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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/28992625/b-chromosome-variants-of-the-grasshopper-xyleus-discoideus-angulatus-are-potentially-derived-from-pericentromeric-dna
#1
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
#2
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
#3
(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
#4
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
#5
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/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28850953/genomic-organization-and-physical-mapping-of-tandemly-arranged-repetitive-dnas-in-sterlet-acipenser-ruthenus
#10
Larisa S Biltueva, Dimitry Y Prokopov, Alexey I Makunin, Alexey S Komissarov, Anna V Kudryavtseva, Natalya A Lemskaya, Nadezhda V Vorobieva, Natalia A Serdyukova, Svetlana A Romanenko, Olga L Gladkikh, Alexander S Graphodatsky, Vladimir A Trifonov
Acipenseriformes represent a phylogenetically basal clade of ray-finned fish characterized by unusual genomic traits, including paleopolyploid states of extant genomes with high chromosome numbers and slow rates of molecular evolution. Despite a high interest in this fish group, only a limited number of studies have been accomplished on the isolation and characterization of repetitive DNA, karyotype standardization is not yet complete, and sex chromosomes are still to be identified. Here, we applied next-generation sequencing and cluster analysis to characterize major fractions of sterlet (Acipenser ruthenus) repetitive DNA...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28848076/the-xy-body-of-the-cat-felis-catus-structural-differentiations-and-protein-immunolocalization
#11
Roberta B Sciurano, Geraldine De Luca, I Mónica Rahn, Alberto J Solari
The heteromorphic X and Y chromosomes behave in a special way in mammalian spermatocytes; they form the XY body and synapse only partially. The aim of this article was to study the origin and the role of the special differentiations in the XY pair of the domestic cat during pachytene by analyzing its fine structural characteristics and the immunolocalization of the main meiotic proteins SYCP3, SYCP1, SYCE3, SMC3, γ-H2AX, BRCA1, H3K27me3, and MLH1. The cat XY body shows particularly striking structures: an extreme degree of axial fibrillation in late pachynema and a special location of SYCP3-containing fibrils, bridging different regions of the main X axis, as well as one bridge at the inner end of the pairing region that colocalizes with the single mandatory MLH1 focus...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28810257/karyotypes-and-distribution-of-tandem-repeat-sequences-in-brassica-nigra-determined-by-fluorescence-in-situ-hybridization
#12
Gui-Xiang Wang, Qun-Yan He, Jiri Macas, Petr Novák, Pavel Neumann, De-Xuan Meng, Hong Zhao, Ning Guo, Shuo Han, Mei Zong, Wei-Wei Jin, Fan Liu
Whole-genome shotgun reads were analyzed to determine the repeat sequence composition in the genome of black mustard, Brassica nigra (L.) Koch. The analysis showed that satellite DNA sequences are very abundant in the black mustard genome. The distribution pattern of 7 new tandem repeats (BnSAT13, BnSAT28, BnSAT68, BnSAT76, BnSAT114, BnSAT180, and BnSAT200) on black mustard chromosomes was visualized using fluorescence in situ hybridization (FISH). The FISH signals of BnSAT13 and BnSAT76 provided useful cytogenetic markers; their position and fluorescence intensity allowed for unambiguous identification of all 8 somatic metaphase chromosomes...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28772266/evolution-of-the-sex-chromosomes-in-beetles-i-the-loss-of-the-y-chromosome
#13
Anne-Marie Dutrillaux, Bernard Dutrillaux
In the males of Coleoptera, the most frequent sex chromosome constitution is XY. At metaphase I of meiosis, the X and Y are linked by nucleolar proteins, forming the so-called parachute bivalent (Xyp), which is assumed to allow the non-synapsed X and Y to segregate correctly at anaphase I. However, X0 males are not exceptional, and we explored the relationships between the X and nucleolar proteins in the absence of the Y chromosome in 6 species belonging to different families/subfamilies. Using C-banding and silver staining, we show that nucleolar proteins always remain in contact with the X until anaphase I...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28746920/assessing-the-clinical-utility-of-snp-microarray-for-prader-willi-syndrome-due-to-uniparental-disomy
#14
