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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/28605748/characterization-of-the-phenotype-associated-with-microduplication-reciprocal-to-nf1-microdeletion-syndrome
#1
Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11...
June 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28595195/gas6-oncogene-and-reverse-mllt3-kmt2a-duplications-in-an-infant-with-acute-myeloid-leukemia-and-a-novel-complex-hyperdiploid-karyotype-detailed-high-resolution-molecular-cytogenetic-studies
#2
Roberto R Capela de Matos, Daniela R Ney Garcia, Elaine Cifoni, Moneeb A K Othman, Mariana Tavares de Souza, Edna K Carboni, Gerson M Ferreira, Thomas Liehr, Raul C Ribeiro, Maria Luiza M Silva
Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases...
June 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28571006/extensive-sex-chromosome-polymorphism-of-microtus-thomasi-microtus-atticus-species-complex-associated-with-cryptic-chromosomal-rearrangements-and-independent-accumulation-of-heterochromatin
#3
Michail T Rovatsos, Juan A Marchal, Ismael Romero-Fernández, Maria Arroyo, Eva B Athanasopoulou, Antonio Sánchez
The sibling species Microtus thomasi and M. atticus represent probably the highest karyotypic diversity within the genus Microtus and are an interesting model for chromosomal evolution studies. In addition to variation in autosomes, they show a high intraspecific variation in the size and morphology of both sex chromosomes. We analyzed individuals with different sex chromosome constitutions using 3 painting probes, 2 from Y chromosome variants and 1 from the small arm of the submetacentric X chromosome. Our comparative painting approach uncovered 12 variants of Y and 14 variants of X chromosomes, which demonstrates that the polymorphism of sex chromosomes is substantially larger than previously reported...
June 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28564645/chicken-microchromosomes-in-the-lampbrush-phase-a-cytogenetic-description
#4
Svetlana Galkina, Valerie Fillon, Alsu Saifitdinova, Aleksandra Daks, Maria Kulak, Alexander Dyomin, Elena Koshel, Elena R Gaginskaya
Lampbrush chromosomes are giant, transcriptionally active, meiotic chromosomes found in oocytes of all vertebrates with the exception of mammals. Lampbrush chromosomes offer a convenient tool for cytogenetic mapping and, in particular, have been instrumental in mapping genes and linkage groups on chicken (GGA) chromosomes. Whereas cytogenetic maps of macrochromosome GGA1-10 and microchromosome GGA11-16 lampbrush bivalents have been established, identification and description of smaller microchromosome bivalents are still missing...
June 1, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28554179/skin-dominant-phenotype-in-a-patient-with-h-syndrome-identification-of-a-novel-mutation-in-the-slc29a3-gene
#5
Seçil Vural, Pelin Ertop, Ceren D Durmaz, Hatice Şanlı, Aylin Okçu Heper, Nihal Kundakçı, Halil G Karabulut, Hatice Ilgın Ruhi
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c...
May 30, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28514774/demonstration-of-5-methylcytosine-rich-dna-sequences-in-chiroptera
#6
Michael Schmid, Claus Steinlein, Christian Lomb, Marianne Volleth
5-Methylcytosine-rich heterochromatic regions were demonstrated in metaphase chromosomes of 5 species of Chiroptera by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 4 genera and 2 families and are characterized by divergent karyotypes. One species (Glauconycteris beatrix) has an extremely low diploid chromosome number of 2n = 22 with only meta- to submetacentric elements and remarkably large amounts of constitutive heterochromatin located in the centromeric and pericentromeric regions of all chromosome pairs...
May 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28501862/chromosome-painting-in-trogon-s-surrucura-aves-trogoniformes-reveals-a-karyotype-derived-by-chromosomal-fissions-fusions-and-inversions
#7
Tiago M Degrandi, Analía Del Valle Garnero, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Rafael Kretschmer, Edivaldo H C de Oliveira, Ricardo J Gunski
Trogons are forest birds with a wide distribution, being found in Africa, Asia, and America, and are included in the order Trogoniformes, family Trogonidae. Phylogenetic studies using molecular data have not been able to determine the phylogenetic relationship among the different genera of trogons. So far, no cytogenetic data for these birds exist. Hence, the aim of this study was to characterize the karyotype of Trogon surrucura surrucura by means of classical and molecular cytogenetics. We found a diploid chromosome number of 2n = 82, similar to most birds, with several derived features compared to chicken and the putative ancestral avian karyotype...
