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Genetics and Molecular Biology

Paula Burchardt, Tatiana T Souza-Chies, Olivier Chauveau, Sidia M Callegari-Jacques, Lauís Brisolara-Corrêa, Camila Dellanhese Inácio, Lilian Eggers, Sonja Siljak-Yakovlev, José Marcello Salabert de Campos, Eliane Kaltchuk-Santos
Sisyrinchium is the largest genus of Iridaceae in the Americas and has the greatest amount of cytological data available. This study aimed at investigating how genomes evolved in this genus. Chromosome number, genome size and altitude from species of sect. Viperella were analyzed in a phylogenetic context. Meiotic and pollen analyses were performed to assess reproductive success of natural populations, especially from those polyploid taxa. Character optimizations revealed that the common ancestor of sect. Viperella was probably diploid (2n = 2x =18) with two subsequent polyplodization events...
March 1, 2018: Genetics and Molecular Biology
Karen Luisa Haag
Symbioses are ubiquitous and have played an influential role in the evolution of life on Earth. Genomic studies are now revealing a huge diversity of associations among hosts and their microbiotas, allowing us to characterize their complex ecological and evolutionary dynamics. The different transmission modes and the asynchronous cell proliferation of the numerous symbionts associated with one host generate a genomic conflict ought to be solved. Two disputing views have been used to model and predict the outcome of such conflicts...
March 1, 2018: Genetics and Molecular Biology
José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation...
February 19, 2018: Genetics and Molecular Biology
Luciana Mara Fé Gonçalves, Maria de Nazaré Paula da Silva, Adalberto Luis Val, Vera Maria Fonseca de Almeida-Val
Two Amazonian closely related tetras - cardinal Paracheirodon axelrodi and green neon P. simulans - were artificially acclimatized to environmental chambers mimicking future climate change scenarios (mild, moderate and extreme), using a microcosm facility. P. simulans survived (100%) to all scenarios after 30 days exposure, while P. axelrodi presented decreasing survival percentages according to environmental severity. These differences may be the reflection of distinct natural acclimatization to microhabitats between the species, which differ in thermal conditions...
February 19, 2018: Genetics and Molecular Biology
Bent Müller, Johannes Boltze, Ivonne Czepezauer, Volker Hesse, Arndt Wilcke, Holger Kirsten
An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by using a differential allelic expression assay. In total, 12 SNPs previously associated with dyslexia and related phenotypes were suitable for analysis. Transcripts corresponding to four SNPs were sufficiently expressed in 28 cell lines originating from controls and a family affected by dyslexia...
February 19, 2018: Genetics and Molecular Biology
Adriana Cruvinel-Carloni, Letícia Yamane, Cristovam Scapulatempo-Neto, Denise Guimarães, Rui Manuel Reis
Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features...
February 19, 2018: Genetics and Molecular Biology
Rodrigo Juliano Oliveira, Naiara da Cruz Leite Santos, João Renato Pesarini, Beatriz Carneiro de Oliveira, Claudia Rodrigues Berno, Flávio Henrique Souza de Araújo, Ingridhy Ostaciana Maia Freitas da Silveira, Raquel Oliveira Nascimento, Andréia Conceição Milan Brochado Antoniolli-Silva, Antônio Carlos Duenhas Monreal, Adilson Beatriz, Dênis Pires de Lima, Roberto da Silva Gomes
The increased incidence of cancer and its high treatment costs have encouraged the search for new compounds to be used in adjuvant therapies for this disease. This study discloses the synthesis of (Z)-4-((1,5-dimethyl-3-oxo-2-phenyl-2,3dihydro-1H-pyrazol-4-yl) amino)-4-oxobut-2-enoic acid (IR-01) and evaluates not only the action of this compound on genetic integrity, increase in splenic phagocytosis and induction of cell death but also its effects in combination with the commercial chemotherapeutic agents doxorubicin, cisplatin and cyclophosphamide...
