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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/29978277/transcriptome-analysis-reveals-candidate-genes-involved-in-splay-leg-syndrome-in-piglets
#1
Tao Wu, Xu Zhang, Mi Tian, Qiangqiang Tao, Liang Zhang, Yueyun Ding, Xiaodong Zhang, Zongjun Yin
Splay leg is frequently observed in newborn piglets and leads to economic loss as well as welfare concerns. However, the etiology and pathogenesis of splay leg syndrome in piglets are still poorly understood. The aims of this paper were to characterize changes in the transcriptome of splay leg piglets and identify candidate genes responsible for this disease. We chose three splay leg piglets and their healthy full sibs, and constructed six RNA libraries using skeletal muscle samples from both groups and identified the differentially expressed genes between the two groups using RNA-seq...
July 6, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29971754/population-analysis-of-magnaporthe-oryzae-by-using-endogenous-repetitive-dna-sequences-and-mating-type-alleles-in-different-districts-of-karnataka-india
#2
D Jagadeesh, M K Prasanna Kumar, N S Devaki
Rice is the staple food crop of more than 60% of the population of the world. This crop suffers from blast disease caused by Magnaporthe oryzae. Information on the mating-type allele distribution and diversity of the pathogen population for the state of Karnataka, India is scanty. With this background, a total of 72 isolates of M. oryzae from rice in different districts of Karnataka were examined for identifying sexual mating alleles MAT1, MAT2 and understanding the genetic diversity based on DNA fingerprint of pot2, an inverted repeat transposon...
July 3, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29951891/molecular-characterization-of-microtubule-associated-protein-1-light-chain-3b-in-megalobrama-amblycephala-fed-with-high-fat-berberine-diets
#3
Wei-Na Xu, Dan-Hong Chen, Wen-Bin Liu, Jian-Xiong Xu, Shuo-Shuo Yang
This study tested the effect of berberine on autophagy-related protein of Megalobrama amblycephala fed with high fat diet under different feeding modes. The full-length complementary DNA (cDNA) of microtubule-associated protein 1-light chain 3B (LC3B) was 1871 bp with an open reading frame of 378 bp encoding 125 amino acids. High homology at nucleotide and amino acid sequences to carp LC3B was revealed though sequence analysis. LC3B was mainly (P < 0.05) expressed in hepatopancreas but lower in several peripheral tissues, including gill, intestine, kidney, and spleen...
June 28, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29946990/genome-wide-association-study-of-body-weight-in-wenshang-barred-chicken-based-on-the-slaf-seq-technology
#4
REVIEW
Fuwei Li, Haixia Han, Qiuxia Lei, Jinbo Gao, Jie Liu, Wei Liu, Yan Zhou, Huimin Li, Dingguo Cao
Chicken body weight (BW) is an economically important trait, and many studies have been conducted on genetic selection for BW. However, previous studies have detected functional chromosome mutations or regions using gene chips. The present study used the specific-locus amplified fragment sequencing (SLAF-seq) technology to perform a genome-wide association study (GWAS) on purebred Wengshang Barred chicken. A total of 1,286,715 single-nucleotide polymorphisms (SNPs) were detected, and 175,211 SNPs were selected as candidate SNPs for genome-wide association analysis using TASSEL general linear models...
June 27, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29938393/possible-association-of-the-tert-promoter-polymorphisms-rs2735940-rs7712562-and-rs2853669-with-diabetes-mellitus-in-obese-elderly-polish-population-results-from-the-national-polsenior-study
#5
Ewa Gutmajster, Jerzy Chudek, Aleksandra Augusciak-Duma, Malgorzata Szwed, Aleksandra Szybalska, Malgorzata Mossakowska, Monika Puzianowska-Kuznicka, Andrzej Wiecek, Aleksander L Sieron
One of the markers of aging is lymphocyte telomere length (LTL), which is affected by genetic constitution of the organism and environmental conditions, such as development and diseases, including diabetes. The relationship of the later seems to be bilateral. The enzyme responsible for the maintenance of telomere length is a subunit of telomerase-telomerase reverse transcriptase (TERT). The aims of the present study were to (1) determine the influence of the TERT promoter sequence SNP variants on relative telomere length (RTL) in an elderly Polish population and (2) explore the potential associations of the SNPs with the type 2 diabetes mellitus (T2DM) in the obese individuals...
June 25, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29936586/genome-wide-association-study-on-chicken-carcass-traits-using-sequence-data-imputed-from-snp-array
#6
Shuwen Huang, Yingting He, Shaopan Ye, Jiaying Wang, Xiaolong Yuan, Hao Zhang, Jiaqi Li, Xiquan Zhang, Zhe Zhang
Chicken carcass traits are economically important for the chicken industry. Detecting which genes affect chicken carcass traits is of great benefit to the genetic improvement of this important agricultural species. To investigate the genetic mechanism of carcass traits in chickens, we carried out a genome-wide association study (GWAS). A total of 435 Chinese indigenous chickens were phenotyped for carcass weight (CW), eviscerated weight with giblets (EWG), and eviscerated weight (EW) after slaughter at 91 days and were genotyped using a 600-K single nucleotide polymorphism (SNP) genotyping array...
