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.

• Klíčová slova
• SNPs, co-inheritance, polymorphisms, pregnancy loss, risk variants,
• 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

In insects, rapidly evolving primary sex-determining signals are transduced by a conserved regulatory module controlling sexual differentiation. In the agricultural pest Ceratitis capitata (Mediterranean fruit fly, or Medfly), we identified a Y-linked gene, Maleness-on-the-Y (MoY), encoding a small protein that is necessary and sufficient for male development. Silencing or disruption of MoY in XY embryos causes feminization, whereas overexpression of MoY in XX embryos induces masculinization. Crosses between transformed XY females and XX males give rise to males and females, indicating that a Y chromosome can be transmitted by XY females. MoY is Y-linked and functionally conserved in other species of the Tephritidae family, highlighting its potential to serve as a tool for developing more effective control strategies against these major agricultural insect pests.

• MeSH
• Ceratitis capitata genetika   MeSH
• chromozom Y genetika   MeSH
• embryo nesavčí MeSH
• geny vázané na chromozom Y * MeSH
• hmyzí geny MeSH
• konzervovaná sekvence MeSH
• procesy určující pohlaví * MeSH
• RNA interference 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

McKusick's database MIM has grown since its early beginning in sixties to 1985 when the online version (OMIM) appeared. The last edition of three volumes was printed in 1998. It has become a very valuable tool for all geneticists, and also clinicians of other disciplines started using it as a source of important information. The original limitation to disorders with mendelian inheritance has been step by step broken down, all components of human genome and also genes without known function and their epigenetic changes have been included. It was a pleasure for all of us to congratulate to McKusick's honorary degree obtained this year by the oldest European university in Bologna (with a short biography).

• MeSH
• databáze genetické dějiny   MeSH
• dědičnost MeSH
• dějiny 20. století MeSH
• lékařská genetika dějiny   MeSH
• Check Tag
• dějiny 20. století MeSH
• Publikační typ
• anglický abstrakt MeSH
• biografie MeSH
• časopisecké články MeSH
• historické články MeSH

• O autorovi
• McCusick, Victor Almon

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease's manifestation depends on the genetic determination of ADPKD. The huge variability of different phenotypes (even within a single family) is not only modulated by the two main ADPKD genes (PKD1 and PKD2) but also by modifier genes and the whole genetic background. CASE PRESENTATION: This is a report of an ADPKD family with co-inheritance of PKD1 and PKD2 pathogenic variants. The proband, with an extremely serious manifestation of ADPKD (the man was diagnosed in early childhood, and with end stage renal disease aged 23), underwent genetic analysis of PKD1 and PKD2, which revealed the presence of pathogenic mutations in both of these genes. The missense PKD2 mutation p.Arg420Gly came from the proband's father, with a mild ADPKD phenotype. The same mutation of the PKD2 gene and similar mild disease presentation were found in the proband's aunt (father's sister) and her son. The nonsense mutation p.Gln2196* within the PKD1 gene was probably inherited from the proband's mother, who died at the age of 45. It was only discovered post mortem, that the real cause of her death was kidney failure as a consequence of untreated ADPKD. Unfortunately, neither the DNA of the proband's mother nor the DNA of any other family members from this side of the pedigree were available for further examination. The proband underwent successful cadaveric kidney transplantation at the age of 24, and this replacement therapy lasted for the next 15 years. CONCLUSIONS: Here, we present a first case of bilineal ADPKD inheritance in the Czech Republic. This report highlights the significant role of modifier genes in genetic determination of ADPKD, especially in connection with seriously deteriorated disease phenotypes. In our case, the modifying role is probably mediated by the PKD2 gene.

• Klíčová slova
• ADPKD, Bilineal inheritance, Causative mutation, Modifier gene, PKD1/2 gene,
• MeSH
• dospělí MeSH
• genetická variace genetika   MeSH
• kationtové kanály TRPP genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• missense mutace genetika   MeSH
• polycystické ledviny autozomálně dominantní diagnóza   genetika   MeSH
• rodokmen MeSH
• senioři nad 80 let MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• kationtové kanály TRPP MeSH
• polycystic kidney disease 1 protein MeSH Prohlížeč
• polycystic kidney disease 2 protein MeSH Prohlížeč

RNA interference (RNAi) is a suitable method for sequence-specific post-transcriptional gene silencing for a number of model systems. Here, we describe selection of the target sequence for efficient RNAi knockdown in mouse.

