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Genetics and Molecular Biology

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https://www.readbyqxmd.com/read/28810001/deferoxamine-synergizes-with-transforming-growth-factor-%C3%AE-signaling-in-chondrogenesis
#1
Zheng Huang, Guangxu He, Yanke Huang
Osteoarthritis, also known as degenerative arthritis or degenerative joint disease, is an epidemic disease that affects millions of people worldwide. Despite extensive recent work on the cellular biology of osteoarthritis, the precise mechanisms involved are still poorly understood and there is no effective treatment for this disease. The role of transforming growth factor-beta (TGF-β) in promoting chondrogenesis and inducing the expression of cartilage-specific extracellular matrix molecules to form cartilage is well-established...
August 14, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28767123/complete-mitochondrial-genome-of-the-lappet-moth-kunugia-undans-lepidoptera-lasiocampidae-genomic-comparisons-among-macroheteroceran-superfamilies
#2
Min Jee Kim, Jun Seong Jeong, Jong Seok Kim, Su Yeon Jeong, Iksoo Kim
The mitochondrial genome (mitogenome) characteristics of the monotypic Lasiocampoidea are largely unknown, because only limited number of mitogenomes is available from this superfamily. In this study, we sequenced the complete mitogenome of the lappet moth, Kunugia undans (Lepidoptera: Lasiocampidae) and compared it to those of Lasiocampoidea and macroheteroceran superfamilies (59 species in six superfamilies). The 15,570-bp K. undans genome had one additional trnR that was located between trnA and trnN loci and this feature was unique in Macroheterocera, including Lasiocampoidea...
July 31, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28767122/bradyrhizobium-elkanii-nod-regulon-insights-through-genomic-analysis
#3
Luciane M P Passaglia
A successful symbiotic relationship between soybean [Glycine max (L.) Merr.] and Bradyrhizobium species requires expression of the bacterial structural nod genes that encode for the synthesis of lipochitooligosaccharide nodulation signal molecules, known as Nod factors (NFs). Bradyrhizobium diazoefficiens USDA 110 possesses a wide nodulation gene repertoire that allows NF assembly and modification, with transcription of the nodYABCSUIJnolMNOnodZ operon depending upon specific activators, i.e., products of regulatory nod genes that are responsive to signaling molecules such as flavonoid compounds exuded by host plant roots...
July 31, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28767121/combined-association-of-presenilin-1-and-apolipoprotein-e-polymorphisms-with-maternal-meiosis-ii-error-in-down-syndrome-births
#4
Pranami Bhaumik, Priyanka Ghosh, Sujay Ghosh, Eleanor Feingold, Umut Ozbek, Biswanath Sarkar, Subrata Kumar Dey
Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin -1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms...
July 31, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28696482/cytotoxicity-and-genotoxicity-of-stilbene-derivatives-in-cho-k1-and-hepg2-cell-lines
#5
Cassia Suemi Mizuno, Winnifred Ampomaah, Fernanda Ribeiro Mendonça, Gabriela Carvalho Andrade, Ariel Maria Nazaré da Silva, Mirian Oliveira Goulart, Raquel Alves Dos Santos
The cytotoxicity and genotoxicity of the stilbenes (E)-methyl-4-(3-5-dimethoxystyryl)benzoate (ester), (E)-4-(3-5-dimethoxystyryl)aniline (amino), (Z)-1,3-dimethoxy-5-(4-methoxystyryl)benzene (cis-TMS) and (E)-1,3-dimethoxy-5-(4-methoxystyryl)benzene (trans-TMS) were investigated in this work. Structural modifications of resveratrol, a naturally occurring stilbene, have been previously performed, including the replacement of hydroxyl by different functional groups. Such modifications resulted in significant improvement of target-specific effects on cell death and antiproliferative responses...
