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Genetics and Molecular Biology

Juliana A Vianna, Daly Noll, Isidora Mura-Jornet, Paulina Valenzuela-Guerra, Daniel González-Acuña, Cristell Navarro, David E Loyola, Gisele P M Dantas
Microsatellites are valuable molecular markers for evolutionary and ecological studies. Next generation sequencing is responsible for the increasing number of microsatellites for non-model species. Penguins of the Pygoscelis genus are comprised of three species: Adélie (P. adeliae), Chinstrap (P. antarcticus) and Gentoo penguin (P. papua), all distributed around Antarctica and the sub-Antarctic. The species have been affected differently by climate change, and the use of microsatellite markers will be crucial to monitor population dynamics...
July 2017: Genetics and Molecular Biology
Flávio Henrique Souza de Araújo, Débora Rojas de Figueiredo, Sarah Alves Auharek, João Renato Pesarini, Alisson Meza, Roberto da Silva Gomes, Antônio Carlos Duenhas Monreal, Andréia Conceição Milan Brochado Antoniolli-Silva, Dênis Pires de Lima, Candida Aparecida Leite Kassuya, Adilson Beatriz, Rodrigo Juliano Oliveira
Chemotherapy is one of the major approaches for the treatment of cancer. Therefore, the development of new chemotherapy drugs is an important aspect of medicinal chemistry. Chemotherapeutic agents include isocoumarins, which are privileged structures with potential antitumoral activity. Herein, a new 3-substituted isocoumarin was synthesized from 2-iodo-3,5-dimethoxy-benzoic acid and oct-1-yne in a cross-coupling Sonogashira reaction followed by a copper iodide-catalyzed intramolecular cyclization as key step using MeOH/Et3N as the solvent system...
July 2017: Genetics and Molecular Biology
Frederico Schmitt Kremer, Alan John Alexander McBride, Luciano da Silva Pinto
The introduction of next-generation sequencing (NGS) had a significant effect on the availability of genomic information, leading to an increase in the number of sequenced genomes from a large spectrum of organisms. Unfortunately, due to the limitations implied by the short-read sequencing platforms, most of these newly sequenced genomes remained as "drafts", incomplete representations of the whole genetic content. The previous genome sequencing studies indicated that finishing a genome sequenced by NGS, even bacteria, may require additional sequencing to fill the gaps, making the entire process very expensive...
July 2017: Genetics and Molecular Biology
Maha S Al-Shammari, Rhaya Al-Ali, Nader Al-Balawi, Mansour S Al-Enazi, Ali A Al-Muraikhi, Fadi N Busaleh, Ali S Al-Sahwan, Abdulmohsen Al-Elq, Awatif N Al-Nafaie, Jesu Francis Borgio, Sayed AbdulAzeez, Amein Al-Ali, Sadananda Acharya
Genome-wide association studies have identified several loci associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D). Polymorphisms within the KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) gene are consistently associated with T2D in a number of populations. The current study was undertaken to evaluate the association of 3 polymorphisms of KCNQ1 (rs2237892, rs151290 and rs2237895) with T2D and/or CVD. Patients diagnosed with either T2D (320 patients), CVD (250 patients) or both (60 patients) and 516 healthy controls were genotyped by TaqMan assay run on a real time PCR thermocycler...
July 2017: Genetics and Molecular Biology
Kunneng Zhou, Jiafa Xia, Yuanlei Wang, Tingchen Ma, Zefu Li
Chloroplast development and chlorophyll (Chl) biosynthesis in plants are regulated by many genes, but the underlying molecular mechanisms remain largely elusive. We isolated a rice mutant named yss2 (young seedling stripe2) with a striated seedling phenotype beginning from leaf 2 of delayed plant growth. The mutant developed normal green leaves from leaf 5, but reduced tillering and chlorotic leaves and panicles appeared later. Chlorotic yss2 seedlings have decreased pigment contents and impaired chloroplast development...
July 2017: Genetics and Molecular Biology
Yongheng Duan, Sheng Lin, Lichun Xie, Kaifeng Zheng, Shiguo Chen, Hui Song, Xuchun Zeng, Xueying Gu, Heyun Wang, Linghua Zhang, Hao Shao, Wenxu Hong, Lijie Zhang, Shan Duan
X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members...
July 2017: Genetics and Molecular Biology
Gokce Celikyapi Erdem, Sule Erdemir, Irem Abaci, Asli K Kirectepe Aydin, Elif Everest, Eda Tahir Turanli
The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spliced MEFV transcript in leukocytes of FMF patients provoked us to test the role of exon methylation in alternative splicing using inflammatory cell culture models...
July 2017: Genetics and Molecular Biology
Patrícia Ianella, Maria do Socorro Maués Albuquerque, Samuel Rezende Paiva, Andréa Alves do Egito, Leonardo Daniel Almeida, Fabiana T P S Sereno, Luiz Felipe Ramos Carvalho, Arthur da Silva Mariante, Concepta Margaret McManus
The first horses were brought to Brazil by the colonizers after 1534. Over the centuries, these animals evolved and adapted to local environmental conditions usually unsuitable for exotic breeds, thereby originating locally adapted Brazilian breeds. The present work represents the first description of maternal genetic diversity in these horse breeds based on D-loop sequences. A D-Loop HSV-I fragment of 252 bp, from 141 horses belonging to ten Brazilian breeds / genetic groups (locally adapted and specialized breeds) were analysed...
July 2017: Genetics and Molecular Biology
María Gloria Solís-Guzmán, Gerardo Argüello-Astorga, José López-Bucio, León Francisco Ruiz-Herrera, Joel López-Meza, Lenin Sánchez-Calderón, Yazmín Carreón-Abud, Miguel Martínez-Trujillo
Proteins of the Split ends (Spen) family are characterized by an N-terminal domain, with one or more RNA recognition motifs and a SPOC domain. In Arabidopsis thaliana, the Spen protein FPA is involved in the control of flowering time as a component of an autonomous pathway independent of photoperiod. The A. thaliana genome encodes another gene for a putative Spen protein at the locus At4g12640, herein named AtSpen2. Bioinformatics analysis of the AtSPEN2 SPOC domain revealed low sequence similarity with the FPA SPOC domain, which was markedly lower than that found in other Spen proteins from unrelated plant species...
July 2017: Genetics and Molecular Biology
Fernanda Silva Medeiros, Taciana Furtado de Mendonça, Katiuscia Araújo de Miranda Lopes, Laís Medeiros da Câmara França, Andreia Soares da Silva, Luydson Richardson Silva Vasconcelos, Maria do Carmo Valgueiro Costa de Oliveira, Ana Cláudia Mendonça Dos Anjos, Betânia Lucena Domingues Hatzlhofer, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Patrícia Moura, Maria do Socorro de Mendonça Cavalcanti
Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0...
July 2017: Genetics and Molecular Biology
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...
July 2017: Genetics and Molecular Biology
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 2017: Genetics and Molecular Biology
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 2017: Genetics and Molecular Biology
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 2017: Genetics and Molecular Biology
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 2017: Genetics and Molecular Biology
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 2017: Genetics and Molecular Biology
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)...
July 2017: Genetics and Molecular Biology
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).
July 2017: Genetics and Molecular Biology
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
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
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