Abstract:
:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain MRIs also suggest variability, with prominent cortical as well as cerebellar atrophy. Genetically, SCA12 is caused by a CAG repeat expansion that does not encode polyglutamine; we speculate that the mutation may affect expression of the gene PPP2R2B, which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Holmes SE,O'Hearn E,Margolis RLdoi
10.1159/000072854keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
189-97issue
1-4eissn
1424-8581issn
1424-859Xpii
72854journal_volume
100pub_type
杂志文章,评审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 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::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::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 m...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000066604
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1159/000090812
更新日期:2006-01-01 00:00:00
abstract::Correct imprinting is crucial for normal fetal and placental development in mammals. Experimental evidence in animal models and epidemiological studies in humans suggest that assisted reproductive technologies (ARTs) can interfere with imprinted gene regulation in gametogenesis and early embryogenesis. Bos taurus is a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000322627
更新日期:2011-01-01 00:00:00
abstract::Under specific stress treatments, the microspore can be induced in vitro to deviate from its gametophytic development and to reprogram towards embryogenesis, becoming a totipotent cell and forming haploid embryos. These can further regenerate homozygous plants for production of new isogenic lines, an important biotech...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000365232
更新日期:2014-01-01 00:00:00
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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::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
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journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000084960
更新日期:2005-01-01 00:00:00
abstract::Normal diploid somatic mammalian cell division generates 2 daughter cells as a result of a strict and well-controlled mitotic process. However, some defects during the progression of that process could generate an unbalanced distribution of chromosomes, aneuploidy and eventually, a malignant phenotype. Previous observ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000298794
更新日期:2010-01-01 00:00:00
abstract::During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome banding techniques based on FISH have been developed for the human and for the murine genome. This review focuses on such FISH-banding techniques, which were recent...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000094207
更新日期:2006-01-01 00:00:00
abstract::The lizard genus Gekko consists of over 30 species distributed in Asia and Oceania. From the insular region of East Asia including Japan and Taiwan, 9 species (G. hokouensis, G. japonicus, G. shibatai, G. tawaensis, G. vertebralis,G. yakuensis, and 3 undescribed species) are currently recognized. We made karyological ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000303334
更新日期:2009-01-01 00:00:00
abstract::Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000442068
更新日期:2015-01-01 00:00:00
abstract::Understanding how increased genome size and diversity within polyploid genomes impacts plant evolution and breeding continues to be challenging. Although historical studies by McClintock suggested the importance of transposable elements mediated by polyploidisation on genomic changes, data from plant crosses remain sc...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000353308
更新日期:2013-01-01 00:00:00
abstract::Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000218743
更新日期:2009-01-01 00:00:00
abstract::Neuroglobin and cytoglobin are two novel members of the vertebrate globin family. Their physiological role is poorly understood, although both proteins bind oxygen reversibly and may be involved in cellular oxygen homeostasis. Here we investigate the selective constraints on coding and non-coding sequences of the neur...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078011
更新日期:2004-01-01 00:00:00
abstract::KLF13 and FGFR3 have important cellular functions and each is believed to play a role in cancer. KLF13 is a transcription factor required for the expression of several oncogenes. FGFR3 is a fibroblast growth factor receptor that initiates a signaling cascade leading to the activation of numerous cellular pathways. Her...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000308303
更新日期:2010-06-01 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::The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000106441
更新日期:2007-01-01 00:00:00
abstract::Neacomys (Sigmodontinae) comprises 8 species mainly found in the Amazonian region. We describe 5 new karyotypes from Brazilian Amazonia: 2 cytotypes for N. paracou (2n = 56/FNa = 62-66), 1 for N. dubosti (2n = 64/FNa = 68), and 2 for Neacomys sp. (2n = 58/FNa = 64-70), with differences in the 18S rDNA. Telomeric probe...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000441173
更新日期:2015-01-01 00:00:00
abstract::We previously revealed similarity in gene expression patterns between human brain and testis, based on digital differential display analyses of 760 human Unigenes. In the present work, we reanalyzed the gene expression data in many tissues of human and mouse for a large number of genes almost covering the respective w...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000086378
更新日期:2005-01-01 00:00:00
abstract::The relationship between the apparently random chromosomal changes found in aneuploidy and the genetic instability driving the progression of cancer is not clear. We report a test of the hypothesis that aneuploid chromosomal abnormalities might be selected to preserve cell-survival genes during loss of heterozygosity ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000100406
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.1159/000079286
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
pub_type: 杂志文章
doi:10.1159/000080603
更新日期:2004-01-01 00:00:00
abstract::Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepod Cyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduce...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000494157
更新日期:2018-01-01 00:00:00
abstract::Immunolabeling using site-specific antibodies against phosphorylated histone H3 at serine 10 or serine 28 revealed in plants an almost similar temporal and spatial pattern of both post-translational modification sites at mitosis and meiosis. During the first meiotic division the entire chromosomes are highly H3 phosph...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000074175
更新日期:2003-01-01 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
pub_type: 杂志文章
doi:10.1159/000363485
更新日期:2014-01-01 00:00:00
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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::Acrylamide (AA) is an important industrial chemical used mainly in the production of polymers. It can be absorbed through the skin. AA was shown to be a germ cell clastogen that entails a genetic risk for exposed workers. The genetic risk calculation was based on mouse heritable translocation test data obtained after ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000077501
更新日期:2004-01-01 00:00:00