OBJECTIVES: The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of cancer. MATERIALS AND METHODS: We enrolled 60 young subjects (aged 13 to 17) from the Czech Republic with various forms of tooth agenesis. Dental phenotypes were assessed using Planmeca ProMax 3D (Planmeca Oy, Finland) with Planmeca Romexis software (version 2.9.2) together with oral examinations. After screening PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes on the Illumina MiSeq platform (Illumina, USA), we further analyzed the evolutionarily highly conserved WNT10A gene by capillary sequencing in the seven families. RESULTS: All the detected variants were heterozygous or compound heterozygous with various levels of phenotypic expression. The most severe phenotype (oligodontia) was found in a proband who was compound heterozygous for the previously identified WNT10A variant p.Phe228Ile and a newly discovered c.748G > A variant (p.Gly250Arg) of WNT10A. The newly identified variant causes substitution of hydrophobic glycine for hydrophilic arginine. CONCLUSIONS: We suggest that the amino acid changes in otherwise highly conserved sequences significantly affect the dental phenotype. No relationship between the presence of WNT10A variants and a risk of cancer has been found. CLINICAL RELEVANCE: Screening of PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes in hope to elucidate the pattern of inheritance in families.

• MeSH
• anodoncie * genetika   MeSH
• fenotyp MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• nádory * MeSH
• proteiny Wnt genetika   MeSH
• zpráva o sobě MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Neither the genetic basis nor the inheritance of apomixis is fully understood in plants. The present study is focused on the inheritance of parthenogenesis, one of the basic elements of apomixis, in Pilosella (Asteraceae). A complex pattern of inheritance was recorded in the segregating F(1) progeny recovered from reciprocal crosses between the facultatively apomictic hexaploid P. rubra and the sexual tetraploid P. officinarum. Although both female and male reduced gametes of P. rubra transmitted parthenogenesis at the same rate in the reciprocal crosses, the resulting segregating F(1) progeny inherited parthenogenesis at different rates. The actual transmission rates of parthenogenesis were significantly correlated with the mode of origin of the respective F(1) progeny class. The inheritance of parthenogenesis was significantly reduced in F(1) n + n hybrid progeny from the cross where parthenogenesis was transmitted by female gametes. In F(1) n + 0 polyhaploid progeny from the same cross, however, the transmission rate of parthenogenesis was high; all fertile polyhaploids were parthenogenetic. It appeared that reduced female gametes transmitting parthenogenesis preferentially developed parthenogenetically and only rarely were fertilized in P. rubra. The fact that the determinant for parthenogenesis acts gametophytically in Pilosella and the precocious embryogenesis in parthenogenesis-transmitting megagametophytes was suggested as the most probable explanations for this observation. Furthermore, we observed the different expression of complete apomixis in the non-segregating F(1) 2n + n hybrids as compared to their apomictic maternal parent P. rubra. We suggest that this difference is a result of unspecified interactions between the parental genomes.

• MeSH
• apomixie genetika   fyziologie   MeSH
• Asteraceae genetika   fyziologie   MeSH
• chromozomy rostlin genetika   MeSH
• genom rostlinný genetika   MeSH
• hybridizace genetická MeSH
• partenogeneze genetika   fyziologie   MeSH
• polyploidie MeSH
• průtoková cytometrie MeSH
• rozmnožování MeSH
• typy dědičnosti MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Male infertility is a worldwide problem associated with genetic background, environmental factors, and diseases. One of the suspected contributing factors to male infertility is diabetes mellitus. We investigated the molecular and morphological changes in sperms and testicular tissue of diabetic males. The study was performed in streptozotocin-induced type 1 diabetes mouse model. Diabetes decreased sperm concentration and viability and increased sperm apoptosis. Changes in protamine 1/protamine 2 ratio indicated reduced sperm quality. The testicular tissue of diabetic males showed significant tissue damage, disruption of meiotic progression, and changes in the expression of genes encoding proteins important for spermiogenesis. Paternal diabetes altered sperm quality and expression pattern in the testes in offspring of two subsequent generations. Our study revealed that paternal diabetes increased susceptibility to infertility in offspring through gametic alternations. Our data also provide a mechanistic basis for transgenerational inheritance of diabetes-associated pathologies since protamines may be involved in epigenetic regulations.

• MeSH
• biologické markery MeSH
• diabetes mellitus 1. typu komplikace   metabolismus   MeSH
• fenotyp MeSH
• genetická predispozice k nemoci * MeSH
• meióza MeSH
• mužská infertilita etiologie   MeSH
• myši MeSH
• protaminy metabolismus   MeSH
• spermatogeneze MeSH
• spermie metabolismus   MeSH
• testis metabolismus   MeSH
• typy dědičnosti * MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• biokatalýza MeSH
• biologická evoluce MeSH
• dědičnost MeSH
• typy dědičnosti MeSH
• Publikační typ
• monografie MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• biologie
• genetika, lékařská genetika
• biochemie

Úvod: V etiologii vývojové dysplazie kyčle hraje důležitou úlohu dědičnost, jejíž podstata je zatím nejasná. Většinou se uznává působení dvou na sobě nezávislých genetických systémů. Účelem této práce je pokusit se na základě vlastního materiálu určit způsob dědičnosti, přičemž diagnóza by byla založena na různých stupních instability kyčlí u novorozenců. V krátkosti je podán vývoj názorů na dědičnost vývojové dysplazie kyčle. Materiál a metody: Celkem 4282 dětí bylo vyšetřeno při narození klinicky a ve 3 měsících i rentgenologicky. U novorozenců se zjišťovala instabilita kyčlí, rozdělená na 3 skupiny: kyčle dislokované – reponovatelné, kyčle dislokovatelné a kyčle volné s malou instabilitou bez dislokability. Děti s normálními kyčlemi měly při narození kyčle stabilní a ve 3 měsících normální rtg nález. Získané údaje o postižených příbuzných probandů byly aplikovány na jednotlivé stupně instability. Výsledky a diskuse: V rodinách novorozenců s instabilními kyčlemi bylo nalezeno celkem 353 (25,63 %) postižených příbuzných, v rodinách dětí s normálními kyčlemi 459 (15,80 %). U obou skupin se počet postižených příbuzných snižoval se stupněm příbuznosti. Sestupný trend vykazovala také heritabilita, která dosahovala 95 % u dislokovaných, 50 % u dislokovatelných a 39 % u volných kyčlí. Krátce jsou srovnány některé výsledky s údaji v literatuře. Závěr: Z výsledků této studie je možno usuzovat, že dědičnost vývojové dysplazie kyčle, jejíž diagnóza byla založena na instabilitě kyčlí u novorozenců, je polygenního charakteru, což dokládá několik typických znaků: široká škála stupňů instability a snižování počtů postižených příbuzných probandů se stupněm příbuznosti. Zdá se, že je to v rozporu s názorem, podle kterého se u této skupiny jedná o dědičnost autosomálně dominantní.

Introduction: Inheritance plays an important role in the aetiology of developmental dysplasia of the hip, but its nature is still uncertain. The hypothesis positing that two different genetic systems are responsible, one for the neonatal form, the second for the late-diagnosis cases seems to be the most widely accepted one. The purpose of this study is to try to determine the type of inheritance in cases when the diagnosis is based on various degrees of hip instability in newborns. The history of expert opinions concerning the inheritance of hip dysplasia is briefly outlined. Material and methods: 4,282 children were examined clinically at birth, with further x-ray examination at 3 months. In the newborns the hips were tested for instability, distinguishing three degrees: dislocated, dislocatable and non-dislocatable unstable hips. The children with normal hips had stable hips at birth and normal x-ray results at 3 months. The data concerning the number of relatives of probands with dysplasia were applied to different degrees of instability, irrespective of their further development. Results and discussion: 353 (25,63%) cases of dysplasia were found among the relatives of probands with hip instability and 459 (15,80%) in the families of children with normal hips. In both groups the number of affected relatives diminished with the degree of relatedness. The descending trend shows also the heritability which amounted to 95% in dislocated, 50% in dislocatable and 39% in unstable hips respectively. Some of the results were compared with the data in the literature. Conclusion: The results of this study clearly show some of the patterns of inheritance typical for polygenic traits: large variety of the degrees of hip instability and the number of affected relatives diminishing with the degree of relatedness. This seems to disagree with the common opinion that the inheritance in the neonatal group may be of the autosomal dominant kind.

• Klíčová slova
• vývojová dysplazie kyčle, neonatální, polygenní,
• MeSH
• dědičnost MeSH
• dislokace kloubu diagnóza   genetika   klasifikace   vrozené   MeSH
• dítě MeSH
• genetická predispozice k nemoci MeSH
• kojenec MeSH
• kyčelní kloub abnormality   patologie   růst a vývoj   MeSH
• lidé MeSH
• novorozenec růst a vývoj   MeSH
• vrozené, dědičné a novorozenecké nemoci a abnormality prevence a kontrola   MeSH
• vývojová kyčelní dysplazie diagnóza   epidemiologie   etiologie   patologie   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec růst a vývoj   MeSH
• ženské pohlaví MeSH