• MeSH
• 3' nepřekládaná oblast MeSH
• databáze genetické MeSH
• dvouvláknová RNA metabolismus   MeSH
• exprimované sekvenční adresy MeSH
• genetické techniky * MeSH
• komplementární DNA metabolismus   MeSH
• malá interferující RNA metabolismus   MeSH
• messenger RNA metabolismus   MeSH
• myši MeSH
• posttranskripční úpravy RNA MeSH
• RNA interference * MeSH
• umlčování genů MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• 3' nepřekládaná oblast MeSH
• dvouvláknová RNA MeSH
• komplementární DNA MeSH
• malá interferující RNA MeSH
• messenger RNA MeSH

Previously, we reported a family in which bipolar disorder (BD) co-segregates with a Mendelian kidney disorder linked to 1q22. The causative renal gene was later identified as MUC1. Genome-wide linkage analysis of BD in the family yielded a peak at 1q22 that encompassed the NTRK1 and MUC1 genes. NTRK1 codes for TrkA (Tropomyosin-related kinase A) which is essential for development of the cholinergic nervous system. Whole genome sequencing of the proband identified a damaging missense mutation, E492K, in NTRK1. Induced pluripotent stem cells were generated from family members, and then differentiated to neural stem cells (NSCs). E492K NSCs had reduced neurite outgrowth. A conditional knock-in mouse line, harboring the point mutation in the brain, showed depression-like behavior in the tail suspension test following challenge by physostigmine, a cholinesterase inhibitor. These results are consistent with the cholinergic hypothesis of depression. They imply that the NTRK1 E492K mutation, impairs cholinergic neurotransmission, and may convey susceptibility to bipolar disorder.

• MeSH
• bipolární porucha * genetika   MeSH
• deprese MeSH
• mutace MeSH
• myši MeSH
• nemoci ledvin * MeSH
• receptor trkA * genetika   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• receptor trkA * MeSH

Understanding the biological principles of disease heredity and resistance to disease is a prerequisite for the incorporation of these factors into multi-trait breeding programmes. Mutations represent an evolutionary aspect of disease. The author reviews patterns of Mendelian inheritance and possible causes of non-Mendelian inheritance, such as multifactorial inheritance, expansion of trinucleotide repeats, mitochondiral inheritance and genomic imprinting, in relation to diseases of domestic animals. Host-pathogen interactions underlie genetic variability in resistance to disease. Infectious pathogens endowed with a high potential for evolutionary change use this potential to evade various host defence mechanisms. This interaction may have a competitive or co-evolutionary character. The host immune system copes with the variability of pathogens by using the potential of genetic diversity of lymphocytes in immunoglobulin, T-cell receptor and major histocompatibility complex genes. Possible mechanisms for maintenance of this diversity are discussed in the context of selection for disease resistance.

• MeSH
• chov MeSH
• genetické nemoci vrozené genetika   MeSH
• infekční nemoci etiologie   genetika   imunologie   MeSH
• lidé MeSH
• mutace MeSH
• přirozená imunita genetika   MeSH
• selekce (genetika) MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

We have studied the inheritance of the epigenetic state of tobacco transgenes whose expression was post-transcriptionally silenced by an invertedly repeated silencer locus. We show that, in hybrids, the coding region of the target neomycin phosphotransferase (nptII) gene was almost exclusively methylated at CG configurations, and dense non-CG methylation occurred in the 3' untranslated region. Homologous sequences in the silencer locus were heavily methylated at both CG and non-CG motifs. After segregation of the silencer locus, the CG methylation but not the non-CG methylation of the target genes was transmitted to the progeny. In the segregants, we observed an overall increase of CG methylation in the target genes, associated with a re-distribution from the 3' end of the coding region towards the middle. This pattern was inherited with some fluctuation for at least two additional generations in the absence of a detectable T-DNA-derived small RNA fraction. Thus CG methylation is not cleared during meiosis and may be inherited over generations without RNA signals being present. These epi-allelic variants re-expressed the reporter gene immediately after segregation of the trigger, showing that relatively dense CG methylation (approximately 60-80%) imprinted on most of the coding region (>500 bp) did not reduce expression compared with the parental non-methylated locus. We propose that the genic CG methylation seen in euchromatic regions of the genome may originate from ancient post-transcriptional gene silencing events as a result of adventitiously produced methylation-directing RNA molecules.