July 10, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28696481/genome-wide-association-study-of-pre-harvest-sprouting-resistance-in-chinese-wheat-founder-parents
#6
Yu Lin, Shihang Liu, Yaxi Liu, Yujiao Liu, Guoyue Chen, Jie Xu, Mei Deng, Qiantao Jiang, Yuming Wei, Yanli Lu, Youliang Zheng
Pre-harvest sprouting (PHS) is a major abiotic factor affecting grain weight and quality, and is caused by an early break in seed dormancy. Association mapping (AM) is used to detect correlations between phenotypes and genotypes based on linkage disequilibrium (LD) in wheat breeding programs. We evaluated seed dormancy in 80 Chinese wheat founder parents in five environments and performed a genome-wide association study using 6,057 markers, including 93 simple sequence repeat (SSR), 1,472 diversity array technology (DArT), and 4,492 single nucleotide polymorphism (SNP) markers...
July 10, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28644507/intrachromosomal-karyotype-asymmetry-in-orchidaceae
#7
Enoque Medeiros-Neto, Felipe Nollet, Ana Paula Moraes, Leonardo P Felix
The asymmetry indexes have helped cytotaxonomists to interpret and classify plant karyotypes for species delimitation efforts. However, there is no consensus about the best method to calculate the intrachromosomal asymmetry. The present study aimed to compare different intrachromosomal asymmetry indexes in order to indicate which are more efficient for the estimation of asymmetry in different groups of orchids. Besides, we aimed to compare our results with the Orchidaceae phylogenetic proposal to test the hypothesis of Stebbins (1971)...
June 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534930/sensitivity-of-rt-pcr-method-in-samples-shown-to-be-positive-for-zika-virus-by-rt-qpcr-in-vector-competence-studies
#8
Marcelo Henrique Santos Paiva, Duschinka Ribeiro Duarte Guedes, Walter Soares Leal, Constância Flávia Junqueira Ayres
Tissue samples from mosquitoes artificially infected with Zika virus and shown to be positive by RT-qPCR were reexamined by RT-PCR. Using these samples we compared the two methods employed in virus RNA detection for vector competence studies. Results demonstrated that, albeit useful, RT-PCR gave false negatives with low viral loads (< 106 RNA copies/ml).
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28644509/comparative-transcriptomic-analysis-of-two-important-life-stages-of-angiostrongylus-cantonensis-fifth-stage-larvae-and-female-adults
#9
Liang Yu, Binbin Cao, Ying Long, Meks Tukayo, Chonglv Feng, Wenzhen Fang, Damin Luo
The mechanisms involved in the fast growth of Angiostrongylus cantonensis from fifth-stage larvae (L5) to female adults and how L5 breaks through the blood-brain barrier in a permissive host remain unclear. In this work, we compared the transcriptomes of these two life stages to identify the main factors involved in the rapid growth and transition to adulthood. RNA samples from the two stages were sequenced and assembled de novo. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses of 1,346 differentially expressed genes between L5 and female adults was then undertaken...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28644508/expression-of-serum-microrna-378-and-its-clinical-significance-in-renal-cell-carcinoma
#10
Lixin Shi, Lei Zhang, Chunyang Wang, Shengkun Sun, Xiyuan Cao, Xu Zhang
Studies have demonstrated that miRNA-378 is expressed in various malignant tumors. In the present study, we aimed to explore the expression of serum miRNA-378 and its clinical significance in renal cell carcinoma (RCC) patients. A total of 75 RCC patients, 63 renal cysts (RC) patients and 75 healthy controls were selected. The miRNA-378 level in RCC and RC groups was significantly higher than in healthy control group, with RCC group having the highest level. The miRNA-378 levels were significantly decreased within the same group after surgery...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590504/identifying-mazama-gouazoubira-artiodactyla-cervidae-chromosomes-involved-in-rearrangements-induced-by-doxorubicin
#11
Iara Maluf Tomazella, Vanessa Veltrini Abril, José Maurício Barbanti Duarte
