28 research outputs found
Chromosome Evolution in New World Monkeys (Platyrrhini)
No full textDuring the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical primates. In this review, we first provide an overview about the evolutionary origin of the inferred ancestral NWM karyotype of 2n = 54 chromosomes and about the lineage-specific chromosome rearrangements resulting in the highly divergent karyotypes of extant NWM species, ranging from 2n = 16 in a titi monkey to 2n = 62 in a woolly monkey. Next, we discuss the available data on the chromosome phylogeny of NWM in the context of recent molecular phylogenetic analyses. In the last part, we highlight some recent research on the molecular mechanisms responsible for the large-scale evolutionary genomic changes in platyrrhine monkeys. Copyright (C) 2012 S. Karger AG, Base
The evolutionary history of human chromosome 7
No full textWe report on a comparative molecular cytogenetic and in silico study on evolutionary changes in human chromosome 7 homologs in all major primate lineages. The ancestral mammalian homologs comprise two chromosomes (7a and 7b/16p) and are conserved in carnivores. The subchromosomal organization of the ancestral primate segment 7a shared by a lemur and higher Old World monkeys is the result of a paracentric inversion. The ancestral higher primate chromosome form was then derived by a fission of 7b/16p, followed by a centric fusion of 7a/7b as observed in the orangutan. In hominoids two further inversions with four distinct breakpoints were described in detail: the pericentric inversion in the human/African ape ancestor and the paracentric inversion in the common ancestor of human and chimpanzee. FISH analysis employing BAC probes confined the 7p22.1 breakpoint of the pericentric inversion to 6.8 Mb on the human reference sequence map and the 7q22.1 breakpoint to 97.1 Mb. For the paracentric inversion the breakpoints were found in 7q11.23 between 76.1 and 76.3 Mb and in 7q22.1 at 101.9 Mb. All four breakpoints were flanked by large segmental duplications. Hybridization patterns of breakpoint-flanking BACs and the distribution of duplicons suggest their presence before the origin of both inversions. We propose a scenario by which segmental duplications may have been the cause rather than the result of these chromosome rearrangement
Inter- and intra-specific gene-density-correlated radial chromosome territory arrangements are conserved in Old World monkeys
No full textRecently it has been shown that the gene-density correlated radial distribution of human 18 and 19 homologous chromosome territories (CTs) is conserved in higher primates in spite of chromosomal rearrangements that occurred during evolution. However, these observations were limited to apes and New World monkey species. In order to provide further evidence for the evolutionary conservation of gene-density-correlated CT arrangements, we extended our previous study to Old World monkeys. They comprise the remaining species group to be analyzed in order to obtain a comprehensive overview of the nuclear topology of human 18 and 19 homologous CTs in higher primates. In the present study we investigated four lymphoblastoid cell lines from three species of Old World monkeys by three-dimensional fluorescence in situ hybridization (3D-FISH): two individuals of Japanese macaque ( Macaca fuscata), crab-eating macaque ( Macaca fascicularis), and an interspecies hybrid individual between African green monkey (Cercopithecus aethiops) and Patas monkey ( Erythrocebus patas). Our data demonstrate that gene-poor human 18 homologous CTs are located preferentially close to the nuclear periphery, whereas gene-dense human 19 homologous CTs are oriented towards the nuclear center in all cell lines analyzed. The gene-density-correlated positioning of human 18 and 19 homologous CTs is evolutionarily conserved throughout all major higher primate lineages, despite chromosomal inversions, fusions, fissions or reciprocal translocations that occurred in the course of evolution in these species. This remarkable preservation of a gene-density-correlated chromatin arrangement gives further support for a functionally relevant higher-order chromatin architecture. Copyright (C) 2005 S. Karger AG, Basel
EFFECT OF CLUSTERING ON ELECTRONIC RADIATIONLESS DECAY: THE SUPPRESSION OF ``CHANNEL THREE'' IN BENZENE COMPLEXES
No full text. Riedle, H. J. Neusser and E. W. Schlag, Phil. Trans, R. Soc. Lond. A332, 189 (1990), and references therein.""Author Institution: Department of Chemistry, University of Pennsylvania``Channel Three” refers to the intramolecular mechanism responsible for the sudden and anomalous fluorescence quenching at about above the origin of the benzene state. Previous found high rotational selectivity in Channel Three, suggesting that Channel Three is promoted by rotation induced vibrational mixing. This hypothesis is born out in the study of the fluorescence decay in benzene/acetylene complexes. Dramatic increase in fluorescence lifetimes and yields, in comparison with the benzene molecule, in the Channel Three region was observed in certain structural isomers of the benzene/acetylene complexes in which the molecular rotation of benzene along its top axis is hindered by intermolecular interactions
Quality of life and healthcare costs of patients with allergic respiratory diseases: a cross-sectional study
No full textHillerich V, Valbert F, Neusser S, et al. Quality of life and healthcare costs of patients with allergic respiratory diseases: a cross-sectional study. European Journal of Health Economics. 2023.BACKGROUND: Allergic rhinitis (AR) and allergic asthma (AA) are chronic respiratory diseases that represent a global health problem. One aim of this study was to analyze the Health-related Quality of Life (HRQoL) of the patients in order to identify statistically significant influencing factors that determine HRQoL. Another aim was to assess and analyze data on cost-of-illness from a statutory health insurance perspective.; METHODS: The EQ-5D-5L was used to evaluate the patients' HRQoL. To identify the factors influencing the HRQoL, a multinomial logistic regression analysis was conducted using groups based on the EQ-5D-5L index value as dependent variable. Routine data were analyzed to determine total healthcare costs.; RESULTS: The average EQ-5D-5L index was 0.85 (SD 0.20). A high age, the amount of disease costs, low internal health-related control beliefs and high ozone exposure in the residential area were found to be statistically significant influencing factors for a low HRQoL, whereas low age, male sex and a good possibility to avoid the allergens were found to be statistically significant factors influencing a high HRQoL. On average, the study participants incurred annual costs of 3072 (SD: 3485), of which 699 (SD: 743) could be assigned to allergic respiratory diseases.; CONCLUSIONS: Overall, the patients in the VerSITA study showed a high level of HRQoL. The identified influencing factors can be used as starting points for improving the HRQoL of patients with allergic respiratory diseases. From the perspective of a statutory health insurance, per person expenditures for allergic respiratory diseases are rather low. © 2023. The Author(s)
Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2)
No full textAbstract Background In order to obtain insights into the functionality of the human 4q35.2 domain harbouring the facioscapulohumeral muscular dystrophy (FSHD) locus, we investigated in African apes genomic and chromatin organisations, and the nuclear topology of orthologous regions. Results A basic block consisting of short D4Z4 arrays (10–15 repeats), 4q35.2 specific sequences, and approximately 35 kb of interspersed repeats from different LINE subfamilies was repeated at least twice in the gorilla 4qter. This genomic organisation has undergone evolutionary remodelling, leading to the single representation of both the D4Z4 array and LINE block in chimpanzee, and the loss of the LINE block in humans. The genomic remodelling has had an impact on 4qter chromatin organisation, but not its interphase nuclear topology. In comparison with humans, African apes show very low or undetectable levels of FRG1 and FRG2 histone 4 acetylation and gene transcription, although histone deacetylase inhibition restores gene transcription to levels comparable with those of human cells, thus indicating that the 4qter region is capable of acquiring a more open chromatin structure. Conversely, as in humans, the 4qter region in African apes has a very peripheral nuclear localisation. Conclusion The 4q subtelomere has undergone substantial genomic changes during evolution that have had an impact on chromatin condensation and the region's transcriptional regulation. Consequently, the 4qter genes in African apes and humans seem to be subjected to a different strategy of regulation in which LINE and D4Z4 sequences may play a pivotal role. However, the effect of peripheral nuclear anchoring of 4qter on these regulation mechanisms is still unclear. The observed differences in the regulation of 4qter gene expression between African apes and humans suggest that the human 4q35.2 locus has acquired a novel functional relevance.</p
'I usually never got involved': understanding reasons for secondary students with visual impairments leaving mainstream schooling in Germany
No full textThis article was supported by the Open Access Publication Fund of Humboldt-Universität zu Berlin.The study aims for identifying the driving forces that lead German children with VI to switch from mainstream schooling to special schooling. The results are intended to provide more understanding from the perspective of these students about how school settings for students with and without visual impairment can be designed with as few barriers as possible to meet these students’ specific needs. Six female and four male students, who have been schooled inclusively during their school career and then made the decision to be educated in the upper Gymnasium (grammar school) classes at a special school participated in the present study. It is apparent that all of the students had extensive experiences of exclusion in mainstream schooling. The results show perceived barriers on the school and instructional-organisational level, as well as problems on the level of social-emotional relationships with fellow students and teachers. It is evident that the perception of barriers increases with the length of school attendance and that private supplementary involvement is described as the most important resource. In consideration of the results a two-level model of school inclusion barriers for children with VI is presented.Peer Reviewe
Distinct nuclear orientation patterns for mouse chromosome 11 in normal B lymphocytes
No full textBackground Characterizing the nuclear orientation of chromosomes in the three-dimensional (3D) nucleus by multicolor banding (mBANDing) is a new approach towards understanding nuclear organization of chromosome territories. An mBANDing paint is composed of multiple overlapping subchromosomal probes that represent different regions of a single chromosome. In this study, we used it for the analysis of chromosome orientation in 3D interphase nuclei. We determined whether the nuclear orientation of the two chromosome 11 homologs was random or preferential, and if it was conserved between diploid mouse Pre B lymphocytes of BALB/c origin and primary B lymphocytes of congenic [T38HxBALB/c]N wild-type mice. The chromosome orientation was assessed visually and through a semi-automated quantitative analysis of the radial and angular orientation patterns observed in both B cell types. Results Our data indicate that there are different preferential patterns of chromosome 11 orientation, which are not significantly different between both mouse cell types (p?>?0.05). In the most common case for both cell types, both copies of chromosome 11 were oriented in parallel with the nuclear border. The second most common pattern in both types of B lymphocytes was with one homolog of chromosome 11 positioned with its telomeric end towards the nuclear center and with its centromeric end towards the periphery, while the other chromosome 11 was found parallel with the nuclear border. In addition to these two most common orientations present in approximately 50% of nuclei from each cell type, other orientations were observed at lower frequencies. Conclusions We conclude that there are probabilistic, non-random orientation patterns for mouse chromosome 11 in the mouse B lymphocytes we investigated (p?<?0.0001).ImPhys/Imaging PhysicsApplied Science
