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), glutaredoxin (GLRX), and polo-like kinase 2 (PLK2), that were misregulated in untreated primary fibroblasts from three unrelated FA-D2 patients, compared to six controls. Quantitative real-time RT PCR was used to validate these results and to study possible molecular links between FA-D2 and other FA subtypes. GLRX was misregulated to opposite directions in a variety of different FA subtypes. Increased CTSB and decreased PLK2 expression was found in all or almost all of the analyzed complementation groups and, therefore, may be related to the defective FA pathway. Transcriptional upregulation of the CTSB proteinase appears to be a secondary phenomenon due to proliferation differences between FA and normal fibroblast cultures. In contrast, PLK2 is known to play a pivotal role in processes that are linked to FA defects and may contribute in multiple ways to the FA phenotype: PLK2 is a target gene for TP53, is likely to function as a tumor suppressor gene in hematologic neoplasia, and Plk2(-/-) mice are small because of defective embryonal development.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Galetzka D,Weis E,Rittner G,Schindler D,Haaf Tdoi
10.1159/000124375subject
Has Abstractpub_date
2008-01-01 00:00:00pages
10-3issue
1eissn
1424-8581issn
1424-859Xpii
000124375journal_volume
121pub_type
杂志文章abstract::Cytogenetic investigations performed in eight Portuguese cattle breeds revealed the presence of rob(1;29) in both heterozygous and homozygous conditions in all, and five breeds, respectively, with variable percentages of carriers as follows: 41.0% in Arouquesa, 69.9% in Barrosa, 39.4% in Maronesa, 2.8% in Mirandesa, 8...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000118755
更新日期:2008-01-01 00:00:00
abstract::R-banding chromosomal studies of 21 species of Lemuriformes allowed us to reconstruct the presumed ancestral karyotype of all the Lemuriformes except for Daubentoniidae and permitted the construction of their phylogenetic tree. Chromosome painting with fluorescently labeled heterologous DNA probes permitted comparativ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000080816
更新日期:2005-01-01 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
pub_type: 杂志文章
doi:10.1159/000230004
更新日期:2009-01-01 00:00:00
abstract::A single female with 206 chromosomes and another 26 females with 156 chromosomes identified as Prussian carp, Carassius gibelio, and 5 individuals with 100 chromosomes identified as crucian carp, C. carassius, were sampled during field survey in one locality in the upper Elbe River. To identify the origin of females w...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000350689
更新日期:2013-01-01 00:00:00
abstract::We report on the conventional cytogenetic and fluorescence in situ hybridization (FISH) results obtained for a 3.5-year-old girl with developmental and language delay and a supernumerary ring chromosome mosaicism in 8% of T-lymphocytes analyzed. Using different conventional and molecular cytogenetic techniques as YAC ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076285
更新日期:2003-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000094227
更新日期:2006-01-01 00:00:00
abstract::The T2 family of miniature inverted-repeat transposable elements (T2-MITE) is a prevalent MITE family found in both Xenopus(Silurana) tropicalis and X. laevis. Some subfamilies, particularly T2-A1 and T2-C, may have originated prior to the diversification of the 2 Xenopus lineages and currently include active members ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000430764
更新日期:2015-01-01 00:00:00
abstract::Birds have a ubiquitous, female heterogametic, ZW sex chromosome system. The current model suggests that the Z chromosome and its degraded partner, the W chromosome, evolved from an ancestral pair of autosomes independently from the mammalian XY male heteromorphic sex chromosomes--which are similar in size, but not ge...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000103170
更新日期:2007-01-01 00:00:00
abstract::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 ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000464268
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1159/000478684
更新日期:2017-01-01 00:00:00
abstract::The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000085669
更新日期:2005-01-01 00:00:00
abstract::There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Th...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000075756
更新日期:2003-01-01 00:00:00
abstract::In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000477707
更新日期:2017-01-01 00:00:00
abstract::The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000435778
更新日期:2015-01-01 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
pub_type: 杂志文章
doi:10.1159/000443625
更新日期:2015-01-01 00:00:00
abstract::Osteosarcoma (OS) is characterized by an unstable karyotype which typically has a heterogeneous pattern of complex chromosomal abnormalities. High-resolution array comparative genomic hybridization (CGH) in combination with interphase fluorescence in situ hybridization (FISH) analyses provides a complete description o...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000151310
更新日期:2008-01-01 00:00:00
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
pub_type: 杂志文章,评审
doi:10.1159/000077471
更新日期:2004-01-01 00:00:00
abstract::Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000368138
更新日期:2014-01-01 00:00:00
abstract::Gross chromosomal rearrangements and aneuploidy are among the most common somatic genomic abnormalities that occur during cancer initiation and progression, in particular in human solid tumor carcinogenesis. The loss of large chromosomal regions as consequence of gross rearrangements (e.g. deletions, monosomies, unbal...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000072844
更新日期:2003-01-01 00:00:00
abstract::Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somat...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000118745
更新日期:2008-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000084970
更新日期:2005-01-01 00:00:00
abstract::De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited. By microdissection of the derivative chromosomes and their normal hom...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000337923
更新日期:2012-01-01 00:00:00
abstract::An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The h...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000446141
更新日期:2016-01-01 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
pub_type: 杂志文章
doi:10.1159/000355001
更新日期:2013-01-01 00:00:00
abstract::The karyotype of the pine woods treefrog, Hyla femoralis, is characterized by primitive XY female/XX male sex chromosomes. The sole difference between the X and the Y is the presence of a nucleolus organizer region (NOR) in the X. Due to a deletion of the NOR in the Y, this chromosome is distinctly smaller than the X....
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000073421
更新日期:2003-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000323980
更新日期:2011-01-01 00:00:00
abstract::Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences i...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000507645
更新日期:2020-01-01 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
pub_type:
doi:10.1159/000511235
更新日期:2020-12-14 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
pub_type: 杂志文章
doi:10.1159/000353845
更新日期:2013-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000338437
更新日期:2012-01-01 00:00:00