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Katerina A. Moutou Zissis Mamuris Tania Firme Maria Kontou Theologia Sarafidou Maria Th. Stoumboudi 《Conservation Genetics》2011,12(5):1159-1171
The patterns of MHC diversity were studied at UAA and DAB1 loci and the two domains involved in the recognition of antigenic peptides (α2 and β1, respectively) in eight Ladigesocypris ghigii populations inhabiting streams and a concrete reservoir, in order to understand the significance of these genes in bottlenecked
populations of an endemic species and develop conservation rationale. In agreement with previous study employing RAPD and
mtDNA markers (Mamuris et al., Freshw Biol 50:1441–1453, 2005), both loci exhibited a very low level of polymorphism with only two and four alleles detected for UAA and DAB1, respectively. The functional MHC diversity was even lower since UAA alleles were distinguished by a single synonymous substitution. The type of habitat did not affect the level of polymorphism.
Our data suggest that DAB1 polymorphism might be the outcome of the positive selection, imposed by the temporal and spatial variation of pathogen load,
and the genetic drift as a result of successive habitat shrinkage and deterioration by water abstraction year after year.
The populations studied were significantly less diverged at MHC loci than expected based on nuclear and mtDNA markers, suggesting
that common parasites might act as causative factors to homogenize selection. Sufficient epidemiological data are required
for the interpretation of the results and decision-making on suitable conservation actions. 相似文献
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Yiannis Vasilopoulos Theologia Sarafidou Kalliopi Kotsa Maria Papadimitriou Yiannis Goutzelas Costas Stamatis Vasilis Bagiatis Xanthi Tsekmekidou John G. Yovos Zissis Mamuris 《Gene》2013
The prevalence of obesity has increased dramatically during the last thirty years in western countries with severe complications for health and economy. Obesity is the outcome of the strong interplay between genetic and environmental factors and is therefore widely expected that the discovery of the many genetic factors underlying the heritable risk of obesity will contribute critically to our basic knowledge of the disease etiopathogenesis and the identification of new targets for therapeutic intervention. The aim of the present study was to assess the genetic contribution of known polymorphisms in two genes that are linked to the pathogenetic mechanism of obesity. Analysis of vitamin D receptor (VDR) TaqI (rs731236; T/C) and fat mass and obesity-associated (FTO) (rs9930506; A/T) polymorphisms in 82 obesity subjects and 102 controls showed significant association for VDR TaqI ‘T’ allele and obesity (OR: 2.07; 1.123–3.816; P = 0.019), contributing to an elevated BMI of 3 kg/m2 per risk allele. No association was observed for the FTO polymorphism. These results further support a role for VDR as risk factor for obesity and suggest its further validation in larger independent populations as well as highlight a target for functional analysis towards therapeutic intervention in obese individuals. 相似文献
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Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. 总被引:1,自引:0,他引:1
Theologia Sarafidou Christina Kahl Isabel Martinez-Garay Marie Mangelsdorf Stefan Gesk Elizabeth Baker Maria Kokkinaki Polly Talley Edna L Maltby Lisa French Lana Harder Bernd Hinzmann Carlo Nobile Kathy Richkind Merran Finnis Panagiotis Deloukas Grant R Sutherland Kerstin Kutsche Nicholas K Moschonas Reiner Siebert Jozef Gécz 《Genomics》2004,84(1):69-81
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Evagelia A. Koutsogiannouli Katerina A. Moutou Theologia Sarafidou Costas Stamatis Zissis Mamuris 《Mammalian Biology》2010,75(1):69-73
The melanocortin-1 receptor (MC1R) regulates melanogenesis in mammals within the mammalian melanocyte and the hair follicle. Common variations (polymorphisms) in the MC1R gene are associated with normal differences in skin and hair colour. So far, a unique MC1R allele (E+) has been identified in European wild boar (Sus scrofa scrofa), associated with the wild-type coat colour (variable shades of brown) that is not found in any of the domestic breeds. In addition, a series of alleles found in pigs, some of which observed only in particular breeds, have been proposed as markers in breed traceability systems. The current study is an attempt to detect possible hybrids between wild boars and domestic pig breeds as well as to identify races of pig that are not purebred. For this purpose, wild boars were analysed against Large White pigs, applying the PCR-restriction fragment length polymorphism (RFLP) method. A high percentage (16.7%) of hybrids was detected within a breeding station compared with the percentage of hybrids within the populations of free-ranging wild boar (5.0%). These results should be taken into consideration for future restocking operations to avoid the chance of outbreeding depression, which is more intense when local populations are introgressed by gene pools from domesticated, usually inbred, animals. 相似文献
