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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/28334717/a-tandemly-arranged-pattern-of-two-5s-rdna-arrays-in-amolops-mantzorum-anura-ranidae
#1
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...
March 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28334706/repetitive-dna-a-versatile-tool-for-karyotyping-in-festuca-pratensis-huds
#2
Anna Křivánková, David Kopecký, Štěpán Stočes, Jaroslav Doležel, Eva Hřibová
FISH is a useful method to identify individual chromosomes in a karyotype and to discover their structural changes accompanying genome evolution and speciation. DNA probes for FISH should be chromosome specific and/or exhibit specific patterns of distribution along each chromosome. Such probes are not available in many plants including meadow fescue (Festuca pratensis Huds.), an important forage grass species. In the present study, various DNA repeats identified in Illumina shotgun sequences specific to chromosome 4F of F...
March 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28329743/multicolor-spectral-analyses-of-mitotic-and-meiotic-mouse-chromosomes-involved-in-multiple-robertsonian-translocations-ii-the-nmri-cd-and-cd-ta-hybrid-strains
#3
Michael Schmid, Claus Steinlein, Heinz Winking
Multicolor spectral analyses (spectral karyotyping) were performed on mitotic chromosomes of NMRI, CD, and TA mice and on male meiotic chromosomes (diakineses) of NMRI/CD and CD/TA hybrids. All chromosomes, including the various centric (robertsonian) fusions, could be unequivocally identified. Apart from the robertsonian translocations, which were previously detected by conventional banding analyses, no other interchromosomal rearrangements were found in these mice. In both the CD and TA mice, the autosomes 19 and the XY sex chromosomes are not involved in robertsonian translocations...
March 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28315870/the-hypermethylated-regions-in-avian-chromosomes
#4
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/28315859/heteromorphism-of-homomorphic-sex-chromosomes-in-two-anole-species-squamata-dactyloidae-revealed-by-synaptonemal-complex-analysis
#5
Artem P Lisachov, Vladimir A Trifonov, Massimo Giovannotti, Malcolm A Ferguson-Smith, Pavel M Borodin
Iguanians (Pleurodonta) are one of the reptile lineages that, like birds and mammals, have sex chromosomes of ancient origin. In most iguanians these are microchromosomes, making a distinction between the X and Y as well as between homeologous sex chromosomes in other species difficult. Meiotic chromosome analysis may be used to elucidate their differentiation, because meiotic prophase chromosomes are longer and less condensed than metaphase chromosomes, and the homologues are paired with each other, revealing minor heteromorphisms...
March 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28297695/stability-of-genome-composition-and-recombination-between-homoeologous-chromosomes-in-festulolium-festuca-%C3%A3-lolium-cultivars
#6
David Kopecký, Denisa Šimoníková, Marc Ghesquière, Jaroslav Doležel
Festulolium are hybrids between fescue (Festuca) and ryegrass (Lolium) species and combine high seed yield of ryegrasses with abiotic stress tolerance of fescues. Chromosomes of Festuca and Lolium present in Festulolium freely pair and recombine, which results in highly variable progeny where every single plant has a unique chromosome constitution. Thus, the stability of the genomic composition in Festulolium cultivars is an important issue. In this work, we used in situ hybridization to examine the genomic composition (understood as the proportion of parental genomes present) over 3 consecutive generations of propagation via outcrossing (the first one being the generation used for cultivar registration) of 3 Festulolium cultivars...
March 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28297694/immunocytological-analysis-of-meiotic-recombination-in-the-gray-goose-anser-anser
#7
Anna A Torgasheva, Pavel M Borodin
Studies on mammals demonstrate wide interspecific variation in the number and distribution of recombination events along chromosomes. Birds represent an interesting model group for comparative analysis of cytological and ecological drivers of recombination rate evolution. Yet, data on variation in recombination rates in birds are limited to a dozen of species. In this study, we used immunolocalization of MLH1, a mismatch repair protein marking mature recombination nodules, to estimate the overall recombination rate and distribution of crossovers along macrochromosomes in female and male meiosis of the gray goose (Anser anser)...
March 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28278512/targeted-segment-transfer-from-rye-chromosome-2r-to-wheat-chromosomes-2a-2b-and-7b
#8
Tianheng Ren, Zhi Li, Benju Yan, Feiquan Tan, Zongxiang Tang, Shulan Fu, Manyu Yang, Zhenglong Ren
Increased chromosome instability was induced by a rye (Secale cereale L.) monosomic 2R chromosome into wheat (Triticum aestivum L.). Centromere breakage and telomere dysfunction result in high rates of chromosome aberrations, including breakages, fissions, fusions, deletions, and translocations. Plants with target traits were sequentially selected to produce a breeding population, from which 3 translocation lines with target traits have been selected. In these lines, wheat chromosomes 2A, 2B, and 7B recombined with segments of the rye chromosome arm 2RL...
