Methyl farnesoate (MF) plays hormonal regulatory roles in crustaceans. An epoxidated form of MF, known as juvenile hormone (JH), controls metamorphosis and stimulates reproduction in insects. To address the evolutionary significance of MF epoxidation, we generated mosquitoes completely lacking either of the two enzymes that catalyze the last steps of MF/JH biosynthesis and epoxidation, respectively: the JH acid methyltransferase (JHAMT) and the P450 epoxidase CYP15 (EPOX). jhamt-/- larvae lacking both MF and JH died at the onset of metamorphosis. Strikingly, epox-/- mutants, which synthesized MF but no JH, completed the entire life cycle. While epox-/- adults were fertile, the reproductive performance of both sexes was dramatically reduced. Our results suggest that although MF can substitute for the absence of JH in mosquitoes, it is with a significant fitness cost. We propose that MF can fulfill most roles of JH, but its epoxidation to JH was a key innovation providing insects with a reproductive advantage.

• MeSH
• Aedes enzymologie   genetika   MeSH
• biologická proměna MeSH
• genetická zdatnost * MeSH
• juvenilní hormony biosyntéza   MeSH
• molekulární evoluce * MeSH
• nenasycené mastné kyseliny metabolismus   MeSH
• rozmnožování MeSH
• seskviterpeny metabolismus   MeSH
• sexuální chování zvířat MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

Toxoplasma gondii is a common protozoan parasite that infects warm-blooded animals throughout the world, including mice and humans. During infection, both, the parasite and the host, utilize various mechanisms to maximize their own reproductive success. Mice and humans are both the intermediate hosts for Toxoplasma gondii, which forms specialized vacuoles containing reproductive cysts in the formers' tissue. As half of the human population is infected, developing a disease called toxoplasmosis, along with an ever-growing number of couples suffering with idiopathic infertility, it is therefore surprising that there is a lack of research on how Toxoplasma gondii can alter reproductive parameters. In this study, a detailed histometric screening of the testicular function along with the levels of the pituitary luteinizing hormone (LH) were analysed in infected mice. Data on relative testis and epididymis weight, and sperm count were also collected. Based on the results obtained, the level of LH in the urine of Toxoplasma gondii infected mice was lower compared to the control. In direct correlation with the hormone level, testicular function and sperm production was also significantly lower in Toxoplasma gondii positive group using sperm count and histometric analysis as a marker. Not only were the number of leptotene primary spermatocytes and spermatids lowered, but the number of Sertoli cells and the tubule diameter were elevated. In parallel, a pilot epigenetic study on global testicular methylation, and specific methylation of Crem, Creb1 and Hspa1genes essential for successfully ongoing spermatogenesis was performed. Global methylation was elevated in Toxoplasma infected mice, and differences in the DNA methylation of selected genes were detected between the Toxoplasma positive and control group. These findings demonstrate a direct relation between Toxoplasma gondii infection and the decrease of male reproductive fitness in mice, which may contribute to an increase of idiopathic infertility in humans.

• MeSH
• CpG ostrůvky MeSH
• epididymis metabolismus   parazitologie   patologie   MeSH
• epigeneze genetická MeSH
• exprese genu MeSH
• genetická zdatnost genetika   MeSH
• interakce hostitele a parazita MeSH
• lidé MeSH
• luteinizační hormon genetika   metabolismus   MeSH
• metylace DNA MeSH
• modulátor elementu responzivního pro cyklický AMP genetika   metabolismus   MeSH
• myši inbrední C57BL MeSH
• myši MeSH
• oligospermie MeSH
• protein vázající element responzivní pro cyklický AMP genetika   metabolismus   MeSH
• proteiny tepelného šoku HSP70 genetika   metabolismus   MeSH
• semenotvorné kanálky metabolismus   parazitologie   patologie   MeSH
• Sertoliho buňky metabolismus   parazitologie   patologie   MeSH
• spermie metabolismus   patologie   MeSH
• Toxoplasma patogenita   fyziologie   MeSH
• toxoplazmóza zvířat genetika   metabolismus   parazitologie   patologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populations and may thus be considered a Slavic founder mutation. Notably, not a single parenthood of a homozygous c.657del5 carrier has been reported to date, while heterozygous carriers do reproduce but have an increased cancer risk. These observations seem to conflict with the considerable carrier frequency of c.657del5 of 0.5% to 1% as observed in different Slavic populations because deleterious mutations would be eliminated quite rapidly by purifying selection. Therefore, we propose that heterozygous c.657del5 carriers have increased reproductive success, i.e., that the mutation confers heterozygote advantage. In fact, in our cohort study of the reproductive history of 24 NBS pedigrees from the Czech Republic, we observed that female carriers gave birth to more children on average than female non-carriers, while no such reproductive differences were observed for males. We also estimate that c.657del5 likely occurred less than 300 generations ago, thus supporting the view that the original mutation predated the historic split and subsequent spread of the 'Slavic people'. We surmise that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination, akin to the previously described role of the DNA repair genes BRCA1 and BRCA2.