• MeSH
• alely MeSH
• DNA bakterií metabolismus   MeSH
• DNA rostlinná metabolismus   MeSH
• geneticky modifikované rostliny genetika   metabolismus   MeSH
• křížení genetické MeSH
• metylace DNA * MeSH
• regulace genové exprese u rostlin MeSH
• RNA interference * MeSH
• tabák genetika   metabolismus   MeSH
• transgeny * MeSH
• typy dědičnosti * MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA bakterií MeSH
• DNA rostlinná MeSH
• T-DNA MeSH Prohlížeč

The Hieracium and Pilosella (Lactuceae, Asteraceae) genera of closely related hawkweeds contain species with two different modes of gametophytic apomixis (asexual seed formation). Both genera contain polyploid species, and in wild populations, sexual and apomictic species co-exist. Apomixis is known to co-exist with sexuality in apomictic Pilosella individuals, however, apomictic Hieracium have been regarded as obligate apomicts. Here, a developmental analysis of apomixis within 16 Hieracium species revealed meiosis and megaspore tetrad formation in 1 to 7% of ovules, for the first time indicating residual sexuality in this genus. Molecular markers linked to the two independent, dominant loci LOSS OF APOMEIOSIS (LOA) and LOSS OF PARTHENOGENESIS (LOP) controlling apomixis in Pilosella piloselloides subsp. praealta were screened across 20 phenotyped Hieracium individuals from natural populations, and 65 phenotyped Pilosella individuals from natural and experimental cross populations, to examine their conservation, inheritance and association with reproductive modes. All of the tested LOA and LOP-linked markers were absent in the 20 Hieracium samples irrespective of their reproductive mode. Within Pilosella, LOA and LOP-linked markers were essentially absent within the sexual plants, although they were not conserved in all apomictic individuals. Both loci appeared to be inherited independently, and evidence for additional genetic factors influencing quantitative expression of LOA and LOP was obtained. Collectively, these data suggest independent evolution of apomixis in Hieracium and Pilosella and are discussed with respect to current knowledge of the evolution of apomixis.

• MeSH
• apomixie genetika   MeSH
• Asteraceae genetika   MeSH
• biologická evoluce * MeSH
• DNA chloroplastová genetika   MeSH
• DNA rostlinná genetika   MeSH
• genetické lokusy * MeSH
• genetické markery MeSH
• haplotypy MeSH
• konzervovaná sekvence MeSH
• molekulární sekvence - údaje MeSH
• populační genetika MeSH
• regulace genové exprese u rostlin MeSH
• rostlinné geny * MeSH
• semena rostlinná genetika   MeSH
• typy dědičnosti MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA chloroplastová MeSH
• DNA rostlinná MeSH
• genetické markery MeSH

Mitochondrial DNA and nonrecombinant parts of Y-chromosome DNA are a great tool for looking at a species' past. They are inherited for generations almost unaffected because they do not participate in recombination; thus, the time of occurrence of each mutation can be estimated based on the average mutation rate. Thanks to this, male and female haplogroups guide confirming events in the distant past (potential centers of domestication, settlement of areas, trade connections) as well as in modern breeding (crossbreeding, confirmation of paternity). This research focuses mainly on the development of domestic sheep and its post-domestication expansion, which has occurred through human trade from one continent to another. So far, five mitochondrial and five Y-chromosome haplogroups and dozens of their haplotypes have been detected in domestic sheep through studies worldwide. Mitochondrial DNA variability is more or less correlated with distance from the domestication center, but variability on the recombinant region of the Y chromosome is not. According to available data, central China shows the highest variability of male haplogroups and haplotypes.

• Klíčová slova
• Y chromosome haplotypes, domestication, matrilineal inheritance, mitochondrial haplogroups, patrilineal inheritance,
• MeSH
• chromozom Y genetika   MeSH
• domestikace * MeSH
• fylogeneze MeSH
• genetická variace * MeSH
• haplotypy genetika   MeSH
• mitochondriální DNA genetika   MeSH
• ovce genetika   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• mitochondriální DNA MeSH