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https://www.readbyqxmd.com/read/28549201/cytogenetic-aspects-of-a-canine-breast-carcinosarcoma-a-case-report
#1
C S D Morais, P R A M Affonso, J A Bitencourt, A A Wenceslau
This study searched a rare and aggressive type of cancer in dogs and humans, the breast carcinosarcoma. Both clinical and pathological traits of mammary carcinosarcomas in dogs are similar to humans, such as infrequent occurrence, fast tumor growth, and unfavorable prognosis when compared to carcinomas. Other possible alterations include chromosomal abnormalities that can be useful for the identification of tumoral cells and diagnosis. The aim of this study was to compare the chromosomal features of peripheral lymphocytes and tumor cells in a mammary carcinosarcoma of a 14-year-old female Poodle...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28547909/identification-and-expression-of-conserved-and-novel-rna-variants-of-medaka-pax6b-gene
#2
Tiansheng Chen, Benzion Cavari, Manfred Schartl, Yunhan Hong
Gene duplication is a major driving force of evolution. How gene duplicates have evolved remains a mystery. A highly conserved gene such as Pax6 is an ideal model to study functional conservation and divergence via comparisons among diverse organisms. One pax6 gene has been characterized in the Japanese medaka (Oryzias latipes), which is annotated as pax6b on chromosome 3. Here, we report that Medaka pax6b is homolog to Pax6 of mammals in sequence, chromosomal synteny, and genomic organization. Cloning and sequencing led to the identification of up to 43 pax6b RNA variants predicting six protein isoforms, 22 of which are similar to those reported in other organisms and 21 represent novel RNA variants...
May 26, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28545147/chromosome-divergence-during-evolution-of-the-tetraploid-clawed-frogs-xenopus-mellotropicalis-and-xenopus-epitropicalis-as-revealed-by-zoo-fish
#3
Martin Knytl, Ondřej Smolík, Svatava Kubíčková, Tereza Tlapáková, Ben J Evans, Vladimír Krylov
Whole genome duplication (WGD) generates new species and genomic redundancy. In African clawed frogs of the genus Xenopus, this phenomenon has been especially important in that (i) all but one extant species are polyploid and (ii) whole genome sequences of some species provide an evidence for genomic rearrangements prior to or after WGD. Within Xenopus in the subgenus Silurana, at least one allotetraploidization event gave rise to three extant tetraploid (2n = 4x = 40) species-Xenopus mellotropicalis, X. epitropicalis, and X...
2017: PloS One
https://www.readbyqxmd.com/read/28542163/two-extended-haplotype-blocks-are-associated-with-adaptation-to-high-altitude-habitats-in-east-african-honey-bees
#4
Andreas Wallberg, Caspar Schöning, Matthew T Webster, Martin Hasselmann
Understanding the genetic basis of adaption is a central task in biology. Populations of the honey bee Apis mellifera that inhabit the mountain forests of East Africa differ in behavior and morphology from those inhabiting the surrounding lowland savannahs, which likely reflects adaptation to these habitats. We performed whole genome sequencing on 39 samples of highland and lowland bees from two pairs of populations to determine their evolutionary affinities and identify the genetic basis of these putative adaptations...
May 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28539737/preclinical-toxicological-evaluation-of-idm01-the-botanical-composition-of-4-hydroxyisoleucine-and-trigonelline-based-standardized-fenugreek-seed-extract
#5
Pallavi O Deshpande, Vishwaraman Mohan, Prasad Arvind Thakurdesai
OBJECTIVE: To evaluate acute oral toxicity (AOT), subchronic (90-day repeated dose) toxicity, mutagenicity, and genotoxicity potential of IDM01, the botanical composition of 4-hydroxyisoleucine- and trigonelline-based standardized fenugreek (Trigonella foenum-graecum L) seed extract in laboratory rats. MATERIALS AND METHODS: The AOT and subchronic (90-day repeated dose) toxicity were evaluated using Sprague-Dawley rats as per the Organisation for Economic Co-operation and Development (OECD) guidelines No...
April 2017: Pharmacognosy Research
https://www.readbyqxmd.com/read/28539298/-fine-needle-aspiration-cell-pathology-for-diagnosis-of-intrathoracic-extramedullary-hematopoiesis-presenting-as-a-posterior-mediastinal-tumor-a-case-report
#6
Jie Zhou, Tong Zhao, Min Deng
To study the feasibility of in a A patient with extramedullary hematopoiesis presenting as a posterior mediastinal tumor underwent fine-needle aspiration for cell pathology diagnosis. The primary locus of a posterior mediastinal extramedullary hematopoiesis was examined with Papanicolaou staining and HE staining, and the expressions of cytokeratin, epithelial membrane antigen (EMA), terminal deoxynucleotidyl transferase, CD3, CD20, anaplastic lymphoma kinase, CD34, CD235a, myeloperoxidase, CD61, P53, CD30, S-100, CD1a, and Ki-67 with immunohistochemistry...
