INTRODUCTION: Given the physiological role of placental growth hormone (PGH) during intrauterine development and growth, genetic variation in the coding Growth hormone 2 (GH2) gene may modulate developmental programming of adult stature. Two major GH2 variants were described worldwide, determined by single polymorphism (rs2006123; c.171 + 50C > A). We sought to study whether GH2 variants may contribute to adult anthropometric measurements. METHODS: Genotyping of GH2 SNP rs2006123 by RFLP, testing its genetic association with adult height and Body Mass Index (BMI) by linear regression analysis, and combining the results of three individual study samples in meta-analysis. STUDY SAMPLES: HYPEST (Estonia), n = 1464 (506 men/958 women), CADCZ (Czech), n = 871 (518/353); UFA (Bashkortostan), n = 954 (655/299); meta-analysis, n = 3289 (1679/1610). RESULTS: Meta-analysis across HYPEST, CADCZ and UFA samples (n = 3289) resulted in significant association of GH2 rs2006123 with height (recessive model: AA-homozygote effect: beta (SE) = 1.26 (0.46), P = 5.90 × 10⁻³; additive model: A-allele effect: beta (SE) = 0.45 (0.18), P = 1.40 × 10⁻²). Among men (n = 1679), the association of the A-allele with taller stature remained significant after multiple-testing correction (additive effect: beta = 0.86 (0.28), P = 1.83 × 10⁻³). No association was detected with BMI. Notably, rs2006123 was in strong LD (r² ≥ 0.87) with SNPs significantly associated with height (rs2665838, rs7209435, rs11658329) and mapped near GH2 in three independent meta-analyses of GWA studies. CONCLUSIONS: This is the first study demonstrating a link between a placental gene variant and programming of growth potential in adulthood. The detected association between PGH encoding GH2 and adult height promotes further research on the role of placental genes in prenatal programming of human metabolism.

• Klíčová slova
• Association study, Developmental programming, GH2 gene, Human height and BMI, Placental growth hormone, Polymorphism,
• MeSH
• dospělí MeSH
• frekvence genu MeSH
• genetické asociační studie MeSH
• index tělesné hmotnosti MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé středního věku MeSH
• lidé MeSH
• multigenová rodina MeSH
• placentární hormony genetika   metabolismus   MeSH
• růstový hormon genetika   metabolismus   MeSH
• senioři MeSH
• těhotenství MeSH
• tělesná výška MeSH
• vazebná nerovnováha MeSH
• vývoj kostí * MeSH
• vývoj plodu * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Baškortostán MeSH
• Česká republika MeSH
• Estonsko MeSH
• Názvy látek
• GH2 protein, human MeSH Prohlížeč
• placentární hormony MeSH
• růstový hormon MeSH

Maternal obesity predisposes offspring to metabolic dysfunction and Non-Alcoholic Fatty Liver Disease (NAFLD). Melanocortin-4 receptor (Mc4r)-deficient mouse models exhibit obesity during adulthood. Here, we aim to determine the influence of the Mc4r gene on the liver of mice subjected to perinatal diet-induced obesity. Female mice heterozygous for Mc4r fed an obesogenic or a control diet for 5 weeks were mated with heterozygous males, with the same diet continued throughout pregnancy and lactation, generating four offspring groups: control wild type (C_wt), control knockout (C_KO), obese wild type (Ob_wt), and obese knockout (Ob_KO). At 21 days, offspring were genotyped, weaned onto a control diet, and sacrificed at 6 months old. Offspring phenotypic characteristics, plasma biochemical profile, liver histology, and hepatic gene expression were analyzed. Mc4r_ko offspring showed higher body, liver and adipose tissue weights respect to the wild type animals. Histological examination showed mild hepatic steatosis in offspring group C_KO. The expression of hepatic genes involved in regulating inflammation, fibrosis, and immune cell infiltration were upregulated by the absence of the Mc4r gene. These results demonstrate that maternal obesogenic feeding during the perinatal period programs offspring obesity development with involvement of the Mc4r system.

• Klíčová slova
• Non-Alcoholic Fatty Liver Disease, developmental programming, intra-abdominal fat, maternal nutrition, obesity,
• MeSH
• alanintransaminasa krev   MeSH
• aspartátaminotransferasy krev   MeSH
• fyziologie výživy v mateřství * MeSH
• játra metabolismus   MeSH
• krevní glukóza metabolismus   MeSH
• modely nemocí na zvířatech MeSH
• myši knockoutované MeSH
• myši obézní MeSH
• myši MeSH
• obezita genetika   MeSH
• perinatální péče MeSH
• receptor melanokortinový typ 4 nedostatek   genetika   MeSH
• regulace genové exprese MeSH
• těhotenství MeSH
• triglyceridy krev   MeSH
• zpožděný efekt prenatální expozice genetika   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• alanintransaminasa MeSH
• aspartátaminotransferasy MeSH
• krevní glukóza MeSH
• MC4R protein, mouse MeSH Prohlížeč
• receptor melanokortinový typ 4 MeSH
• triglyceridy MeSH