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt, Shalini C Reshmi, Caroline Astbury, Scott E Hickey
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28738367/extensive-amplification-of-telomeric-repeats-in-the-karyotypically-highly-diverse-african-pygmy-mice
#15
Victor Colomina, Josette Catalan, Janice Britton-Davidian, Frédéric Veyrunes
Telomeres are ribonucleoprotein structures protecting the physical ends of eukaryotic chromosomes. However, telomeric sequences can also occur at non-terminal regions of chromosomes, forming the so-called interstitial telomeric sequences (ITSs). Some ITSs are considered as relics of past chromosomal rearrangements and as such provide important insights into karyotype evolution. By FISH, we explored the distribution of telomeric motifs in the genome of a complex of mammalian species that has long been recognized for its extraordinary karyotypic diversity: the African pygmy mice...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28738335/miller-dieker-syndrome-due-to-a-5-5-mb-17p-deletion-in-a-17-y-pseudodicentric-chromosome
#16
Fernanda T Bellucco, Natália Nunes, Mileny E S Colovati, Andréa C M Malinverni, Thamy P Caneloi, Maria F Soares, Ana B A Perez, Maria I Melaragno
Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28723680/meiotic-recombination-in-the-giraffe-g-reticulata
#17
Miluse Vozdova, Jan Fröhlich, Svatava Kubickova, Hana Sebestova, Jiri Rubes
Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated giraffe males. We used immunofluorescence detection of synaptonemal complex protein (SYCP3), meiotic double strand breaks (DSB, marked as RAD51 foci) in leptonema, and crossovers (COs, as MLH1 foci) in pachynema...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28719910/correlating-the-genetic-and-physical-map-of-barley-chromosome-3h-revealed-limitations-of-the-fish-based-mapping-of-nearby-single-copy-probes-caused-by-the-dynamic-structure-of-metaphase-chromosomes
#18
Fernanda O Bustamante, Lala Aliyeva-Schnorr, Jörg Fuchs, Sebastian Beier, Andreas Houben
Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluorescence in situ hybridization (FISH) on mitotic metaphase chromosomes was performed with 16 genomic single-copy probes derived from fingerprinted BAC contigs. Long genetic distances at subterminal regions translated into short physical distances, confirming that recombination events occur more often at distal regions of chromosome 3H...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28719894/karyotype-evolution-and-phylogenetic-relationships-of-cricetulus-sokolovi-orlov-et-malygin-1988-cricetidae-rodentia-inferred-from-chromosomal-painting-and-molecular-data
#19
Natalia S Poplavskaya, Svetlana A Romanenko, Natalia A Serdyukova, Vladimir A Trifonov, Fengtang Yang, Wenhui Nie, Jinghuan Wang, Anna A Bannikova, Alexey V Surov, Vladimir S Lebedev
Sokolov's dwarf hamster (Cricetulus sokolovi) is the least studied representative of the striped hamsters (Cricetulus barabensis species group), the taxonomy of which remains controversial. The species was described based on chromosome morphology, but neither the details of the karyotype nor the phylogenetic relationships with other Cricetulus are known. In the present study, the karyotype of C. sokolovi was examined using cross-species chromosome painting. Molecular and cytogenetic data were employed to determine the phylogenetic position of Sokolov's hamster and to analyze the potential pathways of chromosome evolution in Cricetulus...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28700985/genes-involved-in-long-term-memory-are-expressed-in-testis-of-cryptorchid-boys-and-respond-to-gnrha-treatment
#20
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
It has been known for many years that boys with unilateral or bilateral undescended testis (cryptorchidism) tend to have a low IQ, and those who belong to the high infertility risk (HIR) group perform less well at school than low infertility risk (LIR) patients. However, the molecular biological processes underlying this phenomenon are not understood. In this study, we report the outcome of testicular RNA profiling for genes involved in long-term memory formation. We analyzed the histology and the transcriptome of testicular biopsies from bilateral HIR cryptorchid boys, comparing those who received GnRHa treatment for 6 months after the first surgery with those who did not receive GnRHa before the second surgery...
2017: Cytogenetic and Genome Research
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