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Cytogenetic and Genome Research

Kazumi Matsubara, Yoshinori Kumazawa, Hidetoshi Ota, Chizuko Nishida, Yoichi Matsuda
The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and performed FISH with 18S-28S rDNA as well as microchromosomal and Z chromosome-linked genes of Elaphe quadrivirgata (Alethinophidia) to investigate the karyotype evolution in the scolecophidian lineage...
February 13, 2019: Cytogenetic and Genome Research
Stéphane Boissinot, Yann Bourgeois, Joseph D Manthey, Robert P Ruggiero
Transposable elements (TE) constitute one of the most variable genomic features among vertebrates, impacting genome size, structure, and composition. Despite their important role in shaping genomic diversity, they have mostly been studied in mammals, which display one of the least diverse genomes in terms of TE diversity. Recent new resources in reptilian genomics have opened a broader perspective about TE evolution in amniotes. We discuss these recent results by showing that TE diversity is high in reptiles, particularly in squamates, with strong heterogeneity in the number of TE classes retained in each lineage, even at short evolutionary scales...
February 9, 2019: Cytogenetic and Genome Research
Stuart V Nielsen, Juan D Daza, Brendan J Pinto, Tony Gamble
Investigating the evolutionary processes influencing the origin, evolution, and turnover of vertebrate sex chromosomes requires the classification of sex chromosome systems in a great diversity of species. Among amniotes, squamates (lizards and snakes) - and gecko lizards in particular - are worthy of additional study. Geckos possess all major vertebrate sex-determining systems, as well as multiple transitions among them, yet we still lack data on the sex-determining systems for the vast majority of species...
January 26, 2019: Cytogenetic and Genome Research
Artem P Lisachov, Katerina V Tishakova, Yakov A Tsepilov, Pavel M Borodin
Meiotic recombination rates and patterns of crossover distributions along the chromosomes vary considerably even between closely related species. The adaptive significance of these differences is still unclear due to the paucity of empirical data. Most data on recombination come from mammalian species, while other vertebrate clades are poorly explored. Using immunolocalization of the protein of the lateral element of the synaptonemal complex (SYCP3) and the mismatch-repair protein MLH1, which marks mature recombination nodules, we analyzed recombination rates and crossover distribution in meiotic prophase chromosomes of the steppe agama (Trapelus sanguinolentus, Agamidae, Acrodonta, Iguania) and compared them with data obtained for the genus Anolis (Dactyloidae, Pleurodonta, Iguania)...
January 25, 2019: Cytogenetic and Genome Research
Janine E Deakin, Tariq Ezaz
Studies of reptile (nonavian reptiles) chromosomes began well over a century ago (1897) with the initial report on the description of sand lizard (Lacerta agilis) chromosomes. Since then, chromosome analysis in reptiles has contributed significantly to understanding chromosome evolution in vertebrates. Reptile karyotypes are also unique, as being the only vertebrate group where the majority of the species possess variable numbers of macro- and microchromosomes, which was first reported for iguanids and teiids in 1921...
January 16, 2019: Cytogenetic and Genome Research
Alessio Iannucci, Marie Altmanová, Claudio Ciofi, Malcolm Ferguson-Smith, Jorge C Pereira, Ivan Rehák, Roscoe Stanyon, Petr Velenský, Michail Rovatsos, Lukáš Kratochvíl, Martina Johnson Pokorná
We developed new tools to build a high-quality chromosomal map of the Komodo dragon (Varanus komodoensis) available for cross-species phylogenomic analyses. First, we isolated chromosomes by flow sorting and determined the chromosome content of each flow karyotype peak by FISH. We then isolated additional Komodo dragon chromosomes by microdissection and amplified chromosome-specific DNA pools. The chromosome-specific DNA pools can be sequenced, assembled, and mapped by next-generation sequencing technology...
January 15, 2019: Cytogenetic and Genome Research
Michael Schmid, Claus Steinlein, Alina M Reiter, Michail Rovatsos, Marie Altmanová, Sofia Mazzoleni, Martina Johnson Pokorná, Lukáš Kratochvíl
An experimental approach using monoclonal anti-5-methylcytosine antibodies and indirect immunofluorescence was elaborated for detecting 5-methylcytosine-rich chromosome regions in reptilian chromosomes. This technique was applied to conventionally prepared mitotic metaphases of 2 turtle species and 12 squamate species from 8 families. The hypermethylation patterns were compared with C-banding patterns obtained by conventional banding techniques. The hypermethylated DNA sequences are species-specific and are located in constitutive heterochromatin...