May 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28538144/probing-the-potential-role-of-non-b-dna-structures-at-yeast-meiosis-specific-dna-double-strand-breaks
#7
Rucha Kshirsagar, Krishnendu Khan, Mamata V Joshi, Ramakrishna V Hosur, K Muniyappa
A plethora of evidence suggests that different types of DNA quadruplexes are widely present in the genome of all organisms. The existence of a growing number of proteins that selectively bind and/or process these structures underscores their biological relevance. Moreover, G-quadruplex DNA has been implicated in the alignment of four sister chromatids by forming parallel guanine quadruplexes during meiosis; however, the underlying mechanism is not well defined. Here we show that a G/C-rich motif associated with a meiosis-specific DNA double-strand break (DSB) in Saccharomyces cerevisiae folds into G-quadruplex, and the C-rich sequence complementary to the G-rich sequence forms an i-motif...
May 23, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28537542/malonate-degradation-in-acinetobacter-baylyi-adp1-operon-organization-and-regulation-by-mdcr
#8
Julie L Stoudenmire, Alicia L Schmidt, Melissa P Tumen-Velasquez, Kathryn T Elliott, Nicole S Laniohan, S Walker Whitley, Nickolaus R Galloway, Melesse Nune, Michael West, Cory Momany, Ellen L Neidle, Anna C Karls
Transcriptional regulators in the LysR or GntR families are typically encoded in the genomic neighbourhood of bacterial genes for malonate degradation. While these arrangements have been evaluated using bioinformatics methods, experimental studies demonstrating co-transcription of predicted operons were lacking. Here, transcriptional regulation was characterized for a cluster of mdc genes that enable a soil bacterium, Acinetobacter baylyi ADP1, to use malonate as a carbon source. Despite previous assumptions that the mdc-gene set forms one operon, our studies revealed distinct promoters in two different regions of a nine-gene cluster...
May 25, 2017: Microbiology
https://www.readbyqxmd.com/read/28536596/sorghum-landrace-collections-from-cooler-regions-of-the-world-exhibit-magnificent-genetic-differentiation-and-early-season-cold-tolerance
#9
Frank Maulana, Dilooshi Weerasooriya, Tesfaye Tesso
Cold temperature is an important abiotic stress affecting sorghum production in temperate regions. It reduces seed germination, seedling emergence and seedling vigor thus limiting the production of the crop both temporally and spatially. The objectives of this study were (1) to assess early season cold temperature stress response of sorghum germplasm from cooler environments and identify sources of tolerance for use in breeding programs, (2) to determine population structure and marker-trait association among these germplasms for eventual development of marker tools for improving cold tolerance...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28536594/whole-genome-identification-and-expression-pattern-of-the-vicinal-oxygen-chelate-family-in-rapeseed-brassica-napus-l
#10
Yu Liang, Neng Wan, Zao Cheng, Yufeng Mo, Baolin Liu, Hui Liu, Nadia Raboanatahiry, Yongtai Yin, Maoteng Li
Vicinal oxygen chelate proteins (VOC) are members of the metalloenzyme superfamily, which plays roles in many biological reactions. Some members of the VOC superfamily have been systematically characterized but not in Brassica napus. In this study, 38 VOC genes were identified based on their conserved domains. The present results revealed that most of the BnaVOC genes have few introns, and all contained the typical VOC structure of βαβββ modules. The BnaVOC genes are distributed unevenly across 15 chromosomes in B...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28536593/molecular-characterization-and-expression-profiling-of-brachypodium-distachyon-l-cystatin-genes-reveal-high-evolutionary-conservation-and-functional-divergence-in-response-to-abiotic-stress
#11
Saminathan Subburaj, Dong Zhu, Xiaohui Li, Yingkao Hu, Yueming Yan
Cystatin is a class of proteins mainly involved in cysteine protease inhibition and plant growth and development, as well as tolerance under various abiotic stresses. In this study, we performed the first comprehensive analysis of the molecular characterization and expression profiling in response to various abiotic stresses of the cystatin gene family in Brachypodium distachyon, a novel model plant for Triticum species with huge genomes. Comprehensive searches of the Brachypodium genome database identified 25 B...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#12
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28535377/mechanism-of-ska-recruitment-by-ndc80-complexes-to-kinetochores
#13
Paweł Ł Janczyk, Katarzyna A Skorupka, John G Tooley, Daniel R Matson, Cortney A Kestner, Thomas West, Owen Pornillos, P Todd Stukenberg
Yeast use the ring-shaped Dam1 complex to slide down depolymerizing microtubules to move chromosomes, but current models suggest that other eukaryotes do not have a sliding ring. We visualized Ndc80 and Ska complexes on microtubules by electron microscopic tomography to identify the structure of the human kinetochore-microtubule attachment. Ndc80 recruits the Ska complex so that the V shape of the Ska dimer interacts along protofilaments. We identify a mutant of the Ndc80 tail that is deficient in Ska recruitment to kinetochores and in orienting Ska along protofilaments in vitro...