• MeSH
• detekce genetických nosičů MeSH
• dospělí MeSH
• efekt zakladatele * MeSH
• haplotypy MeSH
• jaderné proteiny genetika   MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace * MeSH
• oprava DNA MeSH
• poškození DNA MeSH
• proteiny buněčného cyklu genetika   MeSH
• rozmnožování genetika   MeSH
• syndrom Nijmegen breakage etnologie   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH

Chromozomové aberace jsou častou příčinou časných reprodukčních ztrát. Možnou přítomnost chromozomové aberace je možné ověřit cytogenetickým vyšetřením tkáně potraceného plodu. V rámci naší studie na Ústavu biologie a lékařské genetiky 1. lékařské fakulty Univerzity Karlovy a Všeobecné fakultní nemocnice v Praze jsme analyzovali vzorek tkáně u 233 případů časných spontánních či zamlklých potratů. Ve 212 případech byla kultivace úspěšná a celkem v 52 případech (24,5 %) byla zachycena chromozomová aberace – nejčastěji trizomie chromozomu 21, monozomie chromozomu X, triploidie a trizomie chromozomů 16 a 22. Celková četnost chromozomových aberací byla v našem souboru spíše nižší oproti obdobným studiím. I s ohledem na další ukazatele předpokládáme, že by příčinou mohla být kontaminace některých vzorků mateřskými buňkami, což ale nelze u rutinního cytogenetického vyšetření předem vyloučit. Dále jsme v rámci studie potvrdili vyšší četnost chromozomových aberací v případech s vyšším věkem matky a dále pak častější zastoupení chromozomových aberací v případech potratu ve vyšších týdnech těhotenství. Tyto nálezy byly statisticky významné.

Chromosomal aberrations are common cause of early miscarriage. Possible presence of chromosomal aberration may be assessed by cytogenetic examination of the aborted fetus tissue. In our study from the Institute of Biology and Medical Genetics of the First Faculty of Medicine of Charles University and General University Hospital in Prague we analysed tissue sample from 233 early spontaneous or missed abortions. In 212 cases the cultivation process was successful. Among those – we identified 52 cases with chromosomal aberration (24,5 %). Most common aberrations were – trisomy 21, monosomy X, triploidy and trisomies of chromosomes 16 and 22. Our overall incidence of aberrations was lower – compared to similar studies. According to other indicators we suppose that this may be caused by the higher incidence of maternal cells contamination – but this phenomenon cannot be completely excluded while using classical karyotyping. We also confirmed higher incidence of chromosomal aberrations in the miscarriage cases in elder mothers and furthermore we found higher incidence of aberrations in cases from higher gestation weeks. Both trends were statistically significant.

• Klíčová slova
• reprodukční ztráty,
• MeSH
• chromozomální aberace * embryologie   klasifikace   statistika a číselné údaje   MeSH
• cytogenetické vyšetření statistika a číselné údaje   MeSH
• genetická zdatnost MeSH
• karyotypizace statistika a číselné údaje   MeSH
• lidé MeSH
• potracený plod abnormality   cytologie   MeSH
• retrospektivní studie MeSH
• rozmnožování genetika   MeSH
• samovolný potrat epidemiologie   etiologie   MeSH
• těhotenství MeSH
• věkové faktory MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Mosquitoes are known to be vectors of numerous diseases leading to human morbidity and mortality at large scale in the world. Insecticide resistance has become a serious concern in controlling the insect vectors of public health importance. Dimethoate is an organophosphate insecticide used to control different insect pests including mosquitoes. Biological parameters of susceptible, unselected, and dimethoate-selected strains of Culex quinquefasciatus Say were studied in the laboratory to recognize resistance development potential and associated fitness cost. The dimethoate-selected strain showed 66.48-fold resistance to dimethoate compared with the susceptible strain after three continuous selections of generations. Realized heritability estimates of dimethoate resistance in Cx. quinquefasciatus yielded a value of 0.19. In dimethoate-selected strain, the biological traits including larval weight, survival from first instar to pupae, fecundity, number of next-generation larvae, relative fitness, net reproductive rate, intrinsic rate of natural increase, and biotic potential were significantly reduced as compared with the unselected strain. However, adult longevity, mean relative growth rate, weight of egg raft, female ratio, pupal duration, and emergence rate of the dimethoate-selected strain did not differ significantly compared with that of the unselected strain. This study provides useful information to devise retrospective management strategy for dimethoate resistance in Cx. quinquefasciatus.