June 23, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29931419/genetic-variants-of-major-genes-contributing-to-phosphate-and-calcium-homeostasis-and-their-association-with-serum-parameters-in-pigs
#7
Franziska Just, Henry Reyer, Eduard Muráni, Siriluck Ponsuksili, Michael Oster, Klaus Wimmers
Calcium and phosphorus are irreplaceable components of life. Tracking the fate of calcium and phosphorus in organisms deserves high attention due to their relevance in bone metabolism and subsequently animal health. Indeed, bone serves as reservoir for calcium and phosphorus, whose formation and resorption follow specific molecular routes including hormones, receptors, and transcription factors. The objective of the study was to analyze the genetic variation of major components driving mineral utilization such as calcitonin receptor, calcium sensing receptor, fibroblast growth factor 23 (FGF23), parathyroid hormone receptor, osteopontin, stanniocalcin 1, RAF-type zinc finger domain containing 1 (TRAFD1), and vitamin D receptor...
June 22, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29876718/identification-of-charcoal-rot-resistance-qtls-in-sorghum-using-association-and-in-silico-analyses
#8
Amer F Mahmoud, Salah Fatouh Abou-Elwafa, Tariq Shehzad
Charcoal rot disease, a root and stem disease caused by the soil-borne fungus Macrophomina phaseolina (Tassi) Goid., is a major biotic stress that limits sorghum productivity worldwide. Charcoal rot resistance-related parameters, e.g., pre-emergence damping-off%, post-emergence damping-off%, charcoal rot disease severity, and plant survival rates, were measured in a structured sorghum population consisting of 107 landraces. Analysis of variance of charcoal rot resistance-related parameters revealed significant variations in the response to M...
June 7, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29845577/novel-1q22-q23-1-duplication-in-a-patient-with-lambdoid-and-metopic-craniosynostosis-muscular-hypotonia-and-psychomotor-retardation
#9
Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Dawid Larysz, Aleksander Jamsheer
Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30-60% of patients, CS is caused by known genetic factors; however, in the rest of the cases, causative molecular lesions remain unknown. In this paper, we report on a sporadic male patient affected by complex CS (metopic and unilateral lambdoid synostosis), muscular hypotonia, psychomotor retardation, and facial dysmorphism...
May 29, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29725989/survey-of-potential-factors-involved-in-the-low-frequency-of-cp5-and-cp8-expression-in-staphylococcus-aureus-isolates-from-mastitis-of-dairy-cattle-from-argentina-chile-and-uruguay
#10
Maria Belen Ambroggio, Melina Soledad Perrig, Cecilia Camussone, Nazarena Pujato, Alicia Bertón, Edgardo Gianneechini, Silvia Alvarez, Ivan Sergio Marcipar, Luis Fernando Calvinho, Maria Sol Barbagelata
Staphylococcus aureus produces capsular polysaccharides (CPs) both in vivo and under defined culture conditions being serotypes 5 and 8 the most prevalent. S. aureus isolates that fail to produce CP5 or CP8 are defined as non-typeable (NT). Loss of capsule expression, however, may lead to S. aureus persistence in a chronically infected host. The prevalence of NT strains of S. aureus isolated from bovine mastitis varies according to the geographic origin of the strain. The aims of this work were to detect phenotypically and genotypically the capsular profile of 144 S...
May 3, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29705927/single-nucleotide-polymorphism-rs11614913-associated-with-cc-genotype-in-mir-196a2-is-overrepresented-in-laryngeal-squamous-cell-carcinoma-but-not-salivary-gland-tumors-in-polish-population
#11
Marcin Skalski, Adam Ustaszewski, Katarzyna Jaskiewicz, Katarzyna Kiwerska, Malgorzata Wierzbicka, Hanna Klimza, Reidar Grenman, Maciej Giefing
The miRNA-196a2 has shown significance in the development of various neoplasms, including head and neck squamous cell carcinoma (HNSCC). The oncogenic functionality of this miRNA is mediated via its potential to target annexin A1 mRNA, a tumor suppressor gene involved in inhibition of the NF-κB pathway. Interestingly, recent data indicate a susceptibility for aforementioned neoplasms in patients with the CC genotype vs the CT and TT genotypes of the rs11614913 SNP located within the DNA sequence of the miR-196a2 that results in elevated expression of the gene...
April 29, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29721857/correction-to-identification-of-novel-mutations-in-ffpe-lung-adenocarcinomas-using-deparray-sorting-technology-and-next-generation-sequencing
#12
Ji Won Lee, Jong-Yeon Shin, Jeong-Sun Seo
In the original article, part of Table 1 headings and entries were missing. The correct Table is as shown below. The original article has been corrected.
April 24, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29680930/splicing-mutations-in-human-genetic-disorders-examples-detection-and-confirmation
#13
REVIEW
Abramowicz Anna, Gos Monika
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing regulatory sequences (intronic and exonic splicing silencers and enhancers), create new ones, or activate the cryptic ones...