Commercial Cydia pomonella granulovirus (CpGV) products have been successfully applied to control codling moth (CM) in organic and integrated fruit production for more than 30 years. Since 2005, resistance against the widely used isolate CpGV-M has been reported from different countries in Europe. The inheritance of this so-called type I resistance is dominant and linked to the Z chromosome. Recently, a second form (type II) of CpGV resistance in CM was reported from a field population (NRW-WE) in Germany. Type II resistance confers reduced susceptibility not only to CpGV-M but to most known CpGV isolates and it does not follow the previously described Z-linked inheritance of type I resistance. To further analyze type II resistance, two CM strains, termed CpR5M and CpR5S, were generated from parental NRW-WE by repeated mass crosses and selection using the two isolates CpGV-M and CpGV-S, respectively. Both CpR5M and CpR5S were considered to be genetically homogeneous for the presence of the resistance allele(s). By crossing and backcrossing experiments with a susceptible CM strain, followed by resistance testing of the offspring, an autosomal dominant inheritance of resistance was elucidated. In addition, cross-resistance to CpGV-M and CpGV-S was detected in both strains, CpR5M and CpR5S. To test the hypothesis that the autosomal inheritance of type II resistance was caused by a large interchromosomal rearrangement involving the Z chromosome, making type I resistance appear to be autosomal in these strains; fluorescence in situ hybridization with bacterial artificial chromosome probes (BAC-FISH) was used to physically map the Z chromosomes of different CM strains. Conserved synteny of the Z-linked genes in CpR5M and other CM strains rejects this hypothesis and argues for a novel genetic and functional mode of resistance in CM populations with type II resistance.

• MeSH
• Betabaculovirus genetika   fyziologie   MeSH
• chromozomy hmyzu genetika   MeSH
• genom virový genetika   MeSH
• hybridizace genetická MeSH
• můry genetika   fyziologie   virologie   MeSH
• typy dědičnosti * MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• Arthrodermataceae růst a vývoj   MeSH
• typy dědičnosti MeSH
• virulence MeSH

• MeSH
• arytmogenní dysplazie pravé komory genetika   komplikace   MeSH
• Brugadův syndrom genetika   komplikace   MeSH
• DiGeorgeův syndrom genetika   komplikace   MeSH
• Fabryho nemoc genetika   komplikace   MeSH
• kardiomyopatie genetika   klasifikace   komplikace   MeSH
• lidé MeSH
• Marfanův syndrom genetika   komplikace   MeSH
• Noonanové syndrom genetika   komplikace   MeSH
• syndrom dlouhého QT genetika   komplikace   MeSH
• syndrom Noonanové s mnohočetnými pihami genetika   komplikace   MeSH
• Check Tag
• lidé MeSH

Countering the trend in specialization, we advocate the transdisciplinary monitoring of blood pressure and heart rate for signatures of environmental cyclic and other variabilities in space as well as terrestrial weather on the one hand, and for surveillance of personal and societal health on the other hand. New rules (if confirmed novel laws) emerge as we recognize our inheritance from the cosmos of cycles that constitute and characterize life and align them with inheritance from parents. In so doing, we happen to follow the endeavors of Gregor Mendel, who recognized the segregation and independent assortment of what became known as genes. Circadians, rhythms with periods, ?, between 20 and 28 hours, and cycles with frequencies that are higher (ultradian) or lower (infradian) than circadian, are genetically anchored. An accumulating long list of very important but aeolian (nonstationary) infradian cycles, characterizing the incidence patterns of sudden cardiac death, suicide and terrorism, with drastically different ?s, constitutes the nonphotic (corpuscular emission from the sun, heliogeomagnetics, ultraviolet flux, gravitation) Cornélissen-series .

• MeSH
• ambulantní monitorování krevního tlaku MeSH
• biologické hodiny fyziologie   MeSH
• chronobiologické jevy fyziologie   MeSH
• cirkadiánní rytmus MeSH
• elektromagnetické jevy MeSH
• financování organizované MeSH
• kardiovaskulární fyziologické jevy MeSH
• krevní tlak fyziologie   MeSH
• lidé MeSH
• periodicita MeSH
• sluneční aktivita MeSH
• srdeční frekvence fyziologie   MeSH
• Země (planeta) MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

Pregnancy-related complications (PRC) re-present a serious public health and healthcare challenge. In European countries, infertility among couples varies from 5 to 24 %. The cause of PRC may include autoimmune and metabolic factors, correctness of the karyotype and variants of selected genes. The impact magnitude of genetic variants in one of PRC, pregnancy loss (PL), is still unexplored. Therefore, in this study, raw data on 12 single-nucleotide polymorphisms (SNPs) that were published separately in 2017-2019 were re-examined. We analysed the co-inheritance of 12 SNPs: rs6025 FV, rs429358 and rs7412 ApoE, rs1799752 ACE, rs1799889 PAI-1, rs1799963 PT, rs1801133 MTHFR, rs9468 and rs1800547 INV 17q21.31, rs731236 and rs1544410 VDR, and rs10421768 HAMP. Each time, the same study group of 154 women with PL, mean age 33 (± 5.4) years, and 154 mothers without PL, mean age 31.4 (± 6.7) years, with at least one live-born child, a control group, was investigated. In Bosnian women, no relationship of the co-inheritance pattern of any of the studied variants with PL was confirmed: P was in the range 0.248-1.0. In conclusion, the role of co-inheritance of heterozygotes and homozygotes or homozygotes of selected genes in PL has not been fully confirmed.

• MeSH
• dítě MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• homozygot MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé MeSH
• rizikové faktory MeSH
• samovolný potrat * genetika   MeSH
• studie případů a kontrol MeSH
• těhotenství MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH