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Current Genomics

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https://www.readbyqxmd.com/read/29755293/role-of-sequence-variations-in-ahr-gene-towards-modulating-smoking-induced-lung-cancer-susceptibility-in-north-indian-population-a-multiple-interaction-analysis
#1
Sneha Budhwar, Charu Bahl, Siddharth Sharma, Navneet Singh, Digambar Behera
Background: AhR, a ubiquitously expressed ligand-activated transcription factor, upon its encounter with the foreign ligands activates the transcriptional machinery of genes encoding for bio-transformation enzymes like CYP1A1 hence, mediating the metabolism of Poly aromatic hydrocarbons and nitrosamines which account for the maximally found carcinogen in cigarette smoke. Polymorphic variants of AhR play a significant role and are held responsible for disposing the individuals with greater chances of acquiring lung cancer...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29755292/decoding-common-features-of-neurodegenerative-disorders-from-differentially-expressed-genes-to-pathways
#2
Rabia Habib, Nighat Noureen, Neha Nadeem
Background: Neurodegeneration is a progressive/irreversible loss of neurons, building blocks of our nervous system. Their degeneration gradually collapses the entire structural and functional system manifesting in myriads of clinical disorders categorized as Neurodegenerative Disorders (NDs) such as Alzheimer's Disease, (AD), Parkinson's Disease (PD), Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). NDs are characterized by a puzzling interplay of molecular and cellular defects affecting subset of neuronal populations in specific affected brain areas...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29755291/transcription-factor-co-expression-networks-of-adipose-rna-seq-data-reveal-regulatory-mechanisms-of-obesity
#3
Ruta Skinkyte-Juskiene, Lisette J A Kogelman, Haja N Kadarmideen
Background: Transcription Factors (TFs) control actuation of genes in the genome and are key mediators of complex processes such as obesity. Master Regulators (MRs) are the genes at the top of a regulation hierarchy which regulate other genes. Objective: To elucidate clusters of highly co-expressed TFs (modules), involved pathways, highly inter-connected TFs (hub-TFs) and MRs leading to obesity and leanness, using porcine model for human obesity. Methods: We identified 817 expressed TFs in RNA-Sequencing dataset representing extreme degrees of obesity (DO; lean, obese)...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29755290/retromer-dysfunction-and-neurodegenerative-disease
#4
REVIEW
Christiane Reitz
In recent years, genomic, animal and cell biology studies have implicated deficiencies in retromer-mediated trafficking of proteins in an increasing number of neurodegenerative diseases including Alzheimer's Disease (AD), Parkinson's Disease (PD) and Frontotemporal Lobar Degener-ation (FTLD). The retromer complex, which is highly conserved across all eukaryotes, regulates the sorting of transmembrane proteins out of endo-somes to the cell surface or to the trans-Golgi network. Within retromer, cargo selection and binding are performed by a trimer of the Vps26, Vps29 and Vps35 proteins, named the "Cargo-Selective Complex (CSC)"...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29755289/decoding-the-emerging-patterns-exhibited-in-non-coding-rnas-characteristic-of-lung-cancer-with-regard-to-their-clinical-significance
#5
Laura Sonea, Mihail Buse, Diana Gulei, Anca Onaciu, Ioan Simon, Cornelia Braicu, Ioana Berindan-Neagoe
Lung cancer continues to be the leading topic concerning global mortality rate caused by can-cer; it needs to be further investigated to reduce these dramatic unfavorable statistic data. Non-coding RNAs (ncRNAs) have been shown to be important cellular regulatory factors and the alteration of their expression levels has become correlated to extensive number of pathologies. Specifically, their expres-sion profiles are correlated with development and progression of lung cancer, generating great interest for further investigation...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29755288/roles-of-perilipins-in-diseases-and-cancers
#6
Pengpeng Zhang, Lian Meng, Lingxie Song, Juan Du, Shutong Du, Wenwen Cui, Chunxia Liu, Feng Li
Perilipins, an ancient family of lipid droplet-associated proteins, are embedded in a phospho-lipid monolayer of intracellular lipid droplets. The core of lipid droplets is composed of neutral fat, which mainly includes triglyceride and cholesterol ester. Perilipins are closely related to the function of lipid droplets, and they mediate lipid metabolism and storage. Therefore, perilipins play an important role in the development of obesity, diabetes, cancer, hepatic diseases, atherosclerosis, and carcinoma, which are caused by abnormal lipid metabolism...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29606911/a-girl-with-10-mb-distal-xp-deletion-arising-from-maternal-pericentric-inversion-clinical-data-and-molecular-characterization
#7
Ioannis Papoulidis, Annalisa Vetro, Vassilis Paspaliaris, Monika Ziegler, Katharina Kreskowski, George Daskalakis, Vasilios Papadopoulos, Themistoklis Dagklis, Thomas Liehr, Loretta Thomaidis, Emmanouil Manolakos
Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chromosome inactivation phenomenon. Case report: A female patient with a 10Mb distal Xp deletion and an Xq duplication, showing mild intellectual disability, is described in this report...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606910/a-postgenomic-perspective-on-molecular-cytogenetics
#8
Henry H Heng, Steven D Horne, Sophia Chaudhry, Sarah M Regan, Guo Liu, Batoul Y Abdallah, Christine J Ye
Background: The postgenomic era is featured by massive data collection and analyses from various large scale-omics studies. Despite the promising capability of systems biology and bioinformatics to handle large data sets, data interpretation, especially the translation of -omics data into clinical implications, has been challenging. Discussion: In this perspective, some important conceptual and technological limitations of current systems biology are discussed in the context of the ultimate importance of the genome beyond the collection of all genes...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606909/early-stages-of-xy-sex-chromosomes-differentiation-in-the-fish-hoplias-malabaricus-characiformes-erythrinidae-revealed-by-dna-repeats-accumulation
#9
Natália Lourenço de Freitas, Ahmed Basheer Hamid Al-Rikabi, Luiz Antonio Carlos Bertollo, Tariq Ezaz, Cassia Fernanda Yano, Ezequiel Aguiar de Oliveira, Terumi Hatanaka, Marcelo de Bello Cioffi
Background: Species with 'young' or nascent sex chromosomes provide unique opportunities to understand early evolutionary mechanisms (e.g. accumulation of repetitive sequences, cessation of recombination and gene loss) that drive the evolution of sex chromosomes. Among vertebrates, fishes exhibit highly diverse and a wide spectrum of sex-determining mechanisms and sex chromosomes, ranging from cryptic to highly differentiated ones, as well as, from simple to multiple sex chromosome systems...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606908/molecular-cytogenetic-analysis-of-one-african-and-five-asian-macaque-species-reveals-identical-karyotypes-as-in-mandrill
#10
Wiwat Sangpakdee, Alongkoad Tanomtong, Arunrat Chaveerach, Krit Pinthong, Vladimir Trifonov, Kristina Loth, Christiana Hensel, Thomas Liehr, Anja Weise, Xiaobo Fan
Background: The question how evolution and speciation work is one of the major interests of biology. Especially, genetic including karyotypic evolution within primates is of special interest due to the close phylogenetic position of Macaca and Homo sapiens and the role as in vivo models in medical research, neuroscience, behavior, pharmacology, reproduction and Acquired Immune Deficiency Syndrome (AIDS). Materials & Methods: Karyotypes of five macaque species from South East Asia and of one macaque species as well as mandrill from Africa were analyzed by high resolution molecular cytogenetics to obtain new insights into karyotypic evolution of old world monkeys...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606907/detecting-chromosome-condensation-defects-in-gulf-war-illness-patients
#11
Guo Liu, Christine J Ye, Saroj K Chowdhury, Batoul Y Abdallah, Steven D Horne, Denise Nichols, Henry H Heng
Background: Gulf War Illness (GWI) impacts 25-30% of gulf war veterans. Due to its heterogeneity in both etiology and symptoms, it has been challenging to establish the commonly accepted case definition for GWI. Equally challenging are the understanding of the general mechanism of GWI and the development of biomarkers useful for its clinical diagnosis and treatment. Objective: We have observed that chromosome condensation defects can be detected in GWI patients...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606906/small-supernumerary-marker-chromosome-may-provide-information-on-dosage-insensitive-pericentric-regions-in-human
#12
Ahmed B Hamid Al-Rikabi, Sona Pekova, Xioabo Fan, Tereza Jančušková, Thomas Liehr
Background: Cytogenetically visible chromosomal imbalances in humans are deleterious and adverse in the majority of the cases. However, healthy persons living with chromosomal imbalances in the range of several megabasepairs (Mbps) in size, like carriers of small Supernumerary Marker Chromosomes (sSMCs) exist. Materials & Methods: The identification of healthy sSMC carriers with euchromatic centromere-near (ECN) imbalances led to the following proposal: ECN-regions do not contain any dosage sensitive genes...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606905/polytene-chromosomes-a-portrait-of-functional-organization-of-the-drosophila-genome
#13
REVIEW
Tatyana Yu Zykova, Victor G Levitsky, Elena S Belyaeva, Igor F Zhimulev
This mini-review is devoted to the problem genetic meaning of main polytene chromosome structures - bands and interbands. Generally, densely packed chromatin forms black bands, moderately condensed regions form grey loose bands, whereas decondensed regions of the genome appear as interbands. Recent progress in the annotation of the Drosophila genome and epigenome has made it possible to compare the banding pattern and the structural organization of genes, as well as their activity. This was greatly aided by our ability to establish the borders of bands and interbands on the physical map, which allowed to perform comprehensive side-by-side comparisons of cytology, genetic and epigenetic maps and to uncover the association between the morphological structures and the functional domains of the genome...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606904/4q21-2q21-3-duplication-molecular-and-neuropsychological-aspects
#14
REVIEW
Ivan Y Iourov, Maria A Zelenova, Svetlana G Vorsanova, Victoria V Voinova, Yuri B Yurov
During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606903/mosaic-brain-aneuploidy-in-mental-illnesses-an-association-of-low-level-post-zygotic-aneuploidy-with-schizophrenia-and-comorbid-psychiatric-disorders
#15
REVIEW
Yuri B Yurov, Svetlana G Vorsanova, Irina A Demidova, Alexei D Kolotii, Ilia V Soloviev, Ivan Y Iourov
Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders. However, the role of somatic genome instability and mosaic genome variations in common mental illnesses is a matter of conjecture. Materials and Methods: To estimate the pathogenic burden of somatic chromosomal mutations, we determined the frequency of mosaic aneuploidy in autopsy brain tissues of subjects with schizophrenia and other psychiatric disorders (intellectual disability comorbid with autism spectrum disorders)...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606902/behavioral-variability-and-somatic-mosaicism-a-cytogenomic-hypothesis
#16
REVIEW
Svetlana G Vorsanova, Maria A Zelenova, Yuri B Yurov, Ivan Y Iourov
Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to a specific genomic change is made. Probably, the least appreciated genetic mechanism of debilitating neurobehavioral disorders is somatic mosaicism or the occurrence of genetically diverse (neuronal) cells in an individual's brain...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606901/editorial-molecular-cyto-post-genomics
#17
EDITORIAL
Yuri B Yurov, Ivan Y Iourov
No abstract text is available yet for this article.
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29491743/-leptomonas-pyrrhocoris-genomic-insight-into-parasite-s-physiology
#18
REVIEW
Anzhelika Butenko, Tamara da Silva Vieira, Alexander O Frolov, Fred R Opperdoes, Rodrigo P Soares, Alexei Yu Kostygov, Julius Lukeš, Vyacheslav Yurchenko
Background: Leptomonas pyrrhocoris is a parasite of the firebug Pyrrhocoris apterus. This flagellate has been recently proposed as a model species for studying different aspects of the biology of monoxenous trypanosomatids, including host - parasite interactions. During its life cycle L. pyrrhocoris never tightly attaches to the epithelium of the insect gut. In contrast, its dixenous relatives (Leishmania spp.) establish a stable infection via attachment to the intestinal walls of their insect hosts...
February 2018: Current Genomics
https://www.readbyqxmd.com/read/29491742/epigenetic-regulation-of-transcription-in-trypanosomatid-protozoa
#19
REVIEW
Santiago Martínez-Calvillo, Gabriela Romero-Meza, Juan C Vizuet-de-Rueda, Luis E Florencio-Martínez, Rebeca Manning-Cela, Tomás Nepomuceno-Mejía
The Trypanosomatid family includes flagellated parasites that cause fatal human diseases. Remarkably, protein-coding genes in these organisms are positioned in long tandem arrays that are transcribed polycistronically. However, the knowledge about regulation of transcription initiation and termination in trypanosomatids is scarce. The importance of epigenetic regulation in these processes has become evident in the last years, as distinctive histone modifications and histone variants have been found in transcription initiation and termination regions...
February 2018: Current Genomics
https://www.readbyqxmd.com/read/29491741/introgression-of-the-kinetoplast-dna-an-unusual-evolutionary-journey-in-trypanosoma-cruzi
#20
REVIEW
Nicolás Tomasini
Introduction: Phylogenetic relationships between different lineages of Trypanosoma cruzi, the agent of Chagas disease, have been controversial for several years. However, recent phylogenetic and phylogenomic analyses clarified the nuclear relationships among such lineages. However, incongruence between nuclear and kinetoplast DNA phylogenies has emerged as a new challenge. This incongruence implies several events of mitochondrial introgression at evolutionary level. However, the mechanism that gave origin to introgressed lineages is unknown...
February 2018: Current Genomics
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