• MeSH
• Culex účinky léků   genetika   růst a vývoj   MeSH
• dědičnost * MeSH
• dimethoát farmakologie   MeSH
• genetická zdatnost * MeSH
• insekticidy farmakologie   MeSH
• kukla účinky léků   genetika   růst a vývoj   MeSH
• larva účinky léků   genetika   růst a vývoj   MeSH
• rezistence k insekticidům * MeSH
• selekce (genetika) * MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

In genetic programming (GP), computer programs are often coevolved with training data subsets that are known as fitness predictors. In order to maximize performance of GP, it is important to find the most suitable parameters of coevolution, particularly the fitness predictor size. This is a very time-consuming process as the predictor size depends on a given application, and many experiments have to be performed to find its suitable size. A new method is proposed which enables us to automatically adapt the predictor and its size for a given problem and thus to reduce not only the time of evolution, but also the time needed to tune the evolutionary algorithm. The method was implemented in the context of Cartesian genetic programming and evaluated using five symbolic regression problems and three image filter design problems. In comparison with three different CGP implementations, the time required by CGP search was reduced while the quality of results remained unaffected.

• MeSH
• algoritmy * MeSH
• biologická evoluce * MeSH
• genetická zdatnost MeSH
• lidé MeSH
• počítačová simulace MeSH
• počítačové zpracování obrazu metody   MeSH
• poměr signál - šum MeSH
• regresní analýza MeSH
• software * MeSH
• vylepšení obrazu metody   MeSH
• výpočetní biologie metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Autophagy is a major catabolic process whereby autophagosomes deliver cytoplasmic content to the lytic compartment for recycling. Autophagosome formation requires two ubiquitin-like systems conjugating Atg12 with Atg5, and Atg8 with lipid phosphatidylethanolamine (PE), respectively. Genetic suppression of these systems causes autophagy-deficient phenotypes with reduced fitness and longevity. We show that Atg5 and the E1-like enzyme, Atg7, are rate-limiting components of Atg8-PE conjugation in Arabidopsis. Overexpression of ATG5 or ATG7 stimulates Atg8 lipidation, autophagosome formation, and autophagic flux. It also induces transcriptional changes opposite to those observed in atg5 and atg7 mutants, favoring stress resistance and growth. As a result, ATG5- or ATG7-overexpressing plants exhibit increased resistance to necrotrophic pathogens and oxidative stress, delayed aging and enhanced growth, seed set, and seed oil content. This work provides an experimental paradigm and mechanistic insight into genetic stimulation of autophagy in planta and shows its efficiency for improving plant productivity.

• MeSH
• Arabidopsis genetika   fyziologie   MeSH
• Atg5 genetika   metabolismus   MeSH
• autofagie genetika   MeSH
• genetická zdatnost * MeSH
• proteiny huseníčku genetika   metabolismus   MeSH
• rodina proteinů Atg8 genetika   metabolismus   MeSH
• signální transdukce genetika   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The interaction of house dust mites (HDM) and microorganisms is the key factor in the survival of these mites in human-made environments. Spent growth medium (SPGM) provides the rest of the diet, along with dead mite bodies and microorganisms. SPGM represents a source of microorganisms for the recolonization of mite food and the mite digestive tract. An experiment was performed to observe how adding SPGM to the HDM diet affects HDM population growth, the microbiome composition and the microbial respiration in microcosms. We analyzed American house dust mite (Dermatophagoides farinae) and European house dust mite (Dermatophagoides pteronyssinus) originating from control diets and diets treated with an extract of SPGM from 1- and 3-month-old mite cultures. The microbiome was described using 16S and 18S barcode sequencing. The composition of the bacterial and fungal microbiomes differed between the HDM species, but the SPGM treatment influenced only the bacterial profile of D. farinae. In the D. farinae microbiome of specimens on SPGM-treated diets compared to those of the control situation, the Lactobacillus profile decreased, while the Cardinium, Staphylococcus, Acinetobacter, and Sphingomonas profiles increased. The addition of SPGM extract decreased the microbial respiration in the microcosms with and without mites in almost all cases. Adding SPGM did not influence the population growth of D. farinae, but it had a variable effect on D. pteronyssinus. The results indicated that the HDM are marginally influenced by the microorganisms in their feces.

