Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.

abstract：:In birds, females are heterogametic (ZW), while males are homogametic (ZZ). It has been proposed that there is no dosage compensation for the expression of Z-linked genes in birds. In order to examine if the genes are inactivated on one of the two Z chromosomes, we analyzed the allelic expression of the B4GALT1 and CH...

journal_title：Cytogenetic and genome research

authors： Kuroiwa A,Yokomine T,Sasaki H,Tsudzuki M,Tanaka K,Namikawa T,Matsuda Y

更新日期：2002-01-01 00:00:00

abstract：:Transposable elements (TE) constitute one of the most variable genomic features among vertebrates, impacting genome size, structure, and composition. Despite their important role in shaping genomic diversity, they have mostly been studied in mammals, which display one of the least diverse genomes in terms of TE divers...

journal_title：Cytogenetic and genome research

authors： Boissinot S,Bourgeois Y,Manthey JD,Ruggiero RP

更新日期：2019-01-01 00:00:00

abstract：:DNA methylation is an essential epigenetic feature for the regulation and maintenance of heterochromatin. Satellite DNA is a repetitive sequence component that often occurs in large arrays in heterochromatin of subtelomeric, intercalary and centromeric regions. Knowledge about the methylation status of satellite DNA i...

journal_title：Cytogenetic and genome research

authors： Schmidt M,Hense S,Minoche AE,Dohm JC,Himmelbauer H,Schmidt T,Zakrzewski F

更新日期：2014-01-01 00:00:00

abstract：:Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...

journal_title：Cytogenetic and genome research

authors： Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

更新日期：2016-01-01 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：:The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communica...

journal_title：Cytogenetic and genome research

authors： Schneider E,Jensen LR,Farcas R,Kondova I,Bontrop RE,Navarro B,Fuchs E,Kuss AW,Haaf T

更新日期：2012-01-01 00:00:00

abstract：:It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...

journal_title：Cytogenetic and genome research

authors： Wang J,Wang XF,Zhang LG,Xie SY,Li ZL,Li YJ,Li HH,Jiao F

更新日期：2009-01-01 00:00:00

abstract：:The DDX4/VASA gene plays an important role in germ cell development in animals. We cloned and characterized a marsupial DDX4/VASA homolog (TvDDX4, 2,769 bps) from the possum and examined its expression in adult tissues at mRNA and protein levels. The isolated cDNA had a deduced 704 amino acid residues with significant...

journal_title：Cytogenetic and genome research

authors： Cui S,Nanayakkara K,Selwood L

更新日期：2009-01-01 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 Deleted in AZoospermia Like (DAZL) gene is a member of the DAZ family and encodes an RNA-binding protein that is expressed in prenatal and postnatal germ cells of males and females. In the human, there are five highly-related members in the DAZ family, four (DAZ1-4) on the Y chromosome and one (DAZL) on an autosom...

journal_title：Cytogenetic and genome research

authors： Liu WS,Wang A,Uno Y,Galitz D,Beattie CW,Ponce de León FA

更新日期：2007-01-01 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 X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this differ...

journal_title：Cytogenetic and genome research

authors： Raudsepp T,Lear TL,Chowdhary BP

更新日期：2002-01-01 00:00:00

abstract：:The etiology of primary cutaneous T-cell lymphomas (CTCL) has been poorly understood. CTCL patients show a large variety of non-clonal and clonal chromosome aberrations, but no specific aberration has been found until recently. This review describes cytogenetic and molecular cytogenetic findings and their relevance to...

journal_title：Cytogenetic and genome research

authors： Karenko L,Hahtola S,Ranki A

更新日期：2007-01-01 00:00:00

abstract：:A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies u...

journal_title：Cytogenetic and genome research

authors： Martin RH

更新日期：2005-01-01 00:00:00

abstract：:Scapinin has been found to bind to cytoplasmic actin and is also a putative regulatory subunit of protein phosphatase-1 (PP1). It is found attached to the nuclear matrix-intermediate filament (NM-IF) and is down-regulated by differentiation of tumor cells. We have analyzed the genomic structure and tissue-specific exp...

journal_title：Cytogenetic and genome research

authors： Worch S,Fiedler E,Hansmann I,Schlote D

更新日期：2006-01-01 00:00:00

abstract：:Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...

journal_title：Cytogenetic and genome research

authors： Pokorná M,Rens W,Rovatsos M,Kratochvíl L

更新日期：2014-01-01 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：: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 gir...

journal_title：Cytogenetic and genome research

authors： Vozdova M,Fröhlich J,Kubickova S,Sebestova H,Rubes J

更新日期：2017-01-01 00:00:00

abstract：:We studied the organization of mouse satellite 3 and 4 (MS3 and MS4) in comparison with major (MaSat) and minor (MiSat) DNA sequences, located in the centromeric and pericentromeric regions of mouse telocentric chromosomes by fiber-FISH. The centromeric region consists of a small block of MiSat and MS3 followed by a p...

journal_title：Cytogenetic and genome research

authors： Kuznetsova I,Podgornaya O,Ferguson-Smith MA

更新日期：2006-01-01 00:00:00

abstract：:Genome projects allow us to sample copies of a retrotransposon sequence family residing in a host genome. The variation in DNA sequence between these individual copies will reflect the evolutionary process that has spread the sequences through the genome. Here I review quantitatively the expected diversity of elements...

journal_title：Cytogenetic and genome research

authors： Brookfield JF

更新日期：2005-01-01 00:00:00

abstract：:Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...

journal_title：Cytogenetic and genome research

authors： Kono T

更新日期：2006-01-01 00:00:00

abstract：:Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutar...

journal_title：Cytogenetic and genome research

authors： Galetzka D,Weis E,Rittner G,Schindler D,Haaf T

更新日期：2008-01-01 00:00:00

abstract：:Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome s...

journal_title：Cytogenetic and genome research

authors： Ciuladaite Z,Preiksaitiene E,Utkus A,Kučinskas V

更新日期：2014-01-01 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：:Sex-determining mechanisms (SDMs) set an individual's sexual fate by its genotype (genotypic sex determination, GSD) or environmental factors like temperature (temperature- dependent sex determination, TSD), as in turtles where the GSD "trigger" remains unknown. SDMs co-evolve with turtle chromosome number, perhaps be...

journal_title：Cytogenetic and genome research

authors： Lee L,Montiel EE,Navarro-Domínguez BM,Valenzuela N

更新日期：2019-01-01 00:00:00

abstract：:Spontaneous meiotic mutations of winter rye Secale cereale L. (2n = 14) were revealed in inbred F2 progenies, which were obtained by self-pollination of F1 hybrids resulting from crosses of individual plants of cultivar Vyatka or weedy rye with plants of self-fertile inbred lines. The mutations cause partial or comple...

journal_title：Cytogenetic and genome research

authors： Sosnikhina SP,Mikhailova EI,Tikholiz OA,Priyatkina SN,Smirnov VG,Dadashev SY,Kolomiets OL,Bogdanov YF

更新日期：2005-01-01 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：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 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