April 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29574509/linkage-disequilibrium-and-functional-analysis-of-pre1-insertion-together-with-snps-in-the-promoter-region-of-igfbp7-gene-in-different-pig-breeds
#14
Qingyan Wu, Hao Yu, Wenzhen Wei, Yunyun Cheng, Shan Huang, Hongyu Shi, Songcai Liu, Jichao Xia, Hongyao Jia, Linlin Hao
Polymorphisms in regions upstream of transcription initiation site may modify the transcriptional activity of target genes by changing promoter activity. This study aims to determine whether or not polymorphisms at porcine IGFBP7 promoter region affect gene expression. In this study, eight SNPs and one PRE1 insertion in this region were first confirmed. The PRE1 insertion was widespread in 20 Chinese indigenous breeds, but was not observed in three commercial breeds. A perfect linkage disequilibrium, consisting of six of those SNPs and a PRE1, was observed with two haplotypes (h1 and h2) in five pig breeds...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29564645/diagnostic-efficacy-and-new-variants-in-isolated-and-complex-autism-spectrum-disorder-using-molecular-karyotyping
#15
Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29549519/tip60-updates
#16
REVIEW
Ahmed H Ghobashi, Maher A Kamel
The maintenance of genome integrity is essential for organism survival. Therefore, eukaryotic cells possess many DNA repair mechanisms in response to DNA damage. Acetyltransferase, Tip60, plays a central role in ATM and p53 activation which are involved in DNA repair. Recent works uncovered the roles of Tip60 in ATM and p53 activation and how Tip60 is recruited to double-strand break sites. Moreover, recent works have demonstrated the role of Tip60 in cancer progression. Here, we review the current understanding of how Tip60 activates both ATM and p53 in response to DNA damage and his new roles in tumorigenesis...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29549518/correction-to-craniosynostosis-as-a-clinical-and-diagnostic-problem-molecular-pathology-and-genetic-counseling
#17
Anna Kutkowska-Kaźmierczak, Monika Gos, Ewa Obersztyn
In the original article, figures 1 and 2 were inadvertently interchanged initially. The correct figures are as shown below. The original article has been corrected.
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29524049/differences-between-horse-selection-based-on-two-forms-of-osteochondrosis-in-fetlock
#18
D Lewczuk, A Bereznowski, M Hecold, M Frąszczak, A Ruść, A Korwin-Kossakowska, J Szyda, S Kamiński
Horses lose potential opportunities because of health problems. Available breeding strategies are not effective enough, probably also because of the different definition used and its genetic usefulness. The aim of the study was to compare the genetic background estimated by the genome-wide association study (GWAS) for osteochondrosis using two different scaling osteochondrosis (OC)/healthy and osteochondrosis dissecans (OCD)/healthy systems for evaluating the disease status of investigated fetlock joints. Two hundred one Warmblood horses trained for performance tests (87 stallions and 114 mares) were phenotyped and genotyped...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29520708/association-study-between-copy-number-variation-and-beef-fatty-acid-profile-of-nellore-cattle
#19
Marcos Vinicius Antunes de Lemos, Elisa Peripolli, Mariana Piatto Berton, Fabiele Loise Braga Feitosa, Bianca Ferreira Olivieri, Nedenia Bonvino Stafuzza, Rafael Lara Tonussi, Sabrina Kluska, Hermenegildo Lucas Justino Chiaia, Lenise Mueller, Adrielli Mathias Ferrinho, Angelica Simone Cravo Prereira, Henrique Nunes de Oliveira, Lucia Galvão de Albuquerque, Fernando Baldi
The aim of this study was to analyze the association between the copy number variation regions (CNVRs) and fatty acid profile phenotypes for saturated (SFA), monosaturated (MUFA), polyunsaturated (PUFA), ω6 and ω3 fatty acids, PUFA/SFA and ω6/ω3 ratios, as well as for their sums, in Nellore cattle (Bos primigenius indicus). A total of 963 males were finished in feedlot and slaughtered with approximately 2 years of age. Animals were genotyped with the BovineHD BeadChip (Illumina Inc., San Diego, CA, USA)...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29500604/asymmetries-heterosis-and-phenotypic-profiles-of-red-junglefowl-white-plymouth-rocks-and-f-1-and-f-2-reciprocal-crosses
#20
D A T Sutherland, C F Honaker, B Dorshorst, L Andersson, P B Siegel
During the domestication of farm animals, humans have manipulated genetic variation for growth and reproduction through artificial selection. Here, data are presented for growth, reproductive, and behavior traits for the red junglefowl, a line of White Plymouth Rock chickens, and their F1 and F2 reciprocal crosses. Intra- and intergenerational comparisons for growth related traits reflected considerable additive genetic variation. In contrast, those traits associated with reproduction exhibited heterosis. The role of sexual selection was seen in the evolution of prominent secondary sexual ornaments that lend to female choice and male-male competition...
May 2018: Journal of Applied Genetics
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