May 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28494439/centromere-repositioning-in-cattle-bos-taurus-chromosome-17
#8
Lisa De Lorenzi, Alessandra Iannuzzi, Elena Rossi, Stefania Bonacina, Pietro Parma
Eukaryotic organisms have developed a structure, called centromere, able to preserve the integrity of the genome during cell division. A young bull from the Marchigiana breed, with a normal external phenotype, underwent routine cytogenetic analysis to enter the reproduction center. All metaphases analyzed showed an unusual biarmed chromosome of medium size despite a diploid set of chromosomes (2n = 60,XY). FISH analysis excluded a pericentric inversion or a reciprocal translocation, but highlighted a repositioning of the centromere in BTA17...
May 12, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28486223/novel-unbalanced-translocations-affecting-the-long-arms-of-chromosomes-10-and-22-cause-complex-syndromes-with-very-severe-neurodevelopmental-delay-speech-impairment-autistic-behavior-and-epilepsy
#9
Emanuele G Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lücke, Thomas Liehr
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth...
May 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28478456/interstitial-10q21-1q23-31-duplication-due-to-meiotic-recombination-of-a-paternal-balanced-complex-rearrangement-cytogenetic-and-molecular-characterization
#10
Viola Alesi, Valeria Orlando, Silvia Genovese, Sara Loddo, Elisa Pisaneschi, Daniele Pompili, Cecilia Surace, Fabrizia Restaldi, Maria C Digilio, Bruno Dallapiccola, Maria L Dentici, Antonio Novelli
Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21...
May 6, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28315870/the-hypermethylated-regions-in-avian-chromosomes
#11
Michael Schmid, Claus Steinlein
Chromosomal locations and amounts of 5-methylcytosine-rich chromosome regions were detected in the karyotypes of 13 bird species by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 7 orders and 10 families of modern (Neognathae) and primitive (Palaeognathae) birds and are characterized by macro- and microchromosomes as well as ZW sex chromosomes. In all 13 species, the hypermethylated chromosome segments are confined to constitutive heterochromatin. The chromosomal locations of hypermethylated DNA regions in the karyotypes are constant and species-specific...
March 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28273668/large-duplications-can-be-benign-copy-number-variants-a-case-of-a-3-6-mb-xq21-33-duplication
#12
Marie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, Sophie Rondeau, Michel Vekemans, Catherine Turleau, Yves Ville, Valérie Malan
Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or Xp duplication present with syndromic intellectual disability because of functional disomy of the corresponding genes...
March 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28494440/nuclear-architecture-of-mouse-spermatocytes-chromosome-topology-heterochromatin-and-nucleolus
#13
Soledad Berrios
The nuclear organization of spermatocytes in meiotic prophase I is primarily determined by the synaptic organization of the bivalents that are bound by their telomeres to the nuclear envelope and described as arc-shaped trajectories through the 3D nuclear space. However, over this basic meiotic organization, a spermatocyte nuclear architecture arises that is based on higher-ordered patterns of spatial associations among chromosomal domains from different bivalents that are conditioned by the individual characteristics of chromosomes and the opportunity for interactions between their domains...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28441662/buffalo-leukemia-inhibitory-factor-induces-differentiation-and-dome-like-secondary-structures-in-cos-1-cells
#14
Gurjeet Kaur, Syed Azmal Ali, Shikha Pachauri, Dhruba Malakar, Jai K Kaushik, Ashok K Mohanty, Sudarshan Kumar
This study aimed to understand the molecular characteristics of buffalo leukemia inhibitory factor (BuLIF) and the generation of a stably transfected COS-1_BuLIF cell line for its functional characterization. Cumulus cells, isolated from oocytes, were separated, and total cDNA was prepared. The BuLIF gene was ligated into the cloning vector pJET1.2/blunt and expression vector pAcGFP-N1 which was transfected into COS-1 cells and confirmed by qRT-PCR and Western blot. BuLIF was immunoprecipitated and evaluated through a MTT assay...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28433994/the-chs4-chromatin-insulator-reduces-the-rate-of-retroviral-vector-mediated-gene-dysregulation-associated-with-aberrant-vector-transcription
#15
Xianyao Zhou, Qiujun Liu, Da Wang, Xuemei Zhang, David W Emery, Chang L Li
Integrating gammaretroviral vectors can dysregulate the expression of cellular genes through a variety of mechanisms, leading to genotoxicity and malignant transformation. Although most attention has focused on the activation of cellular genes by vector enhancers, aberrant fusion transcripts involving cellular gene sequences and vector promoters, vector splice elements, and vector transcription termination sequences have also been mechanistically associated with dysregulated expression of cellular genes. Chromatin insulators have emerged as an effective tool for reducing the frequency of vector-mediated genotoxicity and malignant transformation and have been shown to block the activation of cellular genes by vector enhancers...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28423373/distribution-of-interstitial-telomeric-sequences-in-primates-and-the-pygmy-tree-shrew-scandentia
#16
Sofia Mazzoleni, Odessa Schillaci, Luca Sineo, Francesca Dumas
It has been hypothesized that interstitial telomeric sequences (ITSs), i.e., repeated telomeric DNA sequences found at intrachromosomal sites in many vertebrates, could be correlated to chromosomal rearrangements and plasticity. To test this hypothesis, we hybridized a telomeric PNA probe through FISH on representative species of 2 primate infraorders, Strepsirrhini (Lemur catta, Otolemur garnettii, Nycticebus coucang) and Catarrhini (Erythrocebus patas, Cercopithecus petaurista, Chlorocebus aethiops, Colobus guereza), as well as on 1 species of the order Scandentia, Tupaia minor, used as an outgroup for primates in phylogenetic reconstructions...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28402969/cytogenetic-characterization-of-brown-howler-monkeys-alouatta-guariba-clamitans-atelidae-platyrrhini-meiotic-confirmation-of-an-x1x1x2x2x3x3-x1x2x3y1y2-sex-chromosome-system
#17
Eliana R Steinberg, Vanessa B Fortes, Luis F Rossi, Laurete Murer, Maristela Lovato, Maria S Merani, Marta D Mudry
For brown howler monkeys (Alouatta guariba clamitans), diploid chromosome numbers varying from 2n = 45 to 2n = 52, with XX/XY, X1X1X2X2/X1X2Y, and X1X1X2X2X3X3/X1X2X3Y1Y2 sex chromosome systems have been described by mitotic studies but still await confirmation by meiotic analyses. We analyzed 3 male individuals sampled in the wild (in the municipality of Santa Maria, RS, Brazil) as well as 1 male and 1 female individual in captivity at the São Braz breeding center. Peripheral blood samples and testicular biopsies were taken...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28359066/chromosomal-mapping-of-repetitive-dnas-in-myiopsitta-monachus-and-amazona-aestiva-psittaciformes-psittacidae-with-emphasis-on-the-sex-chromosomes
#18
Ivanete de Oliveira Furo, Rafael Kretschmer, Michelly S Dos Santos, Carlos A de Lima Carvalho, Ricardo J Gunski, Patrícia C M O'Brien, Malcolm A Ferguson-Smith, Marcelo B Cioffi, Edivaldo H C de Oliveira
Here, for the first time, we describe the karyotype of Myiopsitta monachus (Psittacidae, Arini). We found 2n = 48, corresponding to the lowest diploid number observed in Neotropical Psittaciformes so far, with an uncommonly large W chromosome homomorphic to the Z. In order to better understand the evolution of the sex chromosomes in this species, we applied several molecular cytogenetic approaches, including C-banding, FISH mapping of repetitive DNAs (several microsatellite repeats), and whole-chromosome painting on metaphases of M...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28351057/genome-wide-identification-and-analysis-of-the-type-b-authentic-response-regulator-gene-family-in-peach-prunus-persica
#19
Jingjue Zeng, Xudong Zhu, Muhammad S Haider, Xicheng Wang, Cheng Zhang, Chen Wang
The type-B authentic response regulator (ARR-B) family members serve as DNA-binding transcriptional regulators, whose activities are probably regulated by phosphorylation/dephosphorylation, resulting in the rapid induction of type-A ARR genes. Type-B ARRs are believed to be involved in many biological processes, including cytokinin signaling, plant growth, and stress responses through a chaperone or by isomerization of proline residues during protein folding. The public availability of complete peach genome sequences allows the identification of 23 ARR-B genes by HMMER and blast analysis...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28334717/a-tandemly-arranged-pattern-of-two-5s-rdna-arrays-in-amolops-mantzorum-anura-ranidae
#20
Ting Liu, Menghuan Song, Yun Xia, Xiaomao Zeng
In an attempt to extend the knowledge of the 5S rDNA organization in anurans, the 5S rDNA sequences of Amolops mantzorum were isolated, characterized, and mapped by FISH. Two forms of 5S rDNA, type I (209 bp) and type II (about 870 bp), were found in specimens investigated from various populations. Both of them contained a 118-bp coding sequence, readily differentiated by their non-transcribed spacer (NTS) sizes and compositions. Four probes (the 5S rDNA coding sequences, the type I NTS, the type II NTS, and the entire type II 5S rDNA sequences) were respectively labeled with TAMRA or digoxigenin to hybridize with mitotic chromosomes for samples of all localities...
2017: Cytogenetic and Genome Research
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