The developmental competence of oocytes is acquired progressively during folliculogenesis and is linked to follicular size. It has been documented that oocytes originating from larger follicles exhibit a greater ability to develop to the blastocyst stage. The differences in cytoplasmic factors such as mRNA transcripts could explain the differences in oocyte developmental potential. We used bovine oligonucleotide microarrays to characterize differences between the gene expression profiles of germinal vesicle stage (GV) oocytes with greater developmental competence from medium follicles (MF) and those with less developmental competence from small follicles (SF). After normalizing the microarray data, our analysis found differences in the level of 60 transcripts (≥1.4 fold), corresponding to 49 upregulated and 11 downregulated transcripts in MF oocytes compared to SF oocytes. The gene expression data were classified according to gene ontology, the majority of the genes were associated with the regulation of transcription, translation, the cell cycle, and mitochondrial activity. A subset of 16 selected genes was validated for GV oocytes by quantitative real-time RT-PCR; significant differences (P˂0.01) were found in the level of TAF1A, MTRF1L, ATP5C1, UBL5 and MAP3K13 between the MF and SF oocytes. After maturation the transcript level remained stable for ATP5F1, BRD7, and UBL5 in both oocyte categories. The transcript level of another 13 genes substantially dropped in the MF and/or SF oocytes. It can be concluded that the developmental competence of bovine oocytes and embryos may be a quantitative trait dependent on small changes in the transcription profiles of many genes.

• Klíčová slova
• Bovine, Developmental competence, Embryo, Oocyte, Transcription,
• MeSH
• embryonální vývoj genetika   MeSH
• fertilizace in vitro MeSH
• oocyty metabolismus   fyziologie   MeSH
• oogeneze genetika   MeSH
• ovariální folikul metabolismus   MeSH
• sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
• skot genetika   fyziologie   MeSH
• stanovení celkové genové exprese MeSH
• vývojová regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• skot genetika   fyziologie   MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Pronuclear transfer has been successfully used in human-assisted reproduction to suppress the adverse effects of a defective oocyte cytoplasm or to bypass an idiopathic developmental arrest. However, the effects of the initial parental genome remodelling in a defective cytoplasm on the subsequent development after pronucleus transfer have not been systematically studied. By performing pronuclear transfer in pre-replication and post-replication mouse embryos, we show that the timing of the procedure plays a critical role. Although apparently morphologically normal blastocysts were obtained in both pre- and post-replication pronuclear transfer groups, post-replication pronuclear transfer led to a decrease in developmental competence and profound changes in embryonic gene expression. By inhibiting the replication in the abnormal cytoplasm before pronuclear transfer into a healthy cytoplasm, the developmental potential of embryos could be largely restored. This shows that the conditions under which the first embryonic replication occurs strongly influence developmental potential. Although pronuclear transfer is the method of choice for mitigating the impact of a faulty oocyte cytoplasm on early development, our results show that the timing of this intervention should be restricted to the pre-replication phase.

• Klíčová slova
• DNA damage, developmental rate, embryo, pronuclear transfer, replication,
• MeSH
• blastocysta * metabolismus   cytologie   MeSH
• buněčné jádro metabolismus   MeSH
• časové faktory MeSH
• cytoplazma metabolismus   MeSH
• embryo savčí MeSH
• embryonální vývoj * MeSH
• myši MeSH
• oocyty metabolismus   cytologie   MeSH
• techniky jaderného přenosu * MeSH
• vývojová regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Developmental coordination disorder (DCD) is described as a motor skill disorder characterized by a marked impairment in the development of motor coordination abilities that significantly interferes with performance of daily activities and/or academic achievement. Since some electrophysiological studies suggest differences between children with/without motor development problems, we prepared an experimental protocol and performed electrophysiological experiments with the aim of making a step toward a possible diagnosis of this disorder using the event-related potentials (ERP) technique. The second aim is to properly annotate the obtained raw data with relevant metadata and promote their long-term sustainability. RESULTS: The data from 32 school children (16 with possible DCD and 16 in the control group) were collected. Each dataset contains raw electroencephalography (EEG) data in the BrainVision format and provides sufficient metadata (such as age, gender, results of the motor test, and hearing thresholds) to allow other researchers to perform analysis. For each experiment, the percentage of ERP trials damaged by blinking artifacts was estimated. Furthermore, ERP trials were averaged across different participants and conditions, and the resulting plots are included in the manuscript. This should help researchers to estimate the usability of individual datasets for analysis. CONCLUSIONS: The aim of the whole project is to find out if it is possible to make any conclusions about DCD from EEG data obtained. For the purpose of further analysis, the data were collected and annotated respecting the current outcomes of the International Neuroinformatics Coordinating Facility Program on Standards for Data Sharing, the Task Force on Electrophysiology, and the group developing the Ontology for Experimental Neurophysiology. The data with metadata are stored in the EEG/ERP Portal.