January 15, 2019: Cytogenetic and Genome Research
Liang-Liang Fan, Hao Huang, Jie-Yuan Jin, Jing-Jing Li, Ya-Qin Chen, Rong Xiang
Dilated cardiomyopathy (DCM) is a severe cardiovascular disease which can lead to heart failure and sudden cardiac death (SCD). The typical feature of DCM is left ventricular enlargement or dilatation. In some conditions, DCM and arrhythmia can occur concurrently, apparently promoting the prevalence of SCD. According to previous studies, mutations in more than 100 genes have been detected in DCM and/or arrhythmia patients. Here, we report a Chinese family with typical DCM, ventricular tachycardia, syncope, and SCD...
January 11, 2019: Cytogenetic and Genome Research
Alessio Iannucci, Marta Svartman, Massimo Bellavita, Guido Chelazzi, Roscoe Stanyon, Claudio Ciofi
Our knowledge of Testudines evolution is limited by the lack of modern cytogenetic data. Compared to other reptiles, there is little information even on chromosome banding, let alone molecular cytogenetic data. Here, we provide detailed information on the karyotype of the European pond turtle Emys orbicularis, a model Emydidae, employing both chromosome banding and molecular cytogenetics. We provide a high-resolution G-banded karyotype and a map of rDNA genes and telomeric sequences using fluorescence in situ hybridization...
January 11, 2019: Cytogenetic and Genome Research
Marla C McPherson, Hans H Cheng, Justin M Smith, Mary E Delany
Marek's disease (MD) is an infectious disease characterized by lymphomas and high mortality in susceptible chickens. The causative and ubiquitous alpha-herpesvirus known as MD virus (MDV) integrates into host telomeres during early infection through latency, known to be an important phase for oncogenic transformation. Herein, we sought to determine the influence of vaccination and host genetics on the temporal dynamics of MDV-host genome interactions. We studied integration profiles using 2 MD vaccines that vary in protective efficacy in 2 genetic lines that differ in MD resistance/susceptibility...
December 21, 2018: Cytogenetic and Genome Research
Fernanda T Bellucco, Rodrigo A Fock, Hélio R de Oliveira-Júnior, Ana B Perez, Maria I Melaragno
Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35...
December 18, 2018: Cytogenetic and Genome Research
Rodolfo Martín-Del-Campo, Itzel Sifuentes-Romero, Alejandra García-Gasca
Reptiles are ancestral organisms presenting a variety of shapes, from the elongated vertebral column of the snake to the turtle dorsalized ribs or retractile neck. Body plans are specified by a conserved group of homeobox-containing genes (Hox genes), which encode transcription factors important in cell fate and vertebral architecture along the anteroposterior axis during embryonic development; thus, dysregulation of these genes may cause congenital malformations, from mild-sublethal to embryonic-lethal. The genetic pool, maternal transfer, and environmental conditions during egg incubation affect development; environmental factors such as temperature, moisture, oxygen, and pollution may alter gene expression by epigenetic mechanisms...
December 15, 2018: Cytogenetic and Genome Research
Sarah Correll-Tash, Laura Conlin, Beth A Mininger, Brenna Lilley, Michael T Mennuti, Beverly S Emanuel
The AT-rich repeat on chromosome 22q11.2 is known to be involved in the recurrent constitutional t(11;22)(q23;q11.2). Segregation of this translocation has been reported in several hundred families, but a de novo translocation event has been identified in only 8 cases, and everytime the translocation originated in paternal germ-line chromosomes. Further, de novo t(11;22) rearrangements have been detected in the sperm of healthy males, leading to the hypothesis that it occurs somewhere along the meiosis-spermatogenesis pathway...
December 14, 2018: Cytogenetic and Genome Research
Martin Knytl, Tereza Tlapakova, Tereza Vankova, Vladimir Krylov
The African clawed frogs of the subgenus Silurana comprise both diploid and tetraploid species. The root of the polyploidization event leading to the extant Xenopus calcaratus, X. mellotropicalis, and X. epitropicalis is not fully understood so far. In X. mellotropicalis, we previously proposed 2 evolutionary scenarios encompassing complete (scenario A) or incomplete (scenario B) translocation of a heterochromatic block from chromosome 9 to 2 in a diploid ancestor. To resolve this puzzle, we performed FISH coupled with tyramide signal amplification (FISH-TSA) using 5 X...
