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https://www.readbyqxmd.com/read/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#1
N Villa, D Conconi, D Gambel Benussi, G Tornese, F Crosti, E Sala, L Dalprà, V Pecile
BACKGROUND: Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. CASE PRESENTATION: We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28600058/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-11
#2
Chih-Ping Chen, Ming Chen, Pu-Tsui Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Shun-Ping Chang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. CASE REPORT: A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
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/28557696/comparative-cytogenetics-of-the-black-ghost-knifefish-gymnotiformes-apteronotidae-evidence-of-chromosomal-fusion-and-pericentric-inversions-in-karyotypes-of-two-apteronotus-species
#4
Carlos Alexandre Fernandes, Leonardo Marcel Paiz, Lucas Baumgärtner, Vladimir Pavan Margarido, Margarida Maria de Rossi Vieira
The karyotype and chromosomal characteristics of Apteronotus albifrons and Apteronotus caudimaculosus collected from populations of two different large Brazilian river basins were analyzed by conventional and molecular cytogenetic techniques, to contribute to the differentiation and identification of the species in this genus. The diploid chromosome number was 2n = 24 for A. albifrons, but with difference in the karyotype structure and fundamental number values between two populations under study. In A...
May 30, 2017: Zebrafish
https://www.readbyqxmd.com/read/28549201/cytogenetic-aspects-of-a-canine-breast-carcinosarcoma-a-case-report
#5
C S D Morais, P R A M Affonso, J A Bitencourt, A A Wenceslau
This study searched a rare and aggressive type of cancer in dogs and humans, the breast carcinosarcoma. Both clinical and pathological traits of mammary carcinosarcomas in dogs are similar to humans, such as infrequent occurrence, fast tumor growth, and unfavorable prognosis when compared to carcinomas. Other possible alterations include chromosomal abnormalities that can be useful for the identification of tumoral cells and diagnosis. The aim of this study was to compare the chromosomal features of peripheral lymphocytes and tumor cells in a mammary carcinosarcoma of a 14-year-old female Poodle...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28521734/higher-order-organisation-of-extremely-amplified-potentially-functional-and-massively-methylated-5s-rdna-in-european-pikes-esox-sp
#6
Radka Symonová, Konrad Ocalewicz, Lech Kirtiklis, Giovanni Battista Delmastro, Šárka Pelikánová, Sonia Garcia, Aleš Kovařík
BACKGROUND: Pikes represent an important genus (Esox) harbouring a pre-duplication karyotype (2n = 2x = 50) of economically important salmonid pseudopolyploids. Here, we have characterized the 5S ribosomal RNA genes (rDNA) in Esox lucius and its closely related E. cisalpinus using cytogenetic, molecular and genomic approaches. Intragenomic homogeneity and copy number estimation was carried out using Illumina reads. The higher-order structure of rDNA arrays was investigated by the analysis of long PacBio reads...
May 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28500793/integrating-the-genomic-architecture-of-human-nucleolar-organizer-regions-with-the-biophysical-properties-of-nucleoli
#7
REVIEW
Hazel Mangan, Michael Ó Gailín, Brian McStay
Nucleoli are the sites of ribosome biogenesis and the largest membraneless sub-nuclear structures. They are intimately linked with growth and proliferation control and function as sensors of cellular stress. Nucleoli form around arrays of ribosomal gene (rDNA) repeats also called nucleolar organizer regions (NORs). In humans, NORs are located on the short arms of all five human acrocentric chromosomes. Multiple NORs contribute to the formation of large heterochromatin-surrounded nucleoli observed in most human cells...
May 13, 2017: FEBS Journal
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/28483332/prenatal-phenotype-of-down-syndrome-using-three-dimensional-virtual-reality
#9
Heron Werner, Jorge Roberto Lopes Dos Santos, Gerson Ribeiro, Edward Araujo Júnior
BACKGROUND: Down syndrome is a chromosomal abnormality characterized by an additional acrocentric chromosome, resulting in an aneuploid number of 47 chromosomes (trisomy 21). Fetal face phenotype of Down syndrome is typical in the second trimester and characterized by plane face and a big and protruding tongue. CASE: We present a case of Down syndrome at 29 weeks of gestation in which the fetal face was created using 3-D virtual reality model from 3-D ultrasound scan data...
May 5, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28437173/the-karyotype-of-microsternarchus-aff-bilineatus-a-first-case-of-y-chromosome-degeneration-in-gymnotiformes
#10
Jéssica Almeida Batista, Adauto Lima Cardoso, Susana Suely Rodrigues Milhomem-Paixão, Jonathan Stuart Ready, Julio Cesar Pieczarka, Cleusa Yoshiko Nagamachi
Various species and lineages that until recently were identified as Microsternarchus bilineatus (Hypopomidae, Gymnotiformes) have a widespread distribution in the Amazon and Orinoco River basins and across the Guiana shield. Recent molecular studies show five distinct lineages for Microsternarchus from different localities. These results suggest that this previously monotypic genus actually consists of more than one species. Here, we describe the karyotype of M. aff. bilineatus from the Cururutuia River (Bragança, Pará, Brazil)...
June 2017: Zebrafish
https://www.readbyqxmd.com/read/28431265/nucleolar-reorganization-in-response-to-rdna-damage
#11
REVIEW
Marjolein van Sluis, Brian McStay
Nucleoli, sites of ribosome biogenesis, form around nucleolar organizer regions (NORs) comprising rDNA arrays, located on human acrocentric chromosome p-arms. NORs provide an opportunity to investigate the DNA double strand break (DSB) response at highly transcribed, repetitive, essential loci. Targeted introduction of DSBs into rDNA results in ATM-dependent inhibition of RNA-polymerase I transcription, coupled with movement of rDNA from the nucleolar interior to anchoring points at the periphery. Reorganization renders rDNA accessible to repair factors, normally excluded from nucleoli...
