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 patients with breast cancer indicated heritability of mutagen sensitivity. It has therefore been suggested that mutations in low-penetrance genes which are possibly involved in DNA repair predispose a substantial portion of breast cancer patients. Chromosomal mutagen sensitivity has been determined with the G2 chromosome aberration test and the G(0) micronucleus test (MNT). However, there seems to be no clear correlation between the results from the two tests, indicating that the inherited defect leading to enhanced G(0) sensitivity is different from that causing G2 sensitivity. Less than 5% of breast cancer patients have a familial form of the disease due to inherited mutations in the breast cancer susceptibility genes BRCA1 or BRCA2. Heterozygous mutations in BRCA1 or BRCA2 in lymphocytes from women with familial breast cancer are also associated with mutagen sensitivity. Differentiation between mutation carriers and controls seems to be much better with the MNT than with the G2 assay. Mutagen sensitivity was detected with the MNT not only after irradiation but also after treatment with chemical mutagens including various cytostatics. The enhanced formation of micronuclei after exposure of lymphocytes to these substances suggests that different DNA repair pathways are affected by a BRCA1 mutation in accordance with the proposed central role of BRCA1 in maintaining genomic integrity. Mutations in BRCA1 and BRCA2 seem to predispose cells to an increased risk of mutagenesis and transformation after exposure to radiation or cytostatics. This raises a question about potentially increased risks by mammography and cancer therapy in women carrying a mutation in one of the BRCA genes. Lymphoblastoid cell lines (LCLs) from breast cancer patients have been used to study the mechanisms and genetic changes associated with tumorigenesis. With respect to mutagen sensitivity, conflicting results have been reported. In particular enhanced induction of micronuclei does not seem to be a general feature of LCLs with a BRCA1 mutation in contrast to lymphocytes with the same mutation. Therefore, LCLs are of limited utility for studying the mechanisms underlying chromosomal mutagen sensitivity.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Speit G,Trenz Kdoi
10.1159/000077511keywords:
subject
Has Abstractpub_date
2004-01-01 00:00:00pages
325-32issue
1-4eissn
1424-8581issn
1424-859Xpii
77511journal_volume
104pub_type
杂志文章,评审abstract::A diploid-like pairing system prevents meiotic irregularities and improves the efficiency of gamete production in allopolyploid species. While the nature of the system is known in some polyploid crops including wheat, little is known about the control of chromosome pairing in polyploid fescues (Festuca spp.). In this ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000207525
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abstract::In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolu...
journal_title:Cytogenetic and genome research
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doi:10.1159/000086388
更新日期:2005-01-01 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
pub_type: 杂志文章
doi:10.1159/000368863
更新日期:2014-01-01 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::Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000082423
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abstract::Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000093334
更新日期:2006-01-01 00:00:00
abstract::RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000078215
更新日期:2004-01-01 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::We review our progress using genomics approaches to examine key antiviral defenses of the White Pekin mallard duck, Anas platyrhynchos. Our interest stems from the fact that ducks are the natural host of avian influenza, and are an important animal model for hepatitis B research. First, we have conducted an expressed ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000103180
更新日期:2007-01-01 00:00:00
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 M...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000072854
更新日期:2003-01-01 00:00:00
abstract::The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidi...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000086905
更新日期:2005-01-01 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::Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000064057
更新日期:2002-01-01 00:00:00
abstract::The 'centromere-from-telomere' hypothesis proposed by Villasante et al. [2007a] aims to explain the evolutionary origin of the eukaryotic chromosome. The hypothesis is based on the notion that the process of eukaryogenesis was initiated by adaptive responses of the symbiont eubacterium and its archaeal host to their n...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000447415
更新日期:2016-01-01 00:00:00
abstract::Sperm chromosome abnormalities cut across a number of areas relevant to ICC XV. The association between increased levels of sperm aneuploidy (usually disomy) and male infertility has implications for the sessions on reproduction, sex chromosomes, aneuploidy and meiosis and was, to the best of our knowledge, first repo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000079575
更新日期:2004-01-01 00:00:00
abstract::Nicotiana rustica (2n = 4x = 48) is a natural allotetraploid composed of P and U genomes which are closely related to genomes of diploid species N. paniculata and N. undulata. Genomic in situ hybridization (GISH) also confirms that the diploid parents, or close relatives, are the ancestors of N. rustica. In order to s...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000082413
更新日期:2005-01-01 00:00:00
abstract::To facilitate the study of the regulation and downstream interactions of genes involved in gonad development it is important to have a suitable cell culture model. We therefore aimed to characterize molecularly three different mouse gonad cell lines. TM3 and TM4 cells were originally isolated from prepubertal mouse go...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000074344
更新日期:2003-01-01 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::For normal transition through meiosis, chromosomes rely on pairing with their homologues. Chromosomes which fail to pair, univalents, behave irregularly and may undergo various types of breakage across their centromeres. Here, we analyzed the meiotic behavior of misdivision products themselves: isochromosomes and telo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000497301
更新日期:2019-01-01 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::This review summarizes older as well as recent data about the model dioecious plant Silene latifolia. This plant has been the subject of more than one hundred years of research efforts and its most conspicuous property is huge and well differentiated heteromorphic sex chromosomes, XX in females and XY in males. Due to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000314285
更新日期:2010-07-01 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
pub_type: 杂志文章
doi:10.1159/000063032
更新日期:2002-01-01 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
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更新日期:2008-01-01 00:00:00
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::XIST encodes a functional RNA that is expressed exclusively from the inactive X in female mammals and is required for the silencing of most of the genes on the chromosome. XIST transcripts remain in the nucleus, and their specific localization to the inactive X is important for silencing; however, it is not known how ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000071579
更新日期:2002-01-01 00:00:00
abstract::An integrated genetic linkage map was developed for the turkey (Meleagris gallopavo) that combines the genetic markers from the three previous mapping efforts. The UMN integrated map includes 613 loci arranged into 41 linkage groups. An additional 105 markers are tentatively placed within linkage groups based on two-p...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000109627
更新日期:2007-01-01 00:00:00
abstract::Previous genetic mapping identified three linkage groups (M1, M18 and M26) in the turkey corresponding to chicken chromosome 1 (GGA1). This is inconsistent with previously described chromosomal differences between these species. FISH analysis of BAC clones corresponding to microsatellite markers from each of the three...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000095239
更新日期:2006-01-01 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::The Ph1 locus in hexaploid wheat (Triticum aestivum L.) enforces diploid-like behavior in the first metaphase of meiosis. To test the hypothesis that this chromosome pairing control is exercised by affecting the degree of chromatin condensation, the dispersion of rye chromatin in interphase nuclei in somatic tissues o...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000112072
更新日期:2007-01-01 00:00:00
abstract::B chromosomes are now known in eight Brazilian rodent species: Akodon montensis, Holochilus brasiliensis, Nectomys rattus, N. squamipes, Oligoryzomys flavescens, Oryzomys angouya, Proechimys sp. 2 and Trinomys iheringi. Typically these chromosomes are heterogeneous relative to size, morphology, banding patterns, prese...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000079296
更新日期:2004-01-01 00:00:00