The role of DMDs in the maintenance of epigenetic states.

abstract：:In order to understand the mechanisms of formation of chromosomal aberrations, studies performed on human syndromes with genomic instability can be fruitful. In this report, the results from studies in our laboratory on the importance of the transcription-coupled repair (TCR) pathway on the induction of chromosomal da...

journal_title：Cytogenetic and genome research

authors： Palitti F

更新日期：2004-01-01 00:00:00

abstract：:The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)n repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present r...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 00:00:00

abstract：: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 spermat...

journal_title：Cytogenetic and genome research

authors： Berrios S

更新日期：2017-01-01 00:00:00

abstract：:Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. I...

journal_title：Cytogenetic and genome research

authors： Katsumi M,Ishikawa H,Tanaka Y,Saito K,Kobori Y,Okada H,Saito H,Nakabayashi K,Matsubara Y,Ogata T,Fukami M,Miyado M

更新日期：2014-01-01 00:00:00

abstract：:Phyllotines are sigmodontine rodents endemic to South America with broad genetic variability, Robertsonian polymorphisms being the most frequent. Moreover, this taxon includes a species with multiple sex chromosomes, which is infrequent in mammals. However, molecular cytogenetic techniques have never been applied to p...

journal_title：Cytogenetic and genome research

authors： Lanzone C,Labaroni C,Suárez N,Rodríguez D,Herrera ML,Bolzán AD

更新日期：2015-01-01 00:00:00

abstract：:Scanning electron microscopy (SEM) proves to be an appropriate technique for imaging chromatin organization in meiosis I and II of rye (Secale cereale) down to a resolution of a few nanometers. It could be shown for the first time that organization of basic structural elements (coiled and parallel fibers, chromomeres)...

journal_title：Cytogenetic and genome research

authors： Zoller JF,Hohmann U,Herrmann RG,Wanner G

更新日期：2004-01-01 00:00:00

abstract：:B chromosomes are now known in eight Brazilian rodent species: Akodon montensis, Holochilus brasiliensis, Nectomys rattus, N. squamipes, Oligoryzomys flavescens, Oryzomys angouya, Proechimys sp. 2 and Trinomys iheringi. Typically these chromosomes are heterogeneous relative to size, morphology, banding patterns, prese...

journal_title：Cytogenetic and genome research

authors： Silva MJ,Yonenaga-Yassuda Y

更新日期：2004-01-01 00:00:00

abstract：:ATM, the protein product of the gene mutated in the human autosomal recessive disorder ataxia telangiectasia, is involved in detection of double strand breaks (DSBs) and is a key component of the damage surveillance network of cell cycle proteins. In somatic cells ATM phosphorylates many other proteins including p53, ...

journal_title：Cytogenetic and genome research

authors： Ashley T,Westphal C,Plug-de Maggio A,de Rooij DG

更新日期：2004-01-01 00:00:00

abstract：:Peroxisomes are cell organelles that perform multiple functions in the metabolism of lipids and of reactive oxygen species. They are present in most eukaryotic cells. However, they are believed to be absent in spermatozoa and they have never been described in male germ cells. We have used the immortalized germ cell li...

journal_title：Cytogenetic and genome research

authors： Lüers GH,Schad A,Fahimi HD,Völkl A,Seitz J

更新日期：2003-01-01 00:00:00

abstract：:We have made a set of chromosome-specific painting probes for the American mink by degenerate oligonucleotide primed-PCR (DOP-PCR) amplification of flow-sorted chromosomes. The painting probes were used to delimit homologous chromosomal segments among human, red fox, dog, cat and eight species of the family Mustelidae...

journal_title：Cytogenetic and genome research

authors： Graphodatsky AS,Yang F,Perelman PL,O'Brien PC,Serdukova NA,Milne BS,Biltueva LS,Fu B,Vorobieva NV,Kawada SI,Robinson TJ,Ferguson-Smith MA

更新日期：2002-01-01 00:00:00

abstract：:LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. Howeve...

journal_title：Cytogenetic and genome research

authors： Sookdeo A,Ruiz-García M,Schneider H,Boissinot S

更新日期：2018-01-01 00:00:00

abstract：:The detection of quantitative changes in genomic DNA, i.e. deletions and duplications or Copy Number Variants (CNVs), has recently gained considerable interest. First, detailed analysis of the human genome showed a surprising amount of CNVs, involving thousands of genes. Second, it was realised that the detection of C...

journal_title：Cytogenetic and genome research

authors： Aten E,White SJ,Kalf ME,Vossen RH,Thygesen HH,Ruivenkamp CA,Kriek M,Breuning MH,den Dunnen JT

更新日期：2008-01-01 00:00:00

abstract：:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletio...

journal_title：Cytogenetic and genome research

authors： Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

更新日期：2014-01-01 00:00:00

abstract：:Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

journal_title：Cytogenetic and genome research

authors： Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

更新日期：2015-01-01 00:00:00

abstract：:A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoo...

journal_title：Cytogenetic and genome research

authors： Liang J,Zhang Y,Wang R,Liang Z,Yue J,Liu R

更新日期：2015-01-01 00:00:00

abstract：:The molecular structure of the exceptional telomeres of six plant species belonging to the order Asparagales and two species of the order Liliales was analyzed using Southern blot and fluorescence in situ hybridization. Three different situations were found, namely: i) In the two Liliales species, Tulipa australis (Li...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Cuñado N,Navajas-Pérez R,Santos JL,Ruiz Rejón C,Garrido-Ramos MA,Ruiz Rejón M