May 22, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28535251/mms1-binds-to-g-rich-regions-in-saccharomyces-cerevisiae-and-influences-replication-and-genome-stability
#14
Katharina Wanzek, Eike Schwindt, John A Capra, Katrin Paeschke
The regulation of replication is essential to preserve genome integrity. Mms1 is part of the E3 ubiquitin ligase complex that is linked to replication fork progression. By identifying Mms1 binding sites genome-wide in Saccharomyces cerevisiae we connected Mms1 function to genome integrity and replication fork progression at particular G-rich motifs. This motif can form G-quadruplex (G4) structures in vitro. G4 are stable DNA structures that are known to impede replication fork progression. In the absence of Mms1, genome stability is at risk at these G-rich/G4 regions as demonstrated by gross chromosomal rearrangement assays...
May 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28535199/genotype-phenotype-correlation-in-patients-with-isovaleric-acidemia-comparative-structural-modelling-and-computational-analysis-of-novel-variants
#15
Osama K Zaki, George Priya Doss C, Salsabil A Ali, Ghadeer G Murad, Shaima A Elashi, Maryam Sa Ebnou, D Thirumal Kumar, Ola Khalifa, Radwa Gamal, Heba S A El Abd, Bilal N Nasr, Hatem Zayed
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different variants: five were missense variants (c.1193G>A; p. R398Q, c.1207T>A; p. Y403N, c.872C>T; p...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534981/loss-of-csmd1-expression-disrupts-mammary-duct-formation-while-enhancing-proliferation-migration-and-invasion
#16
Mohamed Kamal, Deborah L Holliday, Ewan E Morrison, Valerie Speirs, Carmel Toomes, Sandra M Bell
The CUB and sushi multiple domains 1 (CSMD1) gene maps to chromosome 8p23, a region deleted in many cancers. Loss of CSMD1 expression is associated with poor prognosis in breast cancer suggesting that it acts as a tumour suppressor in this cancer. However, the function of CSMD1 is largely unknown. Herein, we investigated CSMD1 functions in cell line models. CSMD1 expression was suppressed in MCF10A and LNCaP cells using short hairpin RNA. Functional assays were performed focusing on the 'normal' MCF10A cell line...
May 22, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#17
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533904/-this-is-where-it-all-started-the-pivotal-role-of-plc%C3%AE-within-the-sophisticated-process-of-mammalian-reproduction-a-systemic-review
#18
Itai Gat, Raoul Orvieto
Mammalian reproduction is one of the most complex and fascinating biological phenomenon, which aims to transfer maternal and paternal genetic material to the next generation. At the end of oogenesis and spermatogenesis, both haploid gametes contain a single set of chromosomes ready to form the zygote, the first cell of the newly developing individual. The mature oocyte and spermatozoa remain in a quiescent state, during which the oocyte is characterized by nuclear and cytoplasmic arrest, while the spermatozoa necessitates further maturation within the epididymis and female reproductive track prior to egg fertilization...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28533817/mosaicism-for-structural-non-centromeric-autosomal-rearrangements-in-disease-defined-carriers-sex-differences-in-the-rearrangements-profile-and-maternal-age-distributions
#19
REVIEW
Natalia V Kovaleva, Philip D Cotter
BACKGROUND: Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of this kind of mosaicism, such as population rate, cytogenetic profile of Reas involved, maternal age distribution, and sex (male to female) ratio among Rea carriers. The objectives of the present study were: (i) determination of the Rea profile in clinically affected individuals, (ii) comparative analysis of the cytogenetic profile and involvement of single chromosomes to rearrangements in affected and previously reported asymptomatic carriers, (iii) analysis of the male/female ratio in carriers of various types of Rea, and, (iv) examination of parental ages distributions according to carriers' sex...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28532390/comparative-genomics-of-eucalyptus-and-corymbia-reveals-low-rates-of-genome-structural-rearrangement
#20
J B Butler, R E Vaillancourt, B M Potts, D J Lee, G J King, A Baten, M Shepherd, J S Freeman
BACKGROUND: Previous studies suggest genome structure is largely conserved between Eucalyptus species. However, it is unknown if this conservation extends to more divergent eucalypt taxa. We performed comparative genomics between the eucalypt genera Eucalyptus and Corymbia. Our results will facilitate transfer of genomic information between these important taxa and provide further insights into the rate of structural change in tree genomes. RESULTS: We constructed three high density linkage maps for two Corymbia species (Corymbia citriodora subsp...
May 22, 2017: BMC Genomics
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