December 11, 2018: Cytogenetic and Genome Research
Elisa Tassano, Sara Uccella, Thea Giacomini, Mariasavina Severino, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene disorders, which complicate the understanding of genotype-phenotype correlations. Chromosome band 3p26.3 contains 3 genes encoding neuronal cell adhesion molecules: CHL1, CNTN6, and CNTN4. We describe 2 boys aged 8 years and 11 years mainly affected by intellectual disability and autism spectrum disorder, who harbor a paternally inherited 3p26.3 microdeletion and a 3p26...
December 4, 2018: Cytogenetic and Genome Research
Lucas A M Rosolen, Marcelo R Vicari, Mara C Almeida
Coleoptera is the most diverse order among insects, and comparative molecular cytogenetic studies in this group are lacking. The species of Omophoita (Oedionychina) possess a karyotype of 2n = 22 = 10II+X+Y. They are interesting models for evolutionary cytogenetic studies due to giant sex chromosomes which are asynaptic during meiosis. Transposable elements (TEs) confer plasticity and mobility to genomes and are considered hotspots for DNA double-strand breaks and chromosomal rearrangements. The objective of the present study was to verify the role of TEs in the karyotype and in the size expansion of the giant sex chromosomes in Omophoita...
December 1, 2018: Cytogenetic and Genome Research
Harmonie Barasc, Nathalie Mouney-Bonnet, Clémence Peigney, Anne Calgaro, Clémence Revel, Nicolas Mary, Alain Ducos, Alain Pinton
Robertsonian translocations are the most frequent chromosomal rearrangements detected in cattle. Here, we report on the detection of a new Robertsonian translocation between chromosomes BTA3 and BTA16. This rob(3;16) was dicentric, suggesting that its occurrence was recent. FISH analysis of decondensed sperm nuclei revealed a relatively low rate of unbalanced gametes produced by adjacent segregation (5.87%). In addition, and for the first time in bovines, a significant interchromosomal effect (ICE) was detected for 2 different autosomes: BTA17 (global disomy + nullisomy rate of 9%) and BTA20 (1...
December 1, 2018: Cytogenetic and Genome Research
Olga A Efimova, Anna A Pendina, Mikhail I Krapivin, Vladimir V Kopat, Andrei V Tikhonov, Anastasiia V Petrovskaia-Kaminskaia, Polina M Navodnikova, Olga E Talantova, Oleg S Glotov, Vladislav S Baranov
5-hydroxymethylcytosine (5hmC) is an oxidative derivative of 5-methylcytosine (5mC). Recent studies have revealed a sharp difference in the levels of 5hmC in 2 opposite DNA strands of a given chromosome and a chromosome-wide cell-to-cell variability in mammalian cells. This asymmetric 5hmC distribution was found in cultured cells, which may not fully mimic in vivo epigenetic processes. We have checked whether inter-chromosome and inter-cell variability of 5hmC patterns is typical for noncultured human cells...
November 30, 2018: Cytogenetic and Genome Research
Michelly S Dos Santos, Ivanete O Furo, Marcella M Tagliarini, Rafael Kretschmer, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Edivaldo H C de Oliveira
The hoatzin (Opisthocomus hoazin Müller, 1776) is a folivorous bird, endemic to the Amazonian region. It presents some unique characteristics, including wing claws and foregut fermentation, which make its phylogenetic relationship to other birds difficult to determine. There have been various attempts to place it among the Galliformes, Gruiformes, Musophagiformes, Cuculiformes, and Charadriiformes, but phylogenetic analyses always show low supporting values. Nowadays, the hoatzin is included in the monotypic order Opisthocomiformes, but the relationship of this order to other groups of birds is still unclear...
November 24, 2018: Cytogenetic and Genome Research
Vida Čulić, Ruzica Lasan-Trcić, Thomas Liehr, Igor N Lebedev, Maja Pivić, Jasminka Pavelic, Robert Vulić
We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases...
November 23, 2018: Cytogenetic and Genome Research
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