February 19, 2018: Genetics and Molecular Biology
Rafael Kretschmer, Thays Duarte de Oliveira, Ivanete de Oliveira Furo, Fabio Augusto Oliveira Silva, Ricardo José Gunski, Analía Del Valle Garnero, Marcelo de Bello Cioffi, Edivaldo Herculano Corrêa de Oliveira, Thales Renato Ochotorena de Freitas
An extensive karyotype variation is found among species belonging to the Columbidae family of birds (Columbiformes), both in diploid number and chromosomal morphology. Although clusters of repetitive DNA sequences play an important role in chromosomal instability, and therefore in chromosomal rearrangements, little is known about their distribution and amount in avian genomes. The aim of this study was to analyze the distribution of 11 distinct microsatellite sequences, as well as clusters of 18S rDNA, in nine different Columbidae species, correlating their distribution with the occurrence of chromosomal rearrangements...
February 19, 2018: Genetics and Molecular Biology
André Castagna Wortmann, Daniel Simon, Luiz Edmundo Mazzoleni, Guilherme Becker Sander, Carlos Fernando de Magalhães Francesconi, Débora Dreher Nabinger, Camila Schultz Grott, Tássia Flores Rech, Felipe Mazzoleni, Vagner Ricardo Lunge, Laura Renata de Bona, Tobias Cancian Milbradt, Themis Reverbel da Silveira
Functional dyspepsia and lactose intolerance (adult-type hypolactasia, ATH) are common conditions that may coexist or even be confounded. Their clinical presentation can be similar, however, lactose intolerance does not form part of the diagnostic investigation of functional dyspepsia. Studies on the association between functional dyspepsia and ATH are scarce. This study aimed to evaluate whether ATH is associated with symptoms of functional dyspepsia. Patients fulfilling the Rome III diagnostic criteria for functional dyspepsia underwent genetic testing for ATH...
January 22, 2018: Genetics and Molecular Biology
LiNa Gan, WeiYun Qin, Sen Wu, ShengLong Wu, WenBin Bao
MYD88 plays an important role in the immune response against infections. To analyze MYD88 gene expression during different stages of pig development, we used real-time PCR. MYD88 was seen expressed in all tissues examined. MYD88 expression in spleen, lungs, and thymus reached its highest value from 7 to 14 days of age and decreased thereafter. Expression in lymph nodes was high until 28 days of age and then it declined after weaning, with stable low levels in adult pigs. MYD88 expression was high before 35 days of age in the small intestine (duodenum, jejunum, and ileum), where it reached its highest value from 7 to 14 days of age...
January 22, 2018: Genetics and Molecular Biology
Asmat Ullah, Ajab Gul, Muhammad Umair, Irfanullah, Farooq Ahmad, Abdul Aziz, Abdul Wali, Wasim Ahmad
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1-q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p...
January 22, 2018: Genetics and Molecular Biology
Dong Yan, Xiao-Hui Liang, Wei Ding, Xin-Jian Xu, Xi-Yan Wang
This study aimed to determine the association between the polymorphisms and haplotypes in the xeroderma pigmentosum group D (XPD) gene and the risk of pancreatic cancer in the Chinese Han population. SNaPshot was used for genotyping six SNP sites of the XPD gene. Comparisons of the correlations between different genotypes in combination with smoking and the susceptibility to pancreatic cancer were performed. Individual pancreatic cancer risk in patients who carry mutant C alleles (AC, CC, and AC+CC) at rs13181 increased (p < 0...
December 18, 2017: Genetics and Molecular Biology
Maria Eguiluz, Priscila Mary Yuyama, Frank Guzman, Nureyev Ferreira Rodrigues, Rogerio Margis
Plinia trunciflora is a Brazilian native fruit tree from the Myrtaceae family, also known as jaboticaba. This species has great potential by its fruit production. Due to the high content of essential oils in their leaves and of anthocyanins in the fruits, there is also an increasing interest by the pharmaceutical industry. Nevertheless, there are few studies focusing on its molecular biology and genetic characterization. We herein report the complete chloroplast (cp) genome of P. trunciflora using high-throughput sequencing and compare it to other previously sequenced Myrtaceae genomes...
October 2017: Genetics and Molecular Biology
Yongjun Shu, Wei Li, Jinyue Zhao, Sijia Zhang, Hanyun Xu, Ying Liu, Changhong Guo
Alfalfa (Medicago sativa L.) is an important perennial forage, with high nutritional value, which is widely grown in the world. Because of low freezing tolerance, its distribution and production are threatened and limited by winter weather. To understand the complex regulation mechanisms of freezing tolerance in alfalfa, we performed transcriptome sequencing analysis under cold (4 °C) and freezing (-8 °C) stresses. More than 66 million reads were generated, and we identified 5767 transcripts differentially expressed in response to cold and/or freezing stresses...
