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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/29232688/genotype-and-cell-specific-dynamics-of-tandem-repeat-patterns-in-aegilops-speltoides-tausch-poaceae-triticeae
#1
Olga Raskina
In wild plant populations, chromosome rearrangements lead to the wide intraspecific polymorphisms in the abundance and patterns of highly repetitive DNA. However, despite the large amount of accumulated data, the impact of the complex repetitive DNA fraction on genome reorganization and functioning and the mechanisms balancing and maintaining the structural integrity of the genome are not fully understood. Homologous recombination is thought to play a key role in both genome reshuffling and stabilization, while the contribution of nonhomologous recombination seems to be undervalued...
December 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29186711/genomic-organization-of-repetitive-dnas-and-differentiation-of-an-xx-xy-sex-chromosome-system-in-the-amazonian-puffer-fish-colomesus-asellus-tetraodontiformes
#2
Patrik F Viana, Tariq Ezaz, Leandro Marajó, Milena Ferreira, Jansen Zuanon, Marcelo B Cioffi, Luiz A C Bertollo, Maria C Gross, Eliana Feldberg
The genus Colomesus is the sole representative of the family Tetraodontidae in the Amazon region. Here, Colomesus asellus was analyzed using conventional and molecular cytogenetic protocols. Its diploid chromosome number is 2n = 46 with 12 meta-, 10 submeta-, 16 subtelo-, and 8 acrocentric chromosomes and a fundamental number of FN = 84. An XX/XY sex chromosome system was identified. Mapping of 18S rDNA correlated with the nucleolus organizer regions (Ag-NORs) in the short arms of the 2 X chromosomes in females and in the Y chromosome in males...
November 30, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29183018/cytogenetic-characterization-of-a-population-of-acanthodactylus-lineomaculatus-dum%C3%A3-ril-and-bibron-1839-reptilia-lacertidae-from-southwestern-morocco-and-insights-into-sex-chromosome-evolution
#3
Massimo Giovannotti, Paola Nisi Cerioni, Tahar Slimani, Andrea Splendiani, Alessio Paoletti, Adnane Fawzi, Ettore Olmo, Vincenzo Caputo Barucchi
Acanthodactylus lineomaculatus is now regarded as an ecotype of A. erythrurus with which it has been recently synonymized. Despite the wide range of A. erythrurus, karyological data for this species are scarce and limited to classical cytogenetic studies carried out in individuals from only 2 locations (central Spain and Spanish enclave of Melilla on the northwestern Mediterranean Moroccan coast). Here, for the first time, we cytogenetically characterized individuals of A. lineomaculatus from the southwestern Moroccan Atlantic coast with the aim to increase the karyological knowledge of this wide-ranging species and to assess if any chromosomal changes can be found in this ecotype in comparison to other populations of this species...
November 29, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29169149/prokaryotic-expression-and-anti-ibdv-activity-of-chicken-interleukin-18-and-interferon-%C3%AE
#4
Baifen Song, Xiaoting Li, Jinzhu Ma, Liquan Yu, Zhenyue Feng, Zhenhua Liu, Yudong Cui
Interferon-γ (IFN-γ), a cytokine produced by activated natural killer cells and T lymphocytes, is an important regulator of innate and adaptive immunity. Interleukin (IL)-18, also known as IFN-γ-inducing factor, is a cytokine that induces T and natural killer cells to produce IFN-γ. In this study, the chicken IL-18 (ChIL-18) and chicken IFN-γ (ChIFN-γ) genes were inserted into the pET28a prokaryotic expression vector, resulting in pET28a-IL-18 and pET28a-IFN-γ, respectively. These plasmids were transformed into Escherichia coli strain BL21, and the ChIL-18 and ChIFN-γ proteins were expressed and purified...
November 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#5
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29130948/mapping-genomic-scaffolds-to-chromosomes-using-laser-capture-microdissection-in-application-to-hawaiian-picture-winged-drosophila
#6
Lin Kang, Phillip George, Donald K Price, Igor Sharakhov, Pawel Michalak
Next-generation sequencing technologies have led to a decreased cost and an increased throughput in genome sequencing. Yet, many genome assemblies based on short sequencing reads have been assembled only to the scaffold level due to the lack of sufficient chromosome mapping information. Traditional ways of mapping scaffolds to chromosomes require a large amount of laboratory work and time to generate genetic and/or physical maps. To address this problem, we conducted a rapid technique which uses laser capture microdissection and enables mapping scaffolds of de novo genome assemblies directly to chromosomes in Hawaiian picture-winged Drosophila...