• Klíčová slova
• developmental coordination disorder, electroencephalography, event-related potentials, reaction time, visual and audio stimulation,
• MeSH
• akustická stimulace MeSH
• datové kurátorství MeSH
• dítě MeSH
• elektroencefalografie MeSH
• evokované potenciály MeSH
• komorbidita MeSH
• kvantitativní znak dědičný MeSH
• lidé MeSH
• počítačová simulace MeSH
• poruchy motorických dovedností diagnóza   MeSH
• reakční čas MeSH
• reprodukovatelnost výsledků MeSH
• software MeSH
• světelná stimulace MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Mammalian oocyte development depends on the temporally controlled translation of maternal transcripts, particularly in the coordination of meiotic and early embryonic development when transcription has ceased. The translation of mRNA is regulated by various RNA-binding proteins. We show that the absence of cytoplasmic polyadenylation element-binding protein 3 (CPEB3) negatively affects female reproductive fitness. CPEB3-depleted oocytes undergo meiosis normally but experience early embryonic arrest due to a disrupted transcriptome, leading to aberrant protein expression and the subsequent failure of embryonic transcription initiation. We found that CPEB3 stabilizes a subset of mRNAs with a significantly longer 3'UTR that is enriched in its distal region with cytoplasmic polyadenylation elements. Overall, our results suggest that CPEB3 is an important maternal factor that regulates the stability and translation of a subclass of mRNAs that are essential for the initiation of embryonic transcription and thus for embryonic development.

• Klíčová slova
• embryo, mRNA, oocyte, translation,
• MeSH
• 3' nepřekládaná oblast genetika   MeSH
• embryonální vývoj genetika   MeSH
• meióza genetika   MeSH
• messenger RNA genetika   metabolismus   MeSH
• myši MeSH
• oocyty * metabolismus   MeSH
• polyadenylace MeSH
• proteiny vázající RNA * metabolismus   genetika   MeSH
• stabilita RNA genetika   MeSH
• vývojová regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• 3' nepřekládaná oblast MeSH
• Cpeb3 protein, mouse MeSH Prohlížeč
• messenger RNA MeSH
• proteiny vázající RNA * MeSH

Pre-implantation embryos derived by in vitro fertilization differ in their developmental potential from embryos obtained in vivo. In order to characterize changes in gene expression profiles caused by in vitro culture environment, we employed microarray constructed from bovine oocyte and preimplantation embryo-specific cDNAs (BlueChip, Université Laval, Québec). The analysis revealed changes in the level of 134 transcripts between in vitro derived (cultured in COOK BVC/BVB media) and in vivo derived 4-cell stage embryos and 97 transcripts were differentially expressed between 8-cell stage in vitro and in vivo embryos. The expression profiles of 7 selected transcripts (BUB3, CUL1, FBL, NOLC1, PCAF, GABPA and CNOT4) were studied in detail. We have identified a switch from Cullin 1-like transcript variant 1 to Cullin 1 transcript variant 3 (UniGene IDs BT.36789 and BT.6490, respectively) expressions around the time of bovine major gene activation (8-cell stage). New fibrillarin protein was detected by immunofluorescence already in early 8-cell stage and this detection correlated with increased level of fibrillarin mRNA. The qRT-PCR analysis revealed significant differences in the level of BUB3, NOLC1, PCAF, GABPA and CNOT4 gene transcripts between in vivo derived (IVD) and in vitro produced (IVP) embryos in late 8-cell stage. The combination of these genes represents a suitable tool for addressing questions concerning normal IVD embryo development and can be potentially useful as a marker of embryo quality in future attempts to optimize in vitro culture conditions.

