Abstract:
:Members of the NFAT (nuclear factors of activated T cells) gene family have been investigated in numerous organisms, including man and mouse. All NFATs may be synthesized in several isoforms differing in amino or carboxy termini due to 5' and 3' alternative splicing of the corresponding mRNA. Recently, we mapped the murine Nfat5 gene to chromosome 8D. In the present paper we describe for the first time the complete sequence and primary structure of murine Nfat5, two new spliced isoforms, and the expression of murine Nfat5 in embryonic and adult mouse tissues.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Dalski A,Hebinck A,Winking H,Butzmann U,Schwinger E,Zühlke Chdoi
10.1159/000066604keywords:
subject
Has Abstractpub_date
2002-01-01 00:00:00pages
179-82issue
3-4eissn
1424-8581issn
1424-859Xpii
66604journal_volume
97pub_type
杂志文章abstract::We characterized the DTF2 satellite DNA family of the clam Donaxtrunculus and compared its chromosomal localization with cytogenetic data revealed by fluorochrome banding, C-banding, and 28S rDNA FISH. In contrast to the other satellites detected previously in this species, DTF2 is an abundant (2%) GC-rich satellite t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000200089
更新日期:2009-01-01 00:00:00
abstract::Chromosome homologies in reptiles have been investigated extensively by gene mapping and chromosome painting. Relative chromosome size can be estimated roughly from conventional karyotypes, but chromosome GC content cannot be evaluated by any of these approaches. However, GC content can be obtained by whole-genome seq...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000497265
更新日期:2019-01-01 00:00:00
abstract::Telomeres are the nucleoprotein structures that cap the ends of linear chromosomes. The length of telomeric DNA is an important determinant of function; with short telomeres triggering either replicative senescence or, in the absence of a functional DNA damage response, telomere fusion. Telomere fusion can trigger cyc...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000167817
更新日期:2008-01-01 00:00:00
abstract::Plant meiosis studies have enjoyed a fantastic boom in recent years with the use of Arabidopsis thaliana as a model not only for molecular genetics and genomics but also for cytogenetics. In this article we describe a new protocol for immunolabelling meiotic proteins that allows the detection of a large range of prote...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000314096
更新日期:2010-07-01 00:00:00
abstract::Chromosomal mutagen sensitivity is a common feature of cells from patients with different kinds of cancer. A portion of breast cancer patients also shows an elevated sensitivity to the induction of chromosome damage in cells exposed to ionizing radiation or chemical mutagens. Segregation analysis in families of patien...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000077511
更新日期:2004-01-01 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
pub_type: 杂志文章
doi:10.1159/000086895
更新日期:2005-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000076815
更新日期:2003-01-01 00:00:00
abstract::A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluores...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076304
更新日期:2003-01-01 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
pub_type: 杂志文章
doi:10.1159/000151320
更新日期:2008-01-01 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
pub_type: 杂志文章
doi:10.1159/000076825
更新日期:2003-01-01 00:00:00
abstract::Fat accumulation is a polygenic trait which has a significant impact on human health and animal production. Obesity is also an increasingly serious problem in dog breeding. The FTO and INSIG2 are considered as candidate genes associated with predisposition for human obesity. In this report we present a comparative gen...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000330457
更新日期:2011-01-01 00:00:00
abstract::Reciprocal translocations pose a serious problem in pig breeding due to the reduced fertility of the carriers. This paper presents a new reciprocal translocation in a phenotypically normal, but hypoprolific (20% reduction) boar. Chromosome banding as well as the FISH technique with the use of BAC and telomeric probes ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000355213
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
pub_type: 杂志文章
doi:10.1159/000074165
更新日期:2003-01-01 00:00:00
abstract::A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000479463
更新日期:2017-01-01 00:00:00
abstract::An important aspect of genome reprogramming is the establishment and maintenance of gamete-specific DNA methylation patterns that distinguish the parental alleles of imprinted genes. Disrupting the accurate transmission of genomic imprints by interfering with these methylation patterns causes severe defects in fetal g...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000090822
更新日期:2006-01-01 00:00:00
abstract::18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells rev...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000487371
更新日期:2018-01-01 00:00:00
abstract::Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000184703
更新日期:2008-01-01 00:00:00
abstract::Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to an...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000075746
更新日期:2003-01-01 00:00:00
abstract::The discovery of complex structural variations that exist within individual genomes has prompted a need to visualize chromosomes at a higher resolution than previously possible. To address this concern, we established a robust, high-resolution fluorescence in situ hybridization (FISH) method that utilizes probes deriv...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000322717
更新日期:2011-01-01 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
pub_type: 杂志文章
doi:10.1159/000368649
更新日期:2014-01-01 00:00:00
abstract::X chromosome inactivation and DNA methylation are reviewed, with emphasis on the contributions of Susumu Ohno and the predictions made in my 1975 paper (Riggs, 1975), in which I proposed the "maintenance methylase" model for somatic inheritance of methylation patterns and suggested that DNA methylation would be involv...
journal_title:Cytogenetic and genome research
pub_type: 传,历史文章,杂志文章,评审
doi:10.1159/000071569
更新日期:2002-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000077461
更新日期:2004-01-01 00:00:00
abstract::Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic ch...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000507561
更新日期:2020-01-01 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
pub_type: 杂志文章
doi:10.1159/000497302
更新日期:2019-01-01 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::During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000080806
更新日期:2005-01-01 00:00:00
abstract::An interstitial constriction located on the long arm of rye chromosome 5R (5RL) shows neocentromeric activity at meiosis. In some meiocytes this region is strongly stretched orienting with the true centromere to opposite poles at metaphase I, and keeping sister chromatid cohesion at anaphase I. We found previously tha...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000325744
更新日期:2011-01-01 00:00:00
abstract::The sense of taste is a chemosensory system responsible for basic food appraisal. Humans distinguish between five primary tastes: bitter, sweet, sour, salty and umami. The molecular events in the perception of bitter taste are believed to start with the binding of specific water-soluble molecules to G-protein-coupled ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000068546
更新日期:2002-01-01 00:00:00
abstract::Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Mo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000184713
更新日期:2008-01-01 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
pub_type: 杂志文章
doi:10.1159/000478921
更新日期:2017-01-01 00:00:00