tendency to bleed. No pathogenic variants were found in the MYH9 gene. Hearing loss began with high-frequency loss during early childhood and progressed to severe hearing loss involving all frequencies...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#7
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#8
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28814758/targeted-insertion-of-an-anti-cd2-monoclonal-antibody-transgene-into-the-ggta1-locus-in-pigs-using-foki-dcas9
#9
Mark B Nottle, Evelyn J Salvaris, Nella Fisicaro, Stephen McIlfatrick, Ivan Vassiliev, Wayne J Hawthorne, Philip J O'Connell, Jamie L Brady, Andrew M Lew, Peter J Cowan
Xenotransplantation from pigs has been advocated as a solution to the perennial shortage of donated human organs and tissues. CRISPR/Cas9 has facilitated the silencing of genes in donor pigs that contribute to xenograft rejection. However, the generation of modified pigs using second-generation nucleases with much lower off-target mutation rates than Cas9, such as FokI-dCas9, has not been reported. Furthermore, there have been no reports on the use of CRISPR to knock protective transgenes into detrimental porcine genes...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814372/association-of-cyp19a1-gene-polymorphisms-with-anoestrus-in-water-buffaloes
#10
Khairy M El-Bayomi, Ayman A Saleh, Ashraf Awad, Mahmoud S El-Tarabany, Hadeel S El-Qaliouby, Mohamed Afifi, Shymaa El-Komy, Walaa M Essawi, Essam A Almadaly, Mohammed A El-Magd
Cytochrome P450 aromatase (encoded by the CYP19A1 gene) regulates oestrogen biosynthesis and so plays an essential role in female fertility. We investigated the genetic association of CYP19A1 with the risk of anoestrus in Egyptian water buffaloes. A total of 651 animals (326 anoestrous and 325 cycling) were used in this case-control study. Using single-strand conformation polymorphisms and sequencing, four single nucleotide polymorphisms (SNPs) were detected; c.-135T>C SNP in the 5'UTR and three non-synonymous SNPs: c...
August 17, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28814288/monoallelic-characteristic-bearing-heterozygous-l1053x-in-brca2-gene-among-sudanese-women-with-breast-cancer
#11
Alsmawal A Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N Altayb, Mohamed Adel Taha, Mohammed N Nimir, Mohamed D Dafaalla, Musaab M Alfaki, Mohamed A Abdelrahim, Abdelmohaymin A Abdalla, Musab I Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC...
August 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#12
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28812131/dna-degrades-during-storage-in-formalin-fixed-and-paraffin-embedded-tissue-blocks
#13
Alice Guyard, Alice Boyez, Anaïs Pujals, Cyrielle Robe, Jeanne Tran Van Nhieu, Yves Allory, Julien Moroch, Odette Georges, Jean-Christophe Fournet, Elie-Serge Zafrani, Karen Leroy
Formalin-fixed paraffin-embedded (FFPE) tissue blocks are widely used to identify clinically actionable molecular alterations or perform retrospective molecular studies. Our goal was to quantify degradation of DNA occurring during mid to long-term storage of samples in usual conditions. We selected 46 FFPE samples of surgically resected carcinomas of lung, colon, and urothelial tract, of which DNA had been previously extracted. We performed a second DNA extraction on the same blocks under identical conditions after a median period of storage of 5...
August 15, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#14
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28810924/mutational-analysis-of-col1a1-and-col1a2-genes-among-estonian-osteogenesis-imperfecta-patients
#15
Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country. METHODS: We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations...
August 15, 2017: Human Genomics
https://www.readbyqxmd.com/read/28810710/testing-convergent-evolution-in-auditory-processing-genes-between-echolocating-mammals-and-the-aye-aye-a-percussive-foraging-primate
#16
Richard J Bankoff, Michael Jerjos, Baily Hohman, M Elise Lauterbur, Logan Kistler, George H Perry
Several taxonomically distinct mammalian groups-certain microbats and cetaceans (e.g., dolphins)-share both morphological adaptations related to echolocation behavior and strong signatures of convergent evolution at the amino acid level across seven genes related to auditory processing. Aye-ayes (Daubentonia madagascariensis) are nocturnal lemurs with a specialized auditory processing system. Aye-ayes tap rapidly along the surfaces of trees, listening to reverberations to identify the mines of wood-boring insect larvae; this behavior has been hypothesized to functionally mimic echolocation...
July 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28810295/-utility-and-evaluation-of-immunohistochemical-detection-of-braf-v600e-mutation-in-melanoma
#17
J J Lyu, Y Y Kong, X Cai, X X Shen, Y W Lu, M Ren
Objective: To evaluate the sensitivity, specificity and clinical value of anti-BRAF V600E antibody (clone VE1) in detection of the BRAF V600E mutant in formalin-fixed and paraffin-embedded (FFPE) melanoma specimens by immunohistochemical (IHC) methods. Methods: A total of 50 melanoma samples collected between 2008 and 2016 from 40 patients were analyzed for BRAF mutation (exon 15) by DNA sequencing using FFPE. These tissues were immunostained with VE1 antibody, and the results were analyzed and compared with those by DNA sequencing...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28808654/genome-wide-identification-and-transcriptional-expression-analysis-of-cucumber-superoxide-dismutase-sod-family-in-response-to-various-abiotic-stresses
#18
Yong Zhou, Lifang Hu, Hao Wu, Lunwei Jiang, Shiqiang Liu
Superoxide dismutase (SOD) proteins are widely present in the plant kingdom and play important roles in different biological processes. However, little is known about the SOD genes in cucumber. In this study, night SOD genes were identified from cucumber (Cucumis sativus) using bioinformatics-based methods, including 5 Cu/ZnSODs, 3 FeSODs, and 1 MnSOD. Gene structure and motif analysis indicated that most of the SOD genes have relatively conserved exon/intron arrangement and motif composition. Phylogenetic analyses with SODs from cucumber and several other species revealed that these SOD proteins can be traced back to two ancestral SODs before the divergence of monocot and dicot plants...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#19
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28803038/srsf-shape-analysis-for-sequencing-data-reveal-new-differentiating-patterns
#20
Sergiusz Wesolowski, Daniel Vera, Wei Wu
MOTIVATION: Sequencing-based methods to examine fundamental features of the genome, such as gene expression and chromatin structure, rely on inferences from the abundance and distribution of reads derived from Illumina sequencing. Drawing sound inferences from such experiments relies on appropriate mathematical methods to model the distribution of reads along the genome, which has been challenging due to the scale and nature of these data. RESULTS: We propose a new framework (SRSFseq) based on square root slope functions shape analysis to analyse Illumina sequencing data...
July 27, 2017: Computational Biology and Chemistry
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