April 18, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28423373/distribution-of-interstitial-telomeric-sequences-in-primates-and-the-pygmy-tree-shrew-scandentia
#12
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
#13
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/28374190/a-genome-wide-study-of-hardy-weinberg-equilibrium-with-next-generation-sequence-data
#14
Jan Graffelman, Deepti Jain, Bruce Weir
Statistical tests for Hardy-Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal and X-chromosomal variants. We find that the rate of disequilibrium largely exceeds what might be expected by chance alone for all chromosomes. Observed disequilibrium is, in about 60% of the cases, due to heterozygote excess...
June 2017: Human Genetics
https://www.readbyqxmd.com/read/28333343/centromere-destiny-in-dicentric-chromosomes-new-insights-from-the-evolution-of-human-chromosome-2-ancestral-centromeric-region
#15
Giorgia Chiatante, Giuliana Giannuzzi, Francesco Maria Calabrese, Evan E Eichler, Mario Ventura
Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells...
July 1, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28251879/molecular-cytogenetic-analysis-reveals-the-existence-of-two-independent-neo-xy-sex-chromosome-systems-in-anatolian-pamphagidae-grasshoppers
#16
Ilyas Yerkinovich Jetybayev, Alexander Gennadievich Bugrov, Mustafa Ünal, Olesya Georgievna Buleu, Nikolay Borisovich Rubtsov
BACKGROUND: Neo-XY sex chromosome determination is a rare event in short horned grasshoppers, but it appears with unusual frequency in the Pamphagidae family. The neo-Y chromosomes found in several species appear to have undergone heterochromatinization and degradation, but this subject needs to be analyzed in other Pamphagidae species. We perform here karyotyping and molecular cytogenetic analyses in 12 Pamphagidae species from the center of biodiversity of this group in the previously-unstudied Anatolian plateau...
February 7, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28196983/genomic-profiling-of-acute-lymphoblastic-leukemia-in-ataxia-telangiectasia-patients-reveals-tight-link-between-atm-mutations-and-chromothripsis
#17
M Ratnaparkhe, M Hlevnjak, T Kolb, A Jauch, K K Maass, F Devens, A Rode, V Hovestadt, A Korshunov, A Pastorczak, W Mlynarski, S Sungalee, J Korbel, J Hoell, U Fischer, T Milde, C Kramm, M Nathrath, K Chrzanowska, E Tausch, M Takagi, T Taga, S Constantini, J Loeffen, J Meijerink, S Zielen, G Gohring, B Schlegelberger, E Maass, R Siebert, J Kunz, A E Kulozik, B Worst, D T Jones, S M Pfister, M Zapatka, P Lichter, A Ernst
Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair...
March 14, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28177835/analysis-of-the-histone-cluster-in-senegalese-sole-solea-senegalensis-evidence-for-a-divergent-evolution-of-two-canonical-histone-clusters
#18
Manuel Alejandro Merlo, Roger Iziga, Silvia Portela-Bens, Ismael Cross, Nadezda Kosyakova, Thomas Liehr, Manuel Manchado, Laureana Rebordinos
The Senegalese sole (Solea senegalensis) is commercially very important and a priority species for aquaculture product diversification. The main histone cluster was identified within two BAC clones. However, two replacement histones (H1.0 and H3.3) were found in another BAC clone. Different types of canonical histones H2A and H2B were found within the same species for the first time. Phylogenetic analysis demonstrated that the different types of H1, H2A, and H2B histones were all more similar to each other than to canonical histones from other species...
December 10, 2016: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28111257/fragile-sites-dysfunctional-telomere-and-chromosome-fusions-what-is-5s-rdna-role
#19
Alain Victor Barros, Michele Andressa Vier Wolski, Viviane Nogaroto, Mara Cristina Almeida, Orlando Moreira-Filho, Marcelo Ricardo Vicari
Repetitive DNA regions are known as fragile chromosomal sites which present a high flexibility and low stability. Our focus was characterize fragile sites in 5S rDNA regions. The Ancistrus sp. species shows a diploid number of 50 and an indicative Robertsonian fusion at chromosomal pair 1. Two sequences of 5S rDNA were identified: 5S.1 rDNA and 5S.2 rDNA. The first sequence gathers the necessary structures to gene expression and shows a functional secondary structure prediction. Otherwise, the 5S.2 rDNA sequence does not contain the upstream sequences that are required to expression, furthermore its structure prediction reveals a nonfunctional ribosomal RNA...
April 15, 2017: Gene
https://www.readbyqxmd.com/read/28074622/-holostei-versus-halecostomi-problem-insight-from-cytogenetics-of-ancient-nonteleost-actinopterygian-fish-bowfin-amia-calva
#20
Zuzana Majtánová, Radka Symonová, Lenin Arias-Rodriguez, Lauren Sallan, Petr Ráb
Bowfin belongs to an ancient lineage of nonteleost ray-finned fishes (actinopterygians) and is the only extant survivor of a once diverged group, the Halecomorphi or Amiiformes. Owing to the scarcity of extant nonteleost ray-finned lineages, also referred as "living fossils," their phylogenetic interrelationships have been the target of multiple hypotheses concerning their sister group relationships. Molecular and morphological data sets have produced controversial results; bowfin is considered as either the sister group to genome-duplicated teleosts (together forming the group of Halecostomi) or to gars (Lepisosteiformes; together forming the group of Holostei)...
January 11, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
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