March 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28278505/chromosome-painting-in-callicebus-nigrifrons-provides-insights-into-the-genome-evolution-of-titi-monkeys-and-the-ancestral-callicebinae-karyotype
#9
Naiara Pereira Araújo, Alice Alves do Espírito Santo, Valéria do Socorro Pereira, Roscoe Stanyon, Marta Svartman
We studied the chromosomes of Callicebus nigrifrons with conventional and molecular cytogenetic methods. Our chromosome painting analysis in C. nigrifrons together with previous reports allowed us to hypothesize an ancestral Callicebinae karyotype with 2n = 48. The associations of human chromosomes (HSA) 2/22, 7/15, 10/11, and the inverted HSA2/16 would link Callicebus, Cheracebus, and Plecturocebus and would thus be present in the ancestral Callicebinae karyotype. Four fusions (HSA1b/1c, 3c/8b, 13/20, and 14/15/3/21) and 1 fission (HSA2/22) are synapomorphies of Callicebus...
March 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28278497/true-nondisjunction-of-whole-bivalents-in-oocytes-with-attachment-and-congression-defects
#10
Martin Sodek, Kristina Kovacovicova, Martin Anger
Chromosome segregation in mammalian oocytes is prone to errors causing aneuploidy with consequences such as precocious termination of development or severe developmental disorders. Aneuploidy also represents a serious problem in procedures utilizing mammalian gametes and early embryos in vitro. In our study, we focused on congression defects during meiosis I and observed whole nondisjoined bivalents in meiosis II as a direct consequence, together with a substantially delayed first polar body extrusion. We also show that the congression defects are accompanied by less stable attachments of the kinetochores...
March 10, 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
#11
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/28259884/the-dicentric-chromosome-dic-20-22-is-a-recurrent-abnormality-in-myelodysplastic-syndromes-and-is-a-product-of-telomere-fusion
#12
Ruth N MacKinnon, Hendrika M Duivenvoorden, Lynda J Campbell, Meaghan Wall
We describe a recurrent dicentric chromosome formed by telomere fusion between chromosome 20 and chromosome 22 in 4 cases of myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML). In particular, the presence of residual telomere sequences at the site of translocation in 3 of the 4 cases makes a compelling case for telomere fusion. This is the first description of a recurrent telomere fusion event in any malignant condition. The 20q subtelomeric region was retained in all 4 examples despite deletion of the 20q12 region closer to the centromere...
March 4, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28253504/genomic-characterization-of-a-metastatic-alveolar-rhabdomyosarcoma-case-using-fish-studies-and-cgh-snp-microarray-revealing-foxo1-pax7-rearrangement-with-mycn-and-mdm2-amplification-and-rb1-region-loss
#13
Arivarasan Karunamurthy, Lori Hoffner, Jie Hu, Peter Shaw, Sarangarajan Ranganathan, Svetlana A Yatsenko, Urvashi Surti
Rhabdomyosarcomas (RMS) are rare, heterogeneous, soft tissue sarcomas and a common type of childhood malignancy with a distinct histomorphology. At the molecular level, alveolar rhabdomyosarcoma (ARMS), a subtype of RMS, harbors a signature genetic makeup characterized by specific translocations. The type of translocation and associated genetic aberrations correlate with disease progression, hence we used multiple molecular modalities including high-resolution array comparative genomic hybridization to explore the oncogenic gene fusion and associated copy number variations in a case of metastatic ARMS...
March 3, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28253503/xp22-31-microdeletion-due-to-microhomology-mediated-break-induced-replication-in-a-boy-with-contiguous-gene-deletion-syndrome
#14
Koki Nagai, Hirohito Shima, Miki Kamimura, Junko Kanno, Erina Suzuki, Akira Ishiguro, Satoshi Narumi, Shigeo Kure, Ikuma Fujiwara, Maki Fukami
The Xp22.31 region is characterized by a low frequency of interspersed repeats and a low GC content. Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively. Of the known microdeletions at Xp22.31, a common approximately 1.5-Mb deletion encompassing STS was ascribed to nonallelic homologous recombination, while 2 ANOS1-containing deletions were attributed to nonhomologous end-joining. However, the genomic bases of other microdeletions within the Xp22...
March 3, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28253493/isodicentric-philadelphia-chromosome-a-rare-chromosomal-aberration-in-imatinib-resistant-chronic-myelogenous-leukemia-patients-case-report-with-review-of-the-literature
#15
Krishna C Ramachandran, Geetha Narayanan, Sreejith G Nair, Sugeeth M Thambi, Lekshmi H Kamala, Preethi Gopinath, Hariharan Sreedharan
The BCR-ABL1 fusion gene derived from the Philadelphia chromosome, resulting from a classical translocation event t(9;22)(q34.13;q11.23), is responsible for the pathogenesis of chronic myeloid leukemia (CML) in more than 90% of the patients. The isoderivative chromosome 22, ider(22), and relative amplification or duplication of the BCR-ABL1 gene have been considered as one of the major reasons associated with the resistance to chemotherapy with imatinib mesylate, but the data remain unclear. GTG-banding together with FISH were performed to identify the presence of the ider(22) chromosome...
March 3, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28253492/identification-of-a-cryptic-insertion-ins-11-x-q23-q28q12-resulting-in-a-kmt2a-flna-fusion-in-a-13-month-old-child-with-acute-myelomonocytic-leukemia
#16
Jana Lentes, Kathrin Thomay, Dominik T Schneider, Benedikt Bernbeck, Dirk Reinhardt, Rolf Marschalek, Claus Meyer, Brigitte Schlegelberger, Gudrun Göhring
In pediatric acute myeloid leukemia (AML), chromosomal abnormalities leading to a disruption of the lysine methyltransferase 2A (KMT2A) gene in 11q23 are the most frequent rearrangements. Here, we report on the identification of a novel cryptic insertion, ins(11;X)(q23;q28q12), resulting in a translocation of the KMT2A gene in 11q23, leading to a KMT2A-FLNA fusion in a 13-month-old boy with de novo acute myelomonocytic leukemia, who died 38 days after diagnosis. The patient presented a complex karyotype 48∼49,Y,del(X)(q12),+del(X)(q12),+8,ins(11;X)(q23; q28q12),+19...
March 3, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28249294/coexpression-of-nup98-top1-and-top1-nup98-in-de-novo-acute-myeloid-leukemia-with-t-11-20-p15-q12-and-t-2-5-q33-q31
#17
Katsuya Yamamoto, Yosuke Minami, Kimikazu Yakushijin, Yu Mizutani, Yumiko Inui, Shinichiro Kawamoto, Keiji Matsui, Yuji Nakamachi, Seiji Kawano, Hiroshi Matsuoka, Hironobu Minami
The t(11;20)(p15;q11∼12) translocation is a very rare but recurrent cytogenetic aberration that occurs in myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). This translocation was shown to form a fusion gene between NUP98 at 11p15 and TOP1 at 20q12. Here, we describe a new case of de novo AML M2 with t(11;20) which was associated with another balanced translocation. An 81-year-old man was admitted to undergo salvage therapy for relapsed AML. G-banding and spectral karyotyping showed 46,XY,t(2;5)(q33;q31),t(11;20)(p15;q12)[20]...
March 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28249262/the-u2-sndna-is-a-useful-marker-for-b-chromosome-detection-and-frequency-estimation-in-the-grasshopper-abracris-flavolineata
#18
Diogo Milani, Octavio M Palacios-Gimenez, Diogo C Cabral-de-Mello
In this study, we describe a strategy to determine the presence of B chromosomes in the living grasshopper Abracris flavolineata by FISH using U2 snDNA as a probe in interphase hemolymph nuclei. In individuals without B chromosomes, (0B) 2 dot signals were noticed, corresponding to A complement U2 snDNA clusters. In +1B and +2B individuals, 4 or 8 additional signals were noticed, respectively. In all cases, the absence or presence of 1 or 2 B chromosomes correlated in hemolymph and in somatic or germline tissues, validating the efficiency of the marker...
March 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28245440/human-papillomavirus-and-the-development-of-different-cancers
#19
Ge Gao, David I Smith
Human papillomaviruses (HPV) are responsible for the development of almost all cervical cancers. HPV is also found in 85% of anal cancer and in 50% of penile, vulvar, and vaginal cancers, and they are increasingly found in a subset of head and neck cancers, i.e., oropharyngeal squamous cell carcinomas (OPSCC). The model for how HPV causes cancer is derived from several decades of study on cervical cancer, and it is just presumed that this model is not only completely valid for cervical cancer but for all other HPV-driven cancers as well...
March 1, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28231576/molecular-markers-involved-in-tumorigenesis-of-thyroid-carcinoma-focus-on-aggressive-histotypes
#20
Gustavo C Penna, Fernanda Vaisman, Mario Vaisman, Manuel Sobrinho-Simões, Paula Soares
Thyroid cancer derived from follicular cells (TCDFC) comprises well-differentiated (papillary and follicular) carcinoma, poorly differentiated carcinoma, and anaplastic carcinoma. Papillary thyroid carcinoma is the most common endocrine cancer, and its incidence is steadily increasing. Lethality and aggressiveness of TCDFC is inversely correlated with differentiation degree. In this review, an emphasis has been put on molecular markers involved in tumorigenesis of thyroid carcinoma with a focus on aggressive histotypes and the role of such biomarkers in predicting thyroid cancer outcome...
February 24, 2017: Cytogenetic and Genome Research
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