更新日期：2005-01-01 00:00:00

abstract：:2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...

journal_title：Cytogenetic and genome research

authors： Ronzoni L,Novelli A,Brisighelli G,Peron A,Triulzi F,Bianchi V,Leva E,Bedeschi MF

更新日期：2016-01-01 00:00:00

abstract：:The article reviews the existing methods of multicolor FISH on nuclear targets, first of all, interphase chromosomes. FISH proper and image acquisition are considered as two related components of a single process. We discuss (1) M-FISH (combinatorial labeling + deconvolution + wide-field microscopy); (2) multicolor la...

journal_title：Cytogenetic and genome research

authors： Walter J,Joffe B,Bolzer A,Albiez H,Benedetti PA,Müller S,Speicher MR,Cremer T,Cremer M,Solovei I

更新日期：2006-01-01 00:00:00

abstract：:This article presents the first physical mapping carried out in the Senegalese sole (Solea senegalensis), an important marine fish species of Southern Europe. Eight probes were designated to pick up genes of interest in aquaculture (candidate genes) from a bacterial artificial chromosome (BAC) library using a method o...

journal_title：Cytogenetic and genome research

authors： García-Cegarra A,Merlo MA,Ponce M,Portela-Bens S,Cross I,Manchado M,Rebordinos L

更新日期：2013-01-01 00:00:00

abstract：:Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the ke...

journal_title：Cytogenetic and genome research

authors： Kwon T

更新日期：2015-01-01 00:00:00

abstract：:Despite extensive analyses on the centromere and its associated proteins, detailed studies of centromeric DNA structure have provided limited information about its topography in condensed chromatin. We have developed a method with correlative fluorescence light microscopy and atomic force microscopy that investigates ...

journal_title：Cytogenetic and genome research

authors： Khan WA,Chisholm R,Tadayyon S,Subasinghe A,Norton P,Samarabandu J,Johnston LJ,Knoll JH,Rogan PK

更新日期：2013-01-01 00:00:00

abstract：:A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional ...

journal_title：Cytogenetic and genome research

authors： Camerota L,Pitzianti M,Postorivo D,Nardone AM,Ligas C,Moretti C,Pasini A,Brancati F

更新日期：2017-01-01 00:00:00

abstract：:Stripe rust (Puccinia striiformis tritici (Pst)) is one of the most destructive diseases of wheat in the world. Exploiting and utilizing stripe rust resistance genes of wild species has become an essential strategy for resistance breeding. Psathyrostachyshuashanica Keng ex Kuo is a wild species in Triticeae that has b...

journal_title：Cytogenetic and genome research

authors： Wang Y,Yu K,Xie Q,Kang H,Lin L,Fan X,Sha L,Zhang H,Zhou Y

更新日期：2011-01-01 00:00:00

abstract：:As chromatin structures, telomeres undergo epigenetic regulation of their maintenance and function. In plants, these processes are likely of a higher complexity than in animals or yeasts, as exemplified by methylation of cytosines in plant telomeric DNA or reversible developmental regulation of plant telomerase. We hi...

journal_title：Cytogenetic and genome research

authors： Fojtová M,Fajkus J

更新日期：2014-01-01 00:00:00

abstract：:In animals, supernumerary chromosomes and their evolution have mostly been studied in sexual reproducing species. In the present study, for the first time, the natural distribution and stability of supernumerary microchromosomes were investigated in the unisexual fish species Poecilia formosa. Natural habitats through...

journal_title：Cytogenetic and genome research

authors： Lamatsch DK,Nanda I,Schlupp I,Epplen JT,Schmid M,Schartl M

更新日期：2004-01-01 00:00:00

abstract：:We analyzed repeat sequences composition in the genome of cucumber inbred line 9930 using whole-genome shotgun reads. The analysis showed that satellite DNA sequences are the most dominant components in the cucumber genome. The distribution pattern of several tandem repeat sequences (Type I/II, Type III and Type IV) o...

journal_title：Cytogenetic and genome research

authors： Han YH,Zhang ZH,Liu JH,Lu JY,Huang SW,Jin WW

更新日期：2008-01-01 00:00:00

abstract：:In Europe, 2 different diploid chromosome numbers, 2n = 54 and 2n = 56, have been described in the lesser horseshoe bat (Rhinolophushipposideros). The eastern form with 2n = 56 extends from the Czech Republic to Greece. To date, specimens with 54 chromosomes have been reported only from Spain and Germany. This study e...

journal_title：Cytogenetic and genome research

authors： Kacprzyk J,Teeling EC,Kelleher C,Volleth M

更新日期：2016-01-01 00:00:00

abstract：:Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...

journal_title：Cytogenetic and genome research

authors： Martín A,Cabrera A

更新日期：2005-01-01 00:00:00

abstract：:Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a dele...

journal_title：Cytogenetic and genome research

authors： Hulick PJ,Noonan KM,Kulkarni S,Donovan DJ,Listewnik M,Ihm C,Stoler JM,Weremowicz S

更新日期：2009-01-01 00:00:00

abstract：:A 5-year-old river buffalo cow underwent cytogenetic investigation since it had only one male offspring, apparently with normal body constitution, which died one month after birth. The female carrier had normal body conformation and internal sex adducts, as revealed by rectal palpation performed by a specialist veteri...

journal_title：Cytogenetic and genome research

authors： Di Meo GP,Perucatti A,Genualdo V,Iannuzzi A,Sarubbi F,Caputi-Jambrenghi A,Incarnato D,Peretti V,Vonghia G,Iannuzzi L

更新日期：2011-01-01 00:00:00