The process of karyotype evolution in Cervidae from a common ancestor (2n = 70, FN = 70) has been marked by complex chromosomal rearrangements. This ancestral karyotype has been retained by the current species Mazama gouazoubira (Fischer 1814), for which a chromosomal polymorphism (Robertsonian translocations and the presence of B chromosomes) has been described, presumably caused by a chromosome fragility. Thus, this study has identified doxorubicin-induced chromosome aberrations and mapped the regions involved in breaks, which may be related to the chromosome evolution process...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590503/growth-hormone-insensitivity-with-immune-dysfunction-caused-by-a-stat5b-mutation-in-the-south-of-brazil-evidence-for-a-founder-effect
#12
Renata C Scalco, Fernanda T Gonçalves, Hadassa C Santos, Mari M S G Cardena, Carlos A Tonelli, Mariana F A Funari, Rosana M Aracava, Alexandre C Pereira, Cintia Fridman, Alexander A L Jorge
Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590502/a-snp-in-5-untranslated-region-of-cd40-gene-is-associated-with-an-increased-risk-of-ischemic-stroke-in-a-chinese-population-a-case-control-study
#13
Hua-Tuo Huang, Jing Guo, Yang Xiang, Jian-Ming Chen, Hong-Cheng Luo, Lan-Qing Meng, Ye-Sheng Wei
Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590501/novel-compound-heterozygous-mutations-of-aldh1a3-contribute-to-anophthalmia-in-a-non-consanguineous-chinese-family
#14
Yunqiang Liu, Yongjie Lu, Shasha Liu, Shunyao Liao
Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590500/genetic-diversity-of-morato-s-digger-toad-proceratophrys-moratoi-spatial-structure-gene-flow-effective-size-and-the-need-for-differential-management-strategies-of-populations
#15
Mauricio P Arruda, William P Costa, Shirlei M Recco-Pimentel
The Morato's Digger Toad, Proceratophrys moratoi, is a critically endangered toad species with a marked population decline in southern Brazilian Cerrado. Despite this, new populations are being discovered, primarily in the northern part of the distribution range, which raises a number of questions with regard to the conservation status of the species. The present study analyzed the genetic diversity of the species based on microsatellite markers. Our findings permitted the identification of two distinct management units...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28558075/a-never-ending-story-the-steadily-growing-family-of-the-fa-and-fa-like-genes
#16
Anna Gueiderikh, Filippo Rosselli, Januario B C Neto
Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28558074/individual-expression-features-of-gpx2-nqo1-and-sqstm1-transcript-variants-induced-by-hydrogen-peroxide-treatment-in-hela-cells
#17
Anna A Belanova, Dmitry S Smirnov, Maxim S Makarenko, Mariya M Belousova, Elena V Mashkina, Anzhela A Aleksandrova, Alexander V Soldatov, Peter V Zolotukhin
Pathway activity assessment-based approaches are becoming highly influential in various fields of biology and medicine. However, these approaches mostly rely on analysis of mRNA expression, and total mRNA from a given locus is measured in the majority of cases. Notably, a significant portion of protein-coding genes produces more than one transcript. This biological fact is responsible for significant noise when changes in total mRNA transcription of a single gene are analyzed. The NFE2L2/AP-1 pathway is an attractive target for biomedical applications...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#18
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534928/music-genetics-research-association-with-musicality-of-a-polymorphism-in-the-avpr1a-gene
#19
Luiza Monteavaro Mariath, Alexandre Mauat da Silva, Thayne Woycinck Kowalski, Gustavo Schulz Gattino, Gustavo Andrade de Araujo, Felipe Grahl Figueiredo, Alice Tagliani-Ribeiro, Tatiana Roman, Fernanda Sales Luiz Vianna, Lavínia Schuler-Faccini, Jaqueline Bohrer Schuch
Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534927/genome-wide-association-study-for-birth-weaning-and-yearling-weight-in-colombian-brahman-cattle
#20
Rodrigo Martínez, Diego Bejarano, Yolanda Gómez, Romain Dasoneville, Ariel Jiménez, Gael Even, Johann Sölkner, Gabor Mészáros
Genotypic and phenotypic data of 1,562 animals were analyzed to find genomic regions that potentially influence the birth weight (BW), weaning weight at seven months of age (WW) and yearling weight (YW) of Colombian Brahman cattle, with genotyping conducted using Illumina Bead chip array with 74,669 SNPs. A Single Step Genomic BLUP (ssGBLP), approach was used to estimate the proportion of variance explained by each marker. Multiple regions scattered across the genome were found to influence weights at different ages, also dependent on the trait component (direct or maternal)...
April 2017: Genetics and Molecular Biology
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