November 8, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29130975/karyotypes-versus-genomes-the-nymphalid-butterflies-melitaea-cinxia-danaus-plexippus-and-d-chrysippus
#7
Walther Traut, Virpi Ahola, David A S Smith, Ian J Gordon, Richard H Ffrench-Constant
The number of sequenced lepidopteran genomes is increasing rapidly. However, the corresponding assemblies rarely represent whole chromosomes and generally also lack the highly repetitive W sex chromosome. Knowledge of the karyotypes can facilitate genome assembly and further our understanding of sex chromosome evolution in Lepidoptera. Here, we describe the karyotypes of the Glanville fritillary Melitaea cinxia (n = 31), the monarch Danaus plexippus (n = 30), and the African queen D. chrysippus (2n = 60 or 59, depending on the source population)...
November 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29073611/genomic-characterization-of-chromosomal-insertions-insights-into-the-mechanisms-underlying-chromothripsis
#8
Takema Kato, Yuya Ouchi, Hidehito Inagaki, Yoshio Makita, Seiji Mizuno, Mitsuharu Kajita, Toshiro Ikeda, Kazuhiro Takeuchi, Hiroki Kurahashi
Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints and junction sequences in 4 patients with chromosomal insertions. Our analysis revealed that none of the 4 cases involved a simple insertion mediated by a 3-chromosomal breakage and rejoining events. The inserted fragments consisted of multiple pieces derived from a localized genomic region, which were shuffled and rejoined in a disorderly fashion with variable copy number alterations...
October 27, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29059674/chromosome-banding-in-amphibia-xxxv-highly-mobile-nucleolus-organizing-regions-in-craugastor-fitzingeri-anura-craugastoridae
#9
Michael Schmid, Claus Steinlein, Wolfgang Feichtinger, Indrajit Nanda
A 7-year cytogenetic study on the leaf litter frog Craugastor fitzingeri from Costa Rica and Panama revealed the existence of highly mobile nucleolus organizing regions (NORs) in their genomes. Silver (Ag)-staining of the active NORs demonstrated an exceptional interindividual pattern of NOR distribution at the telomeres of the chromosomes. All individuals examined showed a different and specific NOR location in their karyotypes. Furthermore, intraindividual variation in the NOR sites was found. This observation suggested the existence of mobile NORs in C...
October 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29040969/comparison-of-igh-profile-signals-using-t-4-14-and-igh-break-apart-probes-by-fish-in-multiple-myeloma
#10
Thomas Smol, Agnès Daudignon
We compared immunoglobulin heavy chain gene (IGH) signal patterns in multiple myeloma (MM) using the FGFR3-IGH and the IGH break-apart probes to facilitate their understanding and analysis. Forty-nine patients with MM were studied. FISH was performed on samples sorted with an FGFR3-IGH dual-color, dual-fusion translocation probe and an IGH dual-color break-apart rearrangement probe. The IGH deletions were found in 7 MM analyzed with the FGFR3-IGH probe and all confirmed by the IGH break-apart probe. The additional IGH signals were associated with different patterns using the IGH break-apart probe: a normal pattern in 9 cases, trisomy 14 in 3 cases, and splits of IGH in 7 cases...
October 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28992625/b-chromosome-variants-of-the-grasshopper-xyleus-discoideus-angulatus-are-potentially-derived-from-pericentromeric-dna
#11
Andrezza C S Bernardino, Diogo C Cabral-de-Mello, Carolina B Machado, Octavio M Palacios-Gimenez, Neide Santos, Vilma Loreto
B chromosomes, extra elements present in the karyotypes of some eukaryote species, have been described in the grasshopper Xyleus discoideus angulatus. Although some studies have proposed an autosomal origin of the B chromosome in X. d. angulatus, little is known about its repetitive DNA composition and evolutionary dynamics. The aim of the present work was to shed light on the B chromosome evolution in X. d. angulatus by cytogenetic analysis of 27 populations from Pernambuco and Ceará states (Brazil). The frequency of B chromosomes in the different populations was determined, and chromosome measurements and fluorescence in situ hybridization (FISH) with C0t-DNA and telomeric and B chromosome sequences were performed in cells from B-carrying individuals...
October 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28977788/x-chromosome-introgression-and-recombination-in-the-cephus-group-of-cercopithecus-monkeys
#12
Anthony J Tosi, Hirohisa Hirai
A representative of Cercopithecus erythrotis was surveyed at a 9.3-kb region of the X chromosome. The data were compared against homologous sequences of closely related Cercopithecus monkeys including C. cephus, a species recently shown to have 2 polymorphic X-chromosomal lineages. Direct sequence comparisons and subsequent phylogenetic analyses revealed that synapomorphies in the first 4.3 kb cluster C. erythrotis with one C. cephus lineage, while synapomorphies in the latter 5.0 kb join it with the second C...
