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Structural chromosome aberrations are a predictive biomarker of cancer risk. Conventional chromosome analysis widely used for these purposes detects unstable chromosome aberrations that are eliminated during cell division. Stable aberrations that may persist in the body and tend to accumulate during a lifetime can be detected by fluorescence in situ hybridization (FISH). The aim of the study was to investigate the level of chromosome damage in newly diagnosed cancer patients and control subjects by FISH. Both groups of untreated cancer patients had increased frequency of aberrant cells. However, chromosome damage affected different cytogenetic endpoints. Stable translocations and cells with complex rearrangements were elevated in breast cancer patients whereas unstable chromosome aberrations (dicentric chromosomes and acentric fragments) were elevated in gastrointestinal cancer patients. These associations observed in nonsmokers were typically not pronounced in smokers (with the exception of dicentric chromosomes in gastrointestinal patients). Exposure to tobacco smoke increased aberrations in healthy controls but not in the cancer patients. Our study suggests an association between cancer and stable chromosomal rearrangements in breast cancer patients. Unstable aberrations elevated in gastrointestinal cancer patients may be at least partly ascribed to the exposure to diagnostic X-rays.

Chromosomal polymorphism plays a major role in speciation processes in mammals with high rates of karyotypic evolution, as observed in the family Cervidae. One remarkable example is the genus Mazama that comprises wide inter- and intra-specific chromosomal variability. To evaluate the impact of chromosomal polymorphisms as reproductive barriers within the genus Mazama, inter-specific hybrids between Mazama gouazoubira and Mazama nemorivaga (MGO &times, MNE) and intra-specific hybrids between cytotypes of Mazama americana (MAM) differing by a tandem (TF) or centric fusion (Robertsonian translocations&mdash, RT) were evaluated. MGO &times, MNE hybrid fertility was evaluated by the seminal quality and testicular histology. MAM hybrids estimation of the meiotic segregation products was performed by sperm-FISH analysis. MGO &times, MNE hybrids analyses showed different degrees of fertility reduction, from severe subfertility to complete sterility. Regarding MAM, RT, and TF carriers showed a mean value for alternate segregation rate of 97.74%, and 67.23%, and adjacent segregation rate of 1.80%, and 29.07%, respectively. Our results suggested an efficient post-zygotic barrier represented by severe fertility reduction for MGO &times, MNE and MAM with heterozygous TF. Nevertheless, RT did not show a severe effect on the reproductive fitness in MAM. Our data support the validity of MGO and MNE as different species and reveals cryptic species within MAM.

Made available in DSpace on 2021-06-25T10:27:52Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-07-01 Central European Institute of Technology ASCRS Research Foundation Consejo Nacional de Ciencia, Tecnología e Innovación Tecnológica Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Grantová Agentura České Republiky The genus Mazama stands out among the Neotropical deer due to their wide intra and interspecific karyotypic diversification, which is associated with an accentuated chromosomal fragility. There are reports of heterozygous Robertsonian translocation (RT) carriers in a free-range population of Mazama gouazoubira (brown brocket deer), as well as in captive animals of this and other species of the genus. To analyze possible negative impacts of heterozygous chromosome rearrangements on reproductive fitness of the carriers, we performed an analysis of sperm meiotic segregation in four brown brocket bucks, carriers of a rob(4;16), and compared the results with those of a normal buck. We established a reliable FISH and sperm-FISH protocol for the brown brocket deer using bovine (Bos taurus; diploid number, 2n = 60) whole chromosome painting (WCP) and BAC probes. Using BAC probes, we revealed the presence of a paracentric inversion (PAI) of the fused chromosome 4 in two of the four analyzed RT carriers. The mean frequency of normal/balanced sperm in the translocation carriers was significantly lower than in the normal buck (94.78% vs 98.40%). The mean value of total unbalanced spermatozoa was almost doubled in the RT/PAI carriers (6.68%) when compared to RT carriers (3.76%), but the difference was not statistically significant. This study demonstrated the efficiency of FISH with bovine WCP and BAC probes in the characterization of chromosome rearrangements and gametic segregation patterns in brown brocket deer. Our results indicate a low to moderate increase in the rates of unbalanced meiotic segregation products in brown brocket bucks heterozygous for RT and RT/PAIs. Núcleo de Pesquisa e Conservação de Cervídeos Faculdade de Ciências Agrárias e Veterinárias Universidade Estadual Paulista – NUPECCE/FCAV/UNESP Central European Institute of Technology-Veterinary Research Institute Núcleo de Pesquisa e Conservação de Cervídeos Faculdade de Ciências Agrárias e Veterinárias Universidade Estadual Paulista – NUPECCE/FCAV/UNESP Consejo Nacional de Ciencia, Tecnología e Innovación Tecnológica: 116-2017-FONDECYT FAPESP: 2017/07014-8 FAPESP: 2019/06940-1 Grantová Agentura České Republiky: 20–22517J

Made available in DSpace on 2021-06-25T10:20:49Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01 Fondo Nacional de Desarrollo Científico y Tecnológico Grantová Agentura České Republiky Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Ministerstvo Školství, Mládeže a Tělovýchovy The taxonomy and phylogenetics of Neotropical deer have been mostly based on morpho-logical criteria and needs a critical revision on the basis of new molecular and cytogenetic markers. In this study, we used the variation in the sequence, copy number, and chromosome localization of satellite I-IV DNA to evaluate evolutionary relationships among eight Neotropical deer species. Using FISH with satI-IV probes derived from Mazama gouazoubira, we proved the presence of satellite DNA blocks in peri/centromeric regions of all analyzed deer. Satellite DNA was also detected in the interstitial chromosome regions of species of the genus Mazama with highly reduced chromosome numbers. In contrast to Blastocerus dichotomus, Ozotoceros bezoarticus, and Odocoileus virginianus, Mazama species showed high abundance of satIV DNA by FISH. The phylogenetic analysis of the satellite DNA showed close relationships between O. bezoarticus and B. dichotomus. Furthermore, the Neotropical and Nearctic populations of O. virginianus formed a single clade. However, the satellite DNA phylogeny did not allow resolving the relationships within the genus Mazama. The high abundance of the satellite DNA in centromeres probably contributes to the formation of chromosomal rearrangements, thus leading to a fast and ongoing speciation in this genus, which has not yet been reflected in the satellite DNA sequence diversification. Department of Genetics and Reproductive Biotechnologies Central European Institute of Technology—Veterinary Research Institute, Hudcova 70 Institute of Vertebrate Biology Czech Academy of Sciences, Kvetna 8 Deer Research and Conservation Center (NUPECCE) School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp) Deer Research and Conservation Center (NUPECCE) School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp) Fondo Nacional de Desarrollo Científico y Tecnológico: 116-2017 Grantová Agentura České Republiky: 20-22517J FAPESP: 2019/06940-1-GACR Ministerstvo Školství, Mládeže a Tělovýchovy: LQ1601

In this study, we examined cultural life scripts in two countries, the Czech Republic and Slovakia. The cultural life script is semantic knowledge about culturally shared expectations regarding the order and timing of important life events during an idealised life course. For many decades, Slovakia and the Czech Republic were one country: Czechoslovakia. After a regime change in 1989 and the separation of the Czech Republic and Slovakia in 1993, their two cultures have been evolving and changing independently from one another, making these countries interesting for examining life scripts. We found that the cultural life scripts provided by Slovak and Czech participants shared 25 event categories, representing 89.3% of event categories in the Czech sample and 80.6% of event categories in the Slovak sample (including the category Other). However, participants also reported unique event categories to each culture (10.7% of unique event categories in the Czech sample and 19.4% in the Slovak sample), reflecting the specific cultural characteristics of these two separate countries. Reported events were listed in the same order they are expected to happen during the life span, were mostly positive, and showed a lifespan distribution consistent with the reminiscence bump. Participants showed higher agreement in the age estimates of positive events, compared to neutral and negative ones. Events were mostly social, in contrast to biological events. All these findings are consistent with the life script literature.