October 2017: Genetics and Molecular Biology
Ana Sheila Cypriano, Gilda Alves, Antonio Augusto Ornellas, José Scheinkman, Renata Almeida, Luciano Scherrer, Claudia Lage
Susceptibility to cancer ensues in individuals carrying malfunctioning DNA repair mechanisms. The impact of Single Nucleotide Polymorphisms (SNPs) in key DNA repair mechanisms on risk for prostate cancer was investigated in this case-control study. Samples consisted of 110 patients with confirmed prostate cancer and 200 unaffected men, from Rio de Janeiro, Brazil. XPD/Lys751Gln (rs13181), APEX1/Asp148Glu (rs1130409), and RAD51/G135C (rs1801320) SNPs were analyzed by PCR-RFLP. Allelic and genotypic frequencies were calculated and compared by Chi-Square test...
October 2017: Genetics and Molecular Biology
Cláudia Carolina Silva Evangelista, Giovanna Vieira Guidelli, Gustavo Borges, Thais Fenz Araujo, Tiago Alves Jorge de Souza, Ubiraci Pereira da Costa Neves, Alan Tunnacliffe, Tiago Campos Pereira
The molecular basis of anhydrobiosis, the state of suspended animation entered by some species during extreme desiccation, is still poorly understood despite a number of transcriptome and proteome studies. We therefore conducted functional screening by RNA interference (RNAi) for genes involved in anhydrobiosis in the holo-anhydrobiotic nematode Panagrolaimus superbus. A new method of survival analysis, based on staining, and proof-of-principle RNAi experiments confirmed a role for genes involved in oxidative stress tolerance, while a novel medium-scale RNAi workflow identified a further 40 anhydrobiosis-associated genes, including several involved in proteostasis, DNA repair and signal transduction pathways...
October 2017: Genetics and Molecular Biology
Deming Xue, Yang Xue, Zhipeng Niu, Xueqiang Guo, Cunshuan Xu
14-3-3 proteins play a vital part in the regulation of cell cycle and apoptosis as signaling integration points. During liver regeneration, the quiescent hepatocytes go through hypertrophy and proliferation to restore liver weight. Therefore, we speculated that 14-3-3 proteins regulate the progression of liver regeneration. In this study, we analyzed the expression patterns of 14-3-3 proteins during liver regeneration of rat to provide an insight into the regenerative mechanism using western blotting. Only four isoforms (γ, ε, σ and τ/θ) of the 14-3-3 proteins were expressed in regenerative liver after partial hepatectomy (PH)...
October 2017: Genetics and Molecular Biology
Luz Elena Palma-Cano, Emilio J Córdova, Lorena Orozco, Angélica Martínez-Hernández, Miguel Cid, Irene Leal-Berumen, Angel Licón-Trillo, Ruth Lechuga-Valles, Mauricio González-Ponce, Everardo González-Rodríguez, Verónica Moreno-Brito
The GSTT1 and GSTM1 genes are key molecules in cellular detoxification. Null variants in these genes are associated with increase susceptibility to developing different types of cancers. The aim of this study was to determine the prevalence of GSTT1 and GSTM1 null genotypes in Mestizo and Amerindian individuals from the Northwestern region of Mexico, and to compare them with those reported worldwide. GSTT1 and GSTM1 null variants were genotyped by multiplex PCR in 211 Mestizos and 211 Amerindian individuals...
October 2017: Genetics and Molecular Biology
Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-Asl
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients...
October 2017: Genetics and Molecular Biology
Qin Zhou, Aidong Wang, Ruijun Duan, Jun Yan, Gang Zhao, Eviatar Nevo, Guoxiong Chen
The naturally occurring wild barley mutant eibi1/hvabcg31 suffers from severe water loss due to the permeable leaf cuticle. Eibi1/HvABCG31 encodes a full ATP-binding cassette (ABC) transporter, HvABCG31, playing a role in cutin deposition in the elongation zone of growing barley leaves. The eibi1 allele has pleiotropic effects on the appearance of leaves, plant stature, fertility, spike and grain size, and rate of germination. Comparative transcriptome profile of the leaf elongation zone of the eibi1 mutant as well as its isogenic wild type showed that various pathogenesis-related genes were up-regulated in the eibi1 mutant...
October 2017: Genetics and Molecular Biology
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