October 5, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28968595/ingemar-gustavsson-1938-2016
#13
(no author information available yet)
No abstract text is available yet for this article.
September 30, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28965118/nuclear-repositioning-of-the-non-translocated-hlxb9-allele-in-the-leukaemia-cell-line-gdm-1-harbouring-a-t-6-7-q23-q36
#14
Concetta Federico, Claudia G Leotta, Francesca Bruno, Anna M Longo, Temitayo Owoka, Sabrina Tosi, Salvatore Saccone
Transcriptionally active and inactive topologically associated domains (TADs) occupy different areas in the cell nucleus, and chromosomal rearrangements relocating TADs could determine ectopic expression of the repositioned genes. In this study, we investigated the HLXB9 gene in a myeloid leukaemia cell line, GDM-1, known to harbour a rearrangement involving chromosome 7 with a breakpoint distal to HLXB9, highly expressed in these cells. We used FISH to target the regions involved in the translocation and to distinguish the translocated chromosome from the non-translocated one in interphase nuclei...
September 29, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28942442/evolutionary-relationships-among-boulengerella-species-ctenoluciidae-characiformes-genomic-organization-of-repetitive-dnas-and-highly-conserved-karyotypes
#15
José F de Souza E Sousa, Patrik F Viana, Luiz A C Bertollo, Marcelo B Cioffi, Eliana Feldberg
Ctenoluciidae is a Neotropical freshwater fish family whose representatives are known as bicudas. The genus Boulengerella contains 5 species, and 4 of them (B. cuvieri, B. lateristriga, B. lucius, and B. maculata) were cytogenetically analyzed in the present study by conventional and molecular procedures. All 4 species have a very similar karyotype, with 2n = 36 chromosomes (14 metacentrics + 16 submetacentrics + 6 subtelocentrics; FN = 72). However, the heterochromatin distribution pattern is species-specific...
September 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29041009/fcgr2a-and-fcgr3a-genotypes-correlate-with-farletuzumab-response-in-patients-with-first-relapsed-ovarian-cancer-exhibiting-low-ca125
#16
Wenquan Wang, Elizabeth B Somers, Erin N Ross, J Bradford Kline, Daniel J O'Shannessy, Charles Schweizer, Susan Weil, Luigi Grasso, Nicholas C Nicolaides
Farletuzumab is a humanized monoclonal antibody that binds to folate receptor alpha and elicits an anti-tumor response via immune effector activity. Recent studies from a global phase 3 trial in ovarian cancer patients treated with carboplatin/taxane plus farletuzumab found that the tumor-produced CA125 protein can suppress farletuzumab function via perturbing its engagement to the activating Fc-γ receptors CD32a (FCGR2A) and CD16a (FCGR3A). Previous reports have indicated that naturally occurring polymorphisms in both of these receptors may play a role in their ability to engage therapeutic antibodies and elicit an optimal immune response via antibody-dependent cellular cytotoxicity (ADCC)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#17
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28898877/identification-of-small-and-non-small-cell-lung-cancer-markers-in-peripheral-blood-using-cytokinesis-blocked-micronucleus-and-spectral-karyotyping-assays
#18
Randa A El-Zein, Shereen Abdel-Rahman, Kyle J Santee, Robert Yu, Sanjay Shete
Small cell lung cancer (SCLC) is a highly aggressive form of lung cancer. There is an urgent need to develop tools to identify individuals at high risk of developing SCLC. We have previously reported that the cytokinesis-blocked micronucleus (CBMN) assay is a strong predictor of non-small cell lung cancer (NSCLC). Here, we investigate the sensitivity of the CBMN endpoints as predictors of SCLC risk. We conducted the CBMN assay on SCLC patients (n = 216), NSCLC patients (n = 173), and healthy controls (n = 204)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28877528/x-linked-hypohidrotic-ectodermal-dysplasia-new-features-and-a-novel-eda-gene-mutation
#19
Salvatore Savasta, Giorgia Carlone, Riccardo Castagnoli, Francesca Chiappe, Francesco Bassanese, Roberta Piras, Vincenzo Salpietro, Valeria Brazzelli, Alberto Verrotti, Gian L Marseglia
We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28854430/genomic-and-cytogenetic-characterization-of-a-balanced-translocation-disrupting-nup98
#20
My Linh Thibodeau, Michelle Steinraths, Lindsay Brown, Zheyuan Zong, Naomi Shomer, Stefan Taubert, Karen L Mungall, Yussanne P Ma, Rosemary Mueller, Inanc Birol, Anna Lehman
A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints...
2017: Cytogenetic and Genome Research
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