Telomeric repeats far from the ends: mechanisms of origin and role in evolution.

abstract：:Based on the analysis of 20 different monocot and eudicot species, we propose that the centromeric distribution of the phosphorylated histone H2AThr120 is evolutionary highly conserved across species with mono- and holocentric chromosomes. Therefore, antibodies recognizing the phosphorylated threonine 120 of the histo...

journal_title：Cytogenetic and genome research

authors： Demidov D,Schubert V,Kumke K,Weiss O,Karimi-Ashtiyani R,Buttlar J,Heckmann S,Wanner G,Dong Q,Han F,Houben A

更新日期：2014-01-01 00:00:00

abstract：:Integrase (IN) and reverse transcriptase (RT) play a central role in transposition of retroelements. The mechanism of integration by IN and the steps of the replication process mediated by RT are briefly described here. Recently, active recombinant forms of Ty1 IN and RT have been obtained. This has allowed a more det...

journal_title：Cytogenetic and genome research

authors： Wilhelm FX,Wilhelm M,Gabriel A

更新日期：2005-01-01 00:00:00

abstract：: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 wit...

journal_title：Cytogenetic and genome research

authors： Santoro SL,Hashimoto S,McKinney A,Mihalic Mosher T,Pyatt R,Reshmi SC,Astbury C,Hickey SE

更新日期：2017-01-01 00:00:00

abstract：:Interspaced repetitive DNA elements and segmental duplications have been extensively analyzed in fishes through physical chromosome mapping methods, providing a better comprehension of the structure and organization of the genome of this group. In order to contribute to this scenario, a sequence integration study of d...

journal_title：Cytogenetic and genome research

authors： Sczepanski TS,Vicari MR,de Almeida MC,Nogaroto V,Artoni RF

更新日期：2013-01-01 00:00:00

abstract：:We have identified LIM-kinase (LIMK1 and LIMK2), the only known catalytic protein among LIM-family molecules. Both LIMK1 and LIMK2 phosphorylate (inactivate) cofilin, an actin depolymerizing factor, and induce actin cytoskeleton reorganization. We as well as others concurrently demonstrated that LIMK activation was re...

journal_title：Cytogenetic and genome research

authors： Takahashi H,Funakoshi H,Nakamura T

更新日期：2003-01-01 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：:Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...

journal_title：Cytogenetic and genome research

authors： Both J,Wu T,Ten Asbroek AL,Baas F,Hulsebos TJ

更新日期：2016-01-01 00:00:00

abstract：:Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility h...

journal_title：Cytogenetic and genome research

authors： Perrin A,Basinko A,Douet-Guilbert N,Gueganic N,Le Bris MJ,Amice V,De Braekeleer M,Morel F

更新日期：2011-01-01 00:00:00

abstract：:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...

journal_title：Cytogenetic and genome research

authors： Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

更新日期：2019-01-01 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：:In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...

journal_title：Cytogenetic and genome research

authors： Delgado M,Caperta A,Ribeiro T,Viegas W,Jones RN,Morais-Cecílio L

更新日期：2004-01-01 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：:Huntington's disease (HD) is a genetically dominant neurodegenerative condition caused by an unique mutation in the disease gene huntingtin. Although the Huntington protein (Htt) is ubiquitously expressed, expansion of the polyglutamine tract in Htt leads to the progressive loss of specific neuronal subpopulations in ...

journal_title：Cytogenetic and genome research

authors： Sawa A,Tomoda T,Bae BI

更新日期：2003-01-01 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：:Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-...

journal_title：Cytogenetic and genome research

authors： Abe A,Yamamoto Y,Katsumi A,Yamamoto H,Okamoto A,Inaguma Y,Iriyama C,Tokuda M,Okamoto M,Emi N,Tomita A

更新日期：2020-01-01 00:00:00

abstract：:PCR protocols incorporating fluorescently labeled multiplexed primer combinations were developed to produce a linkage map for bison. Three hundred fifty eight microsatellite loci spanning all 29 autosomes were genotyped via 83 PCR multiplexes and nine individual amplifications. A total of 292 markers were integrated i...

journal_title：Cytogenetic and genome research

authors： Schnabel RD,Taylor JF,Derr JN

更新日期：2003-01-01 00:00:00

abstract：:The osprey (Pandion haliaetus) has a diploid number of 74 chromosomes, consisting of a large number of medium-sized macrochromosomes and relatively few microchromosomes; this differs greatly from the typical avian karyotype. Chromosome painting with chicken DNA probes revealed that the karyotype of P. haliaetus differ...