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Zissis Mamuris Katerina A. Moutou Costas Stamatis Theologia Sarafidou Franz Suchentrunk 《Mammalian Biology》2010,75(3):233-242
Both the Cytb gene of mtDNA and Y chromosome markers were studied in a relatively large sample of brown hares (L. europaeus) from Europe and Anatolia (Turkey and Israel), together with other seven Lepus species, in order to enable comparative analysis of possible sex-specific gene flow. Furthermore, Y chromosome markers were compared with data from biparentally inherited markers in an attempt to understand whether or not their pattern of distribution was congruent with that of allozymes or whether they rather matched mtDNA phylogenies, with which they share uniparental inheritance. Consistent with the general observation, levels of interspecific genetic variability were very low for the Y chromosome markers compared with mtDNA. Moreover, lack of interspecific variation for the Y-DNA studied within Lepus genus rendered these markers improper for any further phylogenetic analysis. With the highest nucleotide diversity in Anatolia compared with Europe, both marker systems confirmed an unbroken species history in Anatolia, corroborated the hypothesis of continuous gene flow from Anatolia's neighbouring regions, and supported the idea of a quick postglacial colonization followed by expansion of the species in large parts of Europe. Phylogenetic analysis under mtDNA revealed the existence of four different haplogroups with a well defined distribution across Europe and Anatolia. Both genetic systems supported the deep separation of Anatolian and European lineages of L. europaeus. Nevertheless, Anatolian Y-DNA lineages extended across a longer geographic distance in south-eastern Europe than Anatolian mtDNA haplotypes, probably as a result of higher female philopatry that makes mtDNA introgression more difficult in brown hares. 相似文献
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Georgios Renieris Dionysia-Eirini Droggiti Konstantina Katrini Panagiotis Koufargyris Theologia Gkavogianni Eleni Karakike Nikolaos Antonakos Georgia Damoraki Athanasios Karageorgos Labros Sabracos Antonia Katsouda Elisa Jentho Sebastian Weis Rui Wang Michael Bauer Csaba Szabo Kalliopi Platoni Vasilios Kouloulias Andreas Papapetropoulos Evangelos J. Giamarellos-Bourboulis 《PLoS pathogens》2021,17(3)
Hydrogen sulfide (H2S) has recently been recognized as a novel gaseous transmitter with several anti-inflammatory properties. The role of host- derived H2S in infections by Pseudomonas aeruginosa was investigated in clinical and mouse models. H2S concentrations and survival was assessed in septic patients with lung infection. Animal experiments using a model of severe systemic multidrug-resistant P. aeruginosa infection were performed using mice with a constitutive knock-out of cystathionine-γ lyase (Cse) gene (Cse-/-) and wild-type mice with a physiological expression (Cse+/+). Experiments were repeated in mice after a) treatment with cyclophosphamide; b) bone marrow transplantation (BMT) from a Cse+/+ donor; c) treatment with H2S synthesis inhibitor aminooxyacetic acid (ΑΟΑΑ) or propargylglycine (PAG) and d) H2S donor sodium thiosulfate (STS) or GYY3147. Bacterial loads and myeloperoxidase activity were measured in tissue samples. The expression of quorum sensing genes (QS) was determined in vivo and in vitro. Cytokine concentration was measured in serum and incubated splenocytes. Patients survivors at day 28 had significantly higher serum H2S compared to non-survivors. A cut- off point of 5.3 μΜ discriminated survivors with sensitivity 92.3%. Mortality after 28 days was 30.9% and 93.7% in patients with H2S higher and less than 5.3 μΜ (p = 7 x 10−6). In mice expression of Cse and application of STS afforded protection against infection with multidrug-resistant P. aeruginosa. Cyclophosphamide pretreatment eliminated the survival benefit of Cse+/+ mice, whereas BMT increased the survival of Cse-/- mice. Cse-/- mice had increased pathogen loads compared to Cse+/+ mice. Phagocytic activity of leukocytes from Cse-/- mice was reduced but was restored after H2S supplementation. An H2S dependent down- regulation of quorum sensing genes of P.aeruginosa could be demonstrated in vivo and in vitro. Endogenous H2S is a potential independent parameter correlating with the outcome of P. aeruginosa. H2S provides resistance to infection by MDR bacterial pathogens. 相似文献
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