• MeSH
• blastocysta metabolismus   MeSH
• embryonální vývoj genetika   MeSH
• kulinové proteiny genetika   metabolismus   MeSH
• kultivace embrya veterinární   MeSH
• kultivační média MeSH
• molekulární sekvence - údaje MeSH
• sekvence nukleotidů MeSH
• sekvenční seřazení MeSH
• skot MeSH
• stanovení celkové genové exprese * MeSH
• vývojová regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• skot MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• Cullin 1 MeSH Prohlížeč
• kulinové proteiny MeSH
• kultivační média MeSH

Reintroduction of captive-bred individuals into the wild is an important conservation activity. However, environmental conditions can influence developmental programming, potentially causing metabolic disorders in adults. These effects are investigated here for the first time in an endangered species. Using body weight and feed intake data for Iberian lynx (Lynx pardinus) (n = 22), we compared the growth of captive versus wild born and/or reared individuals. Captive-born individuals gained weight as a function of calorie intake, unlike wild-born individuals. When compared with females reared in the wild, captive-reared females achieved a larger body size, without evidence of obesity. Captivity-associated changes to metabolic programming may compromise survival in the wild if an increased body size incurs a greater energy requirement. Large body size may also confer a competitive advantage over smaller, wild-born individuals, disrupting the social organisation of existing wild populations, and inferring long-term implications for the phenotypic composition of wild populations.

• MeSH
• chování zvířat MeSH
• energetický příjem MeSH
• Lynx růst a vývoj   metabolismus   psychologie   MeSH
• ohrožené druhy MeSH
• sociální chování MeSH
• sociální izolace MeSH
• tělesná hmotnost MeSH
• zachování přírodních zdrojů MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Embryotoxic effects of CdCl2 administered in a single dose of 2.0, 4.0 or 6.0 mg/kg body weight to randombred ICR mice (Velaz) on the 8th, 9th, 10th, 11th, 12th, 13th or 14th day of pregnancy were studied. The embryolethal effect, being highest after treatment with 6.0 mg/kg CdCl2 on the 12th and 13th day of pregnancy (50.0 and 61.3%) was not significantly correlated to the day of treatment. Among survivors, foetuses with haemorrhagic bullae, limb malformations, exencephaly, cleft palate, open eyelids and tail deformities occurred. Mainly the right-sided limbs were malformed. The administration of 2.0 and 4.0 mg/kg CdCl2 on the 10th day of pregnancy induced fore limb polydactylies, whereas with the dose of 6.0 mg also oligodactylies were induced. The foetal body weight was reduced only by a dose of 6.0 mg CdCl2 administered on the 12th day of pregnancy. Reduction of the thymus weight was a constant effect of treatment with the higher doses of cadmium from the 9th to the 14th day of pregnancy.

• MeSH
• abnormality vyvolané léky MeSH
• embryonální a fetální vývoj účinky léků   MeSH
• kadmium toxicita   MeSH
• myši inbrední ICR MeSH
• myši MeSH
• těhotenství MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• kadmium MeSH

The aim of this study was to compare the expression of selected genes in bovine embryos developed from oocytes with different developmental competence. Four oocyte populations were collected, separately either from small (2-5 mm) or medium (6-10 mm) follicles, in the growth/stagnation (G/S) or dominance/regression (D/R) stage of the first follicular wave. They were matured, fertilized and cultured to D7 or D8 blastocysts by a standard protocol. Poly (A)+ mRNA was extracted from pooled blastocysts and the expression of bax-alpha (Bax), connexin 43 (Cx 43) and connexin 31 (Cx 31) was estimated using real-time RT-PCR. The cleavage rates were significantly higher in oocytes collected from both medium and small follicles, (p < or = 0.05 and p < or = 0.01, respectively) in the G/S than in the D/R stage. There were no significant differences in the D7 blastocyst rates between oocytes from both medium and small follicles in the G/S or D/R stage. But the D8 blastocyst rate was significantly higher in oocytes from small follicles in the G/S stage compared with those in the D/R stage. The relative abundance of Bax and Cx 31 made no significant difference in both D7 and D8 blastocysts developed from oocytes collected from medium or small follicles in the G/S or D/R stages. But the relative abundance of the Cx 43 transcript was significantly higher in D8 blastocysts developed from oocytes collected from both medium and small follicles in the G/S stage compared with those in the D/R stage. We conclude that the relative abundance of Cx 43 can be used as a marker of developmental potential for embryos derived from oocytes with different developmental competence because the level of Cx 43 transcript was greater in embryos derived from oocytes with greater developmental competence compared with those derived from oocytes with lesser developmental competence.

• MeSH
• blastocysta fyziologie   MeSH
• embryo savčí metabolismus   MeSH
• embryonální vývoj MeSH
• exprese genu * MeSH
• konexin 43 genetika   MeSH
• konexiny genetika   MeSH
• messenger RNA analýza   izolace a purifikace   MeSH
• oocyty fyziologie   MeSH
• ovariální folikul cytologie   růst a vývoj   MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• protein X asociovaný s bcl-2 genetika   MeSH
• skot embryologie   MeSH
• zvířata MeSH
• Check Tag
• skot embryologie   MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• GJB3 protein, human MeSH Prohlížeč
• konexin 43 MeSH
• konexiny MeSH
• messenger RNA MeSH
• protein X asociovaný s bcl-2 MeSH