journal_title：Cytogenetic and genome research

authors： Nishida C,Ishishita S,Yamada K,Griffin DK,Matsuda Y

更新日期：2014-01-01 00:00:00

abstract：:Sequence tagged sites generated for 60 NotI clones (NotI-STSs) from human chromosome 3-specific NotI-jumping and NotI-linking libraries were physically located using PCR screening of a radiation hybrid (RH) GeneBridge4 panel. The NotI map of chromosome 3 was generated using these RH-mapping data and those obtained ear...

journal_title：Cytogenetic and genome research

authors： Sulimova GE,Kutsenko AS,Rakhmanaliev ER,Udina IG,Kompaniytsev AA,Protopopov AI,Moisjak EV,Klimov EA,Muravenko OV,Zelenin AV,Braga EA,Kashuba VI,Zabarovsky ER,Kisselev LL

更新日期：2002-01-01 00:00:00

abstract：:A physical chromosome mapping of the H1 histone and 5S and 18S ribosomal RNA (rRNA) genes was performed in interspecific hybrids of Pseudoplatystoma corruscans and P. reticulatum. The results showed that 5S rRNA clusters were located in the terminal region of 2 chromosomes. H1 histone and 18S ribosomal genes were co-l...

journal_title：Cytogenetic and genome research

authors： Hashimoto DT,Ferguson-Smith MA,Rens W,Prado FD,Foresti F,Porto-Foresti F

更新日期：2013-01-01 00:00:00

abstract：:Retroelements (REs) actively reshape genomes through genomic rearrangements, creation of new genes and modulation of the regulatory machinery of existing genes, thus introducing genomic novelties which potentially may be subject to natural selection. Thousands of RE integrations, presumably distinguishing the human an...

journal_title：Cytogenetic and genome research

authors： Buzdin A,Vinogradova T,Lebedev Y,Sverdlov E

更新日期：2005-01-01 00:00:00

abstract：:Translocations involving chromosomal region 19q13 are a frequent finding in follicular adenomas of the thyroid and might represent the most frequent type of structural aberration in human epithelial tumors. By positional cloning, a putative candidate gene, ZNF331 (formerly RITA) located close to the breakpoint was ide...

journal_title：Cytogenetic and genome research

authors： Meiboom M,Murua Escobar H,Pentimalli F,Fusco A,Belge G,Bullerdiek J

更新日期：2003-01-01 00:00:00

abstract：:Turtle karyotypes are highly conserved compared to other vertebrates; yet, variation in diploid number (2n = 26-68) reflects profound genomic reorganization, which correlates with evolutionary turnovers in sex determination. We evaluate the published literature and newly collected comparative cytogenetic data (G- and ...

journal_title：Cytogenetic and genome research

authors： Montiel EE,Badenhorst D,Lee LS,Literman R,Trifonov V,Valenzuela N

更新日期：2016-01-01 00:00:00

abstract：:Most human cancers are characterized by genomic instability. Changes associated with such may result in altered expression of numerous genes. The sequence information available in the public databases can be used to identify transcripts differentially expressed in cancers. Determining cancer-related genes that are com...

journal_title：Cytogenetic and genome research

authors： Chen S,Zhu B,Yu L

更新日期：2006-01-01 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：:Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...

journal_title：Cytogenetic and genome research

authors： Mayo S,Monfort S,Roselló M,Orellana C,Oltra S,Armstrong J,Català V,Martínez F

更新日期：2011-01-01 00:00:00

abstract：:The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...

journal_title：Cytogenetic and genome research

authors： Boneker C,Kuiper H,Drögemüller C,Chowdhary BP,Distl O

更新日期：2006-01-01 00:00:00

abstract：:Spectral karyotyping (SKY) was used to assess the chromosomal constitution of embryos generated by nuclear transfer (NT) of neuronal nuclei (N-NT) or cumulus cell nuclei (C-NT) into oocytes and of their embryonic stem cell derivatives (ntES cells). We detected chromosomal changes during the first mitotic cleavage and ...

journal_title：Cytogenetic and genome research

authors： Osada T,Kakazu N,Watanabe M,Yamane H,Yagi T

更新日期：2009-01-01 00:00:00

abstract：:The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...

journal_title：Cytogenetic and genome research

authors： Matsubara K,Kumazawa Y,Ota H,Nishida C,Matsuda Y

更新日期：2019-01-01 00:00:00

abstract：:Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have ...

journal_title：Cytogenetic and genome research

authors： Fogu G,Campus PM,Cambosu F,Moro MA,Sanna R,Fozza C,Nieddu RM,Longinotti M,Montella A

更新日期：2012-01-01 00:00:00

abstract：:It is widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle be repaired either by non-homologous endjoining (NHEJ), or homology directed re...

journal_title：Cytogenetic and genome research

authors： Iliakis G,Wang H,Perrault AR,Boecker W,Rosidi B,Windhofer F,Wu W,Guan J,Terzoudi G,Pantelias G

更新日期：2004-01-01 00:00:00