Abstract:
:Sources of environmental exposures to potentially aneugenic agents are many and include occupational and therapeutic exposures, and exposures associated with lifestyle habits. In this present study, some of these agents and exposure scenarios are discussed that involve potentially large population targets and/or seem to affect chromosome segregation by previously unsuspected mechanisms: metals, possibly acting by epigenetic mechanisms; nano-sized particles that might directly interact with subcellular components of the mitotic and meiotic machineries; cytostatic drugs in healthcare occupations; anticancer therapies potentially affecting the genetic integrity of gametes; continuously increasing electromagnetic field exposures with some sparse evidence of aneugenic activity; endocrine disruptors and their seemingly elusive effects in mouse oocytes, including the first evidence that prenatal exposure could affect meiotic nondisjunction in adult life. Hazards are considered for both somatic cells at risk of neoplastic transformation or tumour progression by chromosome loss and gain and germ cells at risk of heritable aneuploidies associated with spontaneous abortions or genetic diseases. Finally, possible synergistic interactions between environmental exposure and ageing or genetic predisposition are considered that could influence ultimate risks.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Pacchierotti F,Eichenlaub-Ritter Udoi
10.1159/000323284subject
Has Abstractpub_date
2011-01-01 00:00:00pages
254-68issue
2-4eissn
1424-8581issn
1424-859Xpii
000323284journal_volume
133pub_type
杂志文章,评审abstract::Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000330917
更新日期:2011-01-01 00:00:00
abstract::The identification of individual dog chromosomes is problematic because the 38 pairs of autosomes are small and acrocentric. Here we describe the design and application of a FISH tool that enables definitive identification of each dog autosome in a normal karyotype, without relying on subjective interpretation of DAPI...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000098187
更新日期:2007-01-01 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::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::We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with ep...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000438502
更新日期:2015-01-01 00:00:00
abstract::Transposable elements are disproportionately abundant in the heterochromatin of Drosophila melanogaster. Among the forces contributing to this bias in genomic distribution, fixation due to positive selection has been put forward. We have studied I-related elements which are located in pericentromeric heterochromatin a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000084950
更新日期:2005-01-01 00:00:00
abstract::DNA methylation has been implicated in mammalian development. Transcription units contain CpG islands, but expression of CpG island associated genes in normal tissues was not believed to be controlled by DNA methylation. There are, however, numerous CpG islands containing tissue-dependent and differentially methylated...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078205
更新日期:2004-01-01 00:00:00
abstract::In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000079306
更新日期:2004-01-01 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 hitherto undescribed satellite DNA family (AvaII satDNA) has been isolated and characterised in Eumeces schneideri, a squamate reptile belonging to the family Scincidae. AvaII satDNA is characterised by a monomer length of 208 bp, a GC content of 59% and exhibits a certain degree of CpG methylation. FISH experiments...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000235933
更新日期:2009-01-01 00:00:00
abstract::Breast cancer is a complex and heterogeneous disease, and the establishment of cell models in order to properly study the disease at the molecular and cellular level is of utmost importance. Here, we present the cytogenetic characterization and gene expression analysis of the tumoral mammary rat cell line CLS-ACI-1. T...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000441374
更新日期:2015-01-01 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 Congo African grey parrot (Psittacus erithacus, PER) is an endemic species of Central Africa, valued for its intelligence and listed as vulnerable due to poaching and habitat destruction. Improved knowledge about the P. erithacus genome is needed to address key biological questions and conservation of this species...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000444136
更新日期:2015-01-01 00:00:00
abstract::Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000094217
更新日期:2006-01-01 00:00:00
abstract::Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000452923
更新日期:2016-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000108320
更新日期:2007-01-01 00:00:00
abstract::High density livestock to human comparative maps are necessary for the implementation of comparative positional candidate gene cloning. We have constructed a high-density comparative radiation hybrid (RH) map of the telomeric end of bovine chromosome 2 (BTA2) using a 12,000-rad whole genome cattle-hamster radiation hy...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076295
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::The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct MAPT haplot...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000315901
更新日期:2010-01-01 00:00:00
abstract::Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are nonin...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000509845
更新日期:2020-01-01 00:00:00
abstract::2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000452090
更新日期:2016-01-01 00:00:00
abstract::Recent studies of the LTR-retrotransposons of Schizosaccharomyces pombe have shed considerable light on their evolution and function. The sequencing of the S. pombe genome allowed analysis of its transposon content. This analysis provides information about the maintenance and loss of transposons in the genome. The res...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000084990
更新日期:2005-01-01 00:00:00
abstract::The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000095229
更新日期:2006-01-01 00:00:00
abstract::We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000336201
更新日期:2012-01-01 00:00:00
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::Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These fa...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000184693
更新日期:2008-01-01 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 ability to prepare single-stranded chromosomal target DNA allows innovative uses of FISH technology for studies of chromosome organization. Standard FISH methodologies require functionally single-stranded DNAs in order to facilitate hybridization between the probe and the complementary chromosomal target sequence....
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000079565
更新日期:2004-01-01 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::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