• MeSH
• Dermatophagoides pteronyssinus mikrobiologie   MeSH
• genetická zdatnost MeSH
• kultivační média MeSH
• mikrobiota * MeSH
• populační růst MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH

BACKGROUND: Progression rates from initial HIV-1 infection to advanced AIDS vary significantly among infected individuals. A distinct subgroup of HIV-1-infected individuals-termed viremic non-progressors (VNP) or controllers-do not seem to progress to AIDS, maintaining high CD4+T cell counts despite high levels of viremia for many years. Several studies have evaluated multiple host factors, including immune activation, trying to elucidate the atypical HIV-1 disease progression in these patients; however, limited work has been done to characterize viral factors in viremic controllers. METHODS: We analyzed HIV-1 isolates from three VNP individuals and compared the replicative fitness, near full-length HIV-1 genomes and intra-patient HIV-1 genetic diversity with viruses from three typical (TP) and one rapid (RP) progressor individuals. RESULTS: Viremic non-progressors and typical patients were infected for >10 years (range 10-17 years), with a mean CD4+T-cell count of 472 cells/mm3(442-529) and 400 cells/mm3(126-789), respectively. VNP individuals had a less marked decline in CD4+cells (mean -0.56, range -0.4 to -0.7 CD4+/month) than TP patients (mean -10.3, -8.2 to -13.1 CD4+/month). Interestingly, VNP individuals carried viruses with impaired replicative fitness, compared to HIV-1 isolates from the TP and RP patients (p < 0.05, 95% CI). Although analyses of the near full-length HIV-1 genomes showed no clear patterns of single-nucleotide polymorphisms (SNP) that could explain the decrease in replicative fitness, both the number of SNPs and HIV-1 population diversity correlated inversely with the replication capacity of the viruses (r = -0.956 andr = -0.878,p < 0.01, respectively). CONCLUSION: It is likely that complex multifactorial parameters govern HIV-1 disease progression in each individual, starting with the infecting virus (phenotype, load, and quasispecies diversity) and the intrinsic ability of the host to respond to the infection. Here we analyzed a subset of viremic controller patients and demonstrated that similar to the phenomenon observed in patients with a discordant response to antiretroviral therapy (i.e., high CD4+cell counts with detectable plasma HIV-1 RNA load), reduced viral replicative fitness seems to be linked to slow disease progression in these antiretroviral-naïve individuals.

• MeSH
• dlouhodobě přežívající nosiči HIV * MeSH
• dospělí MeSH
• genetická variace MeSH
• genetická zdatnost * MeSH
• genom virový MeSH
• HIV infekce virologie   MeSH
• HIV-1 klasifikace   genetika   izolace a purifikace   fyziologie   MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• replikace viru * MeSH
• sekvenční analýza DNA MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: Life expectancy is determined by a combination of genetic predisposition (~25%) and environmental influences (~75%). Nevertheless a stronger genetic influence is anticipated in long-living individuals. Apolipoprotein E (APOE) gene belongs among the most studied candidate genes of longevity. We evaluated the relation of APOE polymorphism and fitness status in the elderly. MATERIAL AND METHODS: We examined a total number of 128 subjects, over 80 years of age. Using a battery of functional tests their fitness status was assessed and the subjects were stratified into 5 functional categories according to Spirduso´s classification. Biochemistry analysis was performed by enzymatic method using automated analyzers. APOE gene polymorphism was analysed performed using PCR-RFLP. RESULTS: APOE4 allele carriers had significantly worse fitness status compared to non-carriers (p=0.025). Multiple logistic regression analysis showed the APOE4 carriers had higher risk (p=0.05) of functional unfitness compared to APOE2/E3 individuals. CONCLUSIONS: APOE gene polymorphism seems be an important genetic contributor to frailty development in the elderly. While APOE2 carriers tend to remain functionally fit till higher age, the functional status of APOE4 carriers deteriorates more rapidly.

• MeSH
• apolipoprotein E2 genetika   MeSH
• apolipoprotein E3 genetika   MeSH
• apolipoprotein E4 genetika   MeSH
• apolipoproteiny E genetika   MeSH
• dlouhověkost genetika   MeSH
• genetická zdatnost genetika   MeSH
• heterozygot MeSH
• hodnocení rizik MeSH
• kvantitativní polymerázová řetězová reakce MeSH
• lidé MeSH
• logistické modely MeSH
• naděje dožití MeSH
• nutriční stav MeSH
• polymorfismus genetický genetika   MeSH
• senioři nad 80 let MeSH
• senioři fyziologie   MeSH
• tělesná výkonnost MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři fyziologie   MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH