209 results on '"Mamuris Z."'
Search Results
52. Proteins from fish eggs that protect DNA from acid precipitation and inhibit DNA synthesis
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Tsamis, V., Mamuris, Z., Panagiotaki, P., and Kouretas, D.
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- 2001
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53. Relationship between morphologic and genetic variation in red mullet (Mullus barbatus) populations from Greek Seas
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Mamuris, Z., Apostolidis, A. P., Alexandros Triantafyllidis, Economidis, P. S., and Triantaphyllidis, C.
54. The two isoforms of myosin light chain 2 in gilthead sea bream (Sparus aurata); alternative polyadenylation site selection and tissue expression
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Sarropoulou, E., Deborah Power, Mamuris, Z., and Moutou, K. A.
55. Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece.
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Sarri, C. A., Markantoni, M., Hadjichristidoulou, C., and Mamuris, Z.
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EXONS (Genetics) ,SEQUENCE analysis ,HEMATOPOIETIC stem cells ,ALLELES ,HLA histocompatibility antigens - Abstract
The new allele DRB1*11:192 exon 2 differs from the DRB1*11:01:01:01 by three substitutions. [ABSTRACT FROM AUTHOR]
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- 2016
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56. Complete exon 2 sequence of the HLA-DPA1*03:01 allele by sequence-based typing.
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Sarri, C. A., Markantoni, M., Hadjichristodoulou, C., and Mamuris, Z.
- Subjects
EXONS (Genetics) ,SEQUENCE analysis ,HEMATOPOIETIC stem cells ,HLA histocompatibility antigens ,ALLELES - Abstract
Completion of the first 20 nucleotides of exon 2 of DPA1*03:01 allele. [ABSTRACT FROM AUTHOR]
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- 2016
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57. Regulation of corticotropin releasing hormone receptor type 1 messenger RNA level in Y-79 retinoblastoma cells: potential implications for human stress response and immune/inflammatory reaction
- Author
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C. Vamvakopoulos, N., O. Sioutopoulou, T., Mamuris, Z., Marcoulatos, P., and C. Avgerinos, P.
- Abstract
We report the regulation of type 1 receptor mRNA in Y-79 human retinoblastoma cells, grown in the absence or presence of pharmacological levels of phorbol esters, forskolin, glucocorticoids and their combinations. To control for inducibility and for assessing the sensitivity of the Y-79 system to glucocorticoids, corticotropin releasing hormone mRNA levels were measured in parallel. All treatments stimulated corticotropin releasing hormone receptor type 1 gene expression relative to baseline. A weak suppression of corticotropin releasing hormone mRNA level was observed during dexamethasone treatment. The cell line expressed ten-fold excess of receptor to ligand mRNA under basal conditions. The findings predict the presence of functional phorbol ester, cyclic AMP and glucocorticoid response elements in the promoter region of corticotropin releasing hormone receptor type 1 gene and support a potential role for its product during chronic stress and immune/inflammatory reaction.
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- 1996
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58. Unraveling the genetic basis of azoospermia: transcriptome profiling analyses in a Greek population.
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Chatziparasidou A, Sarafidou T, Kyrgiafini MA, Moutou K, Markantoni M, Giannoulis T, Papatheodorou A, Oraiopoulou C, Samolada G, Christoforidis N, and Mamuris Z
- Abstract
Objective: To investigate whether idiopathic nonobstructive azoospermia (iNOA) has its own transcriptomic signature., Design: Testicular tissue biopsies were retrieved, processed, and prepared for ribonucleic acid (RNA) extraction from 26 consented patients diagnosed with iNOA. Samples were grouped into four pools based on the presence of testicular spermatozoa: two replicate pools for "No presence" (Null-spz-1 and Null-spz-2 pools), one for "High presence" (High-spz pool), and one for "Rare presence" (Rare-spz pool). A second set of replicate pools (CF-1 and CF-2) were used from patients with obstructive azoospermia (OA) and served as controls. RNA sequencing (RNA-seq) and comparative transcriptomics analysis were performed, followed by differential gene expression analysis focused on protein-coding genes only. Differentially expressed genes (DEGs) exclusively upregulated or downregulated were further analyzed using the Gene Ontology (GO), STRING, and Kyoto Encyclopedia of Genes and Genome bioinformatic platforms., Setting: Private Fertility Clinic and Public University., Patients: Males in whom iNOA was diagnosed., Exposure: Testicular biopsies from men in whom iNOA was diagnosed., Main Outcome Measures: Protein-coding DEGs., Results: A significantly altered transcriptomic profile of protein-coding genes was identified in the testicular tissues from men with iNOA. A total of 3,858 genes exhibited dysregulated expression, with 1,994 genes being exclusively downregulated and 1,734 upregulated. Biological processes such as male gamete generation (GO:0048232) and meiotic cycle (GO:0051321) were significantly enriched by the downregulated DEGs whereas the upregulated DEGs enriched BPs such as regulation of cell death (GO:0010941), regulation of cell adhesion (GO:0030155), and defense response (GO:0006952). Interactome analysis identified hub genes among the downregulated DEGs, including PCNA, PLK1, MCM4, CDK1, CCNB1, AURKA, CCNA2, and CDC6, and among the upregulated DEGs, including EGFR, RELA, CTNNB1, MYC, JUN, SMAD3, STAT3 NFKB1, TGFB1, and ACTB. In addition, Kyoto Encyclopedia of Genes and Genome analysis demonstrated that pathways such as cell cycle (hsa04110) and oocyte meiosis (hsa04114) are primarily affected by the downregulated genes, whereas the upregulated genes mainly affected pathways such as the focal adhesion (hsa04510) and the PI3-Akt signaling pathway (hsa04151)., Conclusion: A distinct messenger RNA expression profile and altered transcriptomic activity were identified in the testicular tissues of men with iNOA., Clinical Trial Registration Number: University of Thessaly 1, 15.04.2016 and the Greek National Authority 701/15.9.2017., Competing Interests: Declaration of Interests A.C. has nothing to disclose. T.S. has nothing to disclose. K. M.-A. has nothing to disclose. K.M. has nothing to disclose. M.M. has nothing to disclose. T.G. has nothing to disclose. A. P. has nothing to disclose. C.O. has nothing to disclose. G.S. has nothing to disclose. N.C. has nothing to disclose. Z.M. has nothing to disclose., (Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)
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- 2024
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59. ΜicroRNA (miRNA) Variants in Male Infertility: Insights from Whole-Genome Sequencing.
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Kyrgiafini MA, Vasilev VV, Chatziparasidou A, and Mamuris Z
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- Male, Humans, Adult, Asthenozoospermia genetics, Oligospermia genetics, Polymorphism, Single Nucleotide, Teratozoospermia genetics, MicroRNAs genetics, Infertility, Male genetics, Whole Genome Sequencing
- Abstract
Background/objectives: Male infertility is a complex condition with various underlying genetic factors. microRNAs (miRNAs) play a crucial role in gene regulation, and their disruption can significantly impact fertility. This study aimed to identify variants within miRNA genes and elucidate their impact on male infertility., Methods: Whole genome sequencing was performed on blood samples from men with asthenozoospermia, oligozoospermia, and teratozoospermia, compared to normozoospermic controls. The analysis revealed a significant number of unique variants in each infertile group. We subsequently focused on variants in miRNA regions, followed by an in silico analysis to investigate the role of the identified variants and miRNAs in male infertility., Results: Focused analysis on miRNA genes identified 19 exclusive variants in teratozoospermic men, 24 in asthenozoospermic, and 27 in oligozoospermic, all mapping to pre-miRNAs or mature miRNAs. Functional analyses using Gene Ontology (GO) and KEGG pathways highlighted key biological processes and pathways disrupted by these variants and miRNA-mRNA interactions, including transcription regulation, signaling, and cancer-related pathways. Furthermore, six variants (rs17797090, rs1844035, rs7210937, rs451887, rs12233076, and rs6787734) were common across the infertile groups, suggesting their importance in male infertility or their potential as biomarkers. Common variants were also validated in another clinically relevant group of men. Some miRNAs with identified variants, such as hsa-miR-449b and hsa-miR-296, have been previously implicated in male infertility and exhibit differential expression between fertile and infertile men, according to the literature, too., Conclusion: These results provide new insights into the genetic basis of male infertility and open avenues for future research and therapeutic interventions.
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- 2024
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60. Genetic Insights into Azoospermia and Severe Oligozoospermia: Discovering Seven SNPs through GWAS and In Silico Analysis.
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Chatziparasidou A, Kyrgiafini MA, Sarafidou T, Moutou KA, and Mamuris Z
- Abstract
Azoospermia and severe oligozoospermia represent the most extreme forms of male infertility. Despite their prevalence, the genetic foundations of these conditions are not well understood, with only a limited number of genetic factors identified so far. This study aimed to identify single-nucleotide polymorphisms (SNPs) linked to both azoospermia and severe oligozoospermia. We conducted a genome-wide association study (GWAS) involving 280 Greek males with normal semen parameters and 85 Greek males diagnosed with either azoospermia or severe oligozoospermia. Following rigorous quality control measures, our analysis identified seven SNPs associated with azoospermia/severe oligozoospermia. An in silico functional annotation was subsequently used to further investigate their role. These SNPs, found in regions not previously associated with male reproductive disorders, suggest novel genetic pathways that may contribute to these forms of infertility and pave the way for future studies. Additionally, this study sheds light on the significant role of noncoding RNAs in the pathogenesis of male infertility, with three of the identified SNPs situated in long intergenic non-coding RNAs (lincRNAs). Our findings highlight the intricate genetic landscape of azoospermia and severe oligozoospermia, underlining the necessity for more detailed studies to fully grasp the underlying mechanisms and their potential for informing diagnostic and therapeutic strategies.
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- 2024
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61. Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis.
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Kyrgiafini MA, Giannoulis T, Chatziparasidou A, and Mamuris Z
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- Male, Humans, Oxidative Phosphorylation, Sperm Motility genetics, Whole Genome Sequencing, Asthenozoospermia genetics, Infertility, Male genetics
- Abstract
Infertility is a global health challenge that affects an estimated 72.4 million people worldwide. Between 30 and 50% of these cases involve male factors, showcasing the complex nature of male infertility, which can be attributed to both environmental and genetic determinants. Asthenozoospermia, a condition characterized by reduced sperm motility, stands out as a significant contributor to male infertility. This study explores the involvement of the mitochondrial oxidative phosphorylation (OXPHOS) system, crucial for ATP production and sperm motility, in asthenozoospermia. Through whole-genome sequencing and in silico analysis, our aim was to identify and characterize OXPHOS gene variants specific to individuals with asthenozoospermia. Our analysis identified 680,099 unique variants, with 309 located within OXPHOS genes. Nine of these variants were prioritized due to their significant implications, such as potential associations with diseases, effects on gene expression, protein function, etc. Interestingly, none of these variants had been previously associated with male infertility, opening up new avenues for research. Thus, through our comprehensive approach, we provide valuable insights into the genetic factors that influence sperm motility, laying the foundation for future research in the field of male infertility.
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- 2024
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62. Feature Papers in Population and Evolutionary Genetics and Genomics 2023: Unraveling Population Dynamics, Diversity, and Evolutionary Paths.
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Kyrgiafini MA and Mamuris Z
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- Humans, Evolution, Molecular, Population Dynamics, Genetic Variation, Animals, Biological Evolution, Genetics, Population, Genomics methods
- Abstract
The dialogue between population genetics and evolutionary biology, which historically followed separate paths, has now developed into a complex and interdisciplinary field of study [...].
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- 2024
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63. PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis.
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Liadaki K, Zafiriou E, Giannoulis T, Alexouda S, Chaidaki K, Gidarokosta P, Roussaki-Schulze AV, Tsiogkas SG, Daponte A, Mamuris Z, Bogdanos DP, Moschonas NK, and Sarafidou T
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- Humans, Cytochrome P-450 CYP3A, Thalidomide therapeutic use, Thalidomide adverse effects, Arthritis, Psoriatic chemically induced, Arthritis, Psoriatic drug therapy, Psoriasis drug therapy, Psoriasis genetics, Thalidomide analogs & derivatives
- Abstract
Moderate-to-severe psoriasis (Ps) treatment includes systemic drugs and biological agents. Apremilast, a small molecule primarily metabolized by cytochrome CYP3A4, modulates the immune system by specifically inhibiting phosphodiesterase type 4 (PDE4) isoforms and is currently used for the treatment of Ps and psoriatic arthritis (PsA). Clinical trials and real-world data showed variable efficacy in response among Ps patients underlying the need for personalized therapy. This study implements a candidate-gene and a network-based approach to identify genetic markers associated with apremilast response in forty-nine Greek Ps patients. Our data revealed an association of sixty-four SNPs within or near PDE4 and CYP3A4 genes, four SNPs in ncRNAs ANRIL , LINC00941 and miR4706 , which influence the abundance or function of PDE4s, and thirty-three SNPs within fourteen genes whose protein products either interact directly with PDE4 proteins or constitute components of the cAMP signaling pathway which is modulated by PDE4s. Notably, fifty-six of the aforementioned SNPs constitute eQTLs for the respective genes in relevant to psoriasis tissues/cells implying that these variants could be causal. Our analysis provides a number of novel genetic variants that, upon validation in larger cohorts, could be utilized as predictive markers regarding the response of Ps patients to apremilast treatment.
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- 2024
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64. Understanding Circular RNAs in Health, Welfare, and Productive Traits of Cattle, Goats, and Sheep.
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Kirgiafini D, Kyrgiafini MA, Gournaris T, and Mamuris Z
- Abstract
Circular RNAs (circRNAs) are unique noncoding RNA molecules, notable for their covalent closed-loop structures, which play a crucial role in regulating gene expression across a variety of biological processes. This review comprehensively synthesizes the existing knowledge of circRNAs in three key livestock species: Bos taurus (cattle), Ovis aries (sheep), and Capra hircus (goats). It focuses on their functional importance and emerging potential as biomarkers for disease detection, stress response, and overall physiological health. Specifically, it delves into the expression and functionality of circRNAs in these species, paying special attention to traits critical to livestock productivity such as milk production, meat quality, muscle development, wool production, immune responses, etc. We also address the current challenges faced in circRNA research, including the need for standardized methodologies and broader studies. By providing insights into the molecular mechanisms regulated by circRNAs, this review underscores their scientific and economic relevance in the livestock industry. The potential of circRNAs to improve animal health management and the quality of animal-derived products aligns with growing consumer concerns for animal welfare and sustainability. Thus, this paper aims to guide future research directions while supporting the development of innovative strategies in livestock management and breeding.
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- 2024
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65. MassArray Genotyping as a Selection Tool for Extending the Shelf-Life of Fresh Gilthead Sea Bream and European Seabass.
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Angelakopoulos R, Tsipourlianos A, Giannoulis T, Mamuris Z, and Moutou KA
- Abstract
In modern aquaculture, genomics-driven breeding programs have emerged as powerful tools for optimizing fish quality. This study focused on two emblematic Mediterranean fish species, the European seabass ( Dicentrarchus labrax ) and the gilthead sea bream ( Sparus aurata ), with a primary aim of exploring the genetic basis of white muscle/fillet degradation in fresh fish following harvest. We identified 57 and 44 missense SNPs in gilthead sea bream and European seabass, respectively, located within genes encoding for endogenous proteases responsible for fillet quality. These SNPs were cherry-picked based on their strategic location within the catalytic/regulatory domains of endogenous proteases that are expressed in the white muscle. Using MassArray technology, we successfully associated differentiated enzymatic activity of those endogenous proteases post-harvest as a phenotypic trait with genetic polymorphism of six SNPs in gilthead sea bream and nine in European seabass. These findings can be valuable attributes in selective breeding programs toward the extension of freshness and shelf life of these species. The integration of MassArray technology into breeding programs offers a cost-effective strategy for harnessing the potential of these genetic variants to enhance the overall quality of the final product. Recognizing that fresh fish perishability is a challenge, extending shelf-life is pivotal in reducing losses and production costs.
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- 2024
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66. Unveiling the Genetic Complexity of Teratozoospermia: Integrated Genomic Analysis Reveals Novel Insights into lncRNAs' Role in Male Infertility.
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Kyrgiafini MA, Giannoulis T, Chatziparasidou A, Christoforidis N, and Mamuris Z
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- Humans, Male, Genomics, Gene Regulatory Networks, Gene Expression Profiling, RNA, Long Noncoding genetics, RNA, Long Noncoding metabolism, Teratozoospermia genetics, MicroRNAs genetics, MicroRNAs metabolism, Infertility, Male genetics
- Abstract
Male infertility is a global health issue, affecting over 20 million men worldwide. Genetic factors are crucial in various male infertility forms, including teratozoospermia. Nonetheless, the genetic causes of male infertility remain largely unexplored. In this study, we employed whole-genome sequencing and RNA expression analysis to detect differentially expressed (DE) long-noncoding RNAs (lncRNAs) in teratozoospermia, along with mutations that are exclusive to teratozoospermic individuals within these DE lncRNAs regions. Bioinformatic tools were used to assess variants' impact on lncRNA structure, function, and lncRNA-miRNA interactions. Our analysis identified 1166 unique mutations in teratozoospermic men within DE lncRNAs, distinguishing them from normozoospermic men. Among these, 64 variants in 23 lncRNAs showed potential regulatory roles, 7 variants affected 4 lncRNA structures, while 37 variants in 17 lncRNAs caused miRNA target loss or gain. Pathway Enrichment and Gene Ontology analyses of the genes targeted by the affected miRNAs revealed dysregulated pathways in teratozoospermia and a link between male infertility and cancer. This study lists novel variants and lncRNAs associated for the first time with teratozoospermia. These findings pave the way for future studies aiming to enhance diagnosis and therapy in the field of male infertility.
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- 2023
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67. Circular RNAs and Their Role in Male Infertility: A Systematic Review.
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Kyrgiafini MA and Mamuris Z
- Subjects
- Humans, Male, RNA, Circular genetics, Semen, Biomarkers, MicroRNAs genetics, Infertility, Male genetics
- Abstract
Male infertility is a global health problem that is on the rise. Today, many noncoding RNAs (ncRNAs) are associated with male infertility. Circular RNAs (circRNAs) have recently drawn attention, but a comprehensive understanding of the role of circRNAs in male infertility is limited. This systematic review investigates the differential expression of circRNAs in male infertility or circRNAs that could serve as candidate biomarkers. The PRISMA guidelines were used to search PubMed and Web of Science on 11 January 2023. Inclusion criteria were human participants, experimental studies aiming to associate circRNAs with male infertility reporting differentially expressed circRNAs, and the English language. A total of 156 articles were found, and after the screening and eligibility stages, 13 studies were included in the final sample. Many circRNAs are deregulated in male infertility, and their interactions with miRNAs play an important role in affecting cellular processes and pathways. CircRNAs could also be used as biomarkers to screen patients before sperm retrieval. However, most studies focus on the role of circRNAs in azoospermia, and there is a knowledge gap regarding other subtypes of male infertility. Future research is needed to explore the exact mechanism of action of circRNAs and investigate their use as biomarkers.
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- 2023
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68. Male Infertility: From Genes to Genomes 2022.
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Kyrgiafini MA and Mamuris Z
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- Humans, Male, Infertility, Male genetics
- Abstract
Infertility is defined as the inability to conceive after at least 12 months of regular, unprotected sexual intercourse and it is considered an alarming global health issue [...].
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- 2023
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69. Gene-by-Sex Interactions: Genome-Wide Association Study Reveals Five SNPs Associated with Obesity and Overweight in a Male Population.
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Kyrgiafini MA, Sarafidou T, Giannoulis T, Chatziparasidou A, Christoforidis N, and Mamuris Z
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- Humans, Male, Polymorphism, Single Nucleotide genetics, Obesity genetics, Quantitative Trait Loci genetics, Overweight genetics, Genome-Wide Association Study
- Abstract
Obesity is a chronic health problem associated with severe complications and with an increasing prevalence in the Western world. Body-fat composition and distribution are closely associated with obesity, but the human body's composition is a sexually dimorphic trait, as differences between the two sexes are evident even from fetal life. The effect of sex hormones contributes to this phenomenon. However, studies investigating gene-by-sex interactions for obesity are limited. Therefore, the aim of the present study was to identify single-nucleotide polymorphisms (SNPs) associated with obesity and overweight in a male population. A genome-wide association study (GWAS) that included 104 control, 125 overweight, and 61 obese subjects revealed four SNPs associated with overweight (rs7818910, rs7863750, rs1554116, and rs7500401) and one SNP (rs114252547) associated with obesity in males. An in silico functional annotation was subsequently used to further investigate their role. Most of the SNPs were found in genes regulating energy metabolism and homeostasis, and some of them were expression quantitative trait loci (eQTL). These findings contribute to the understanding of the molecular mechanisms underlying obesity-related traits, especially in males, and pave the road for future research toward the improvement of the diagnosis and therapy of obese individuals.
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- 2023
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70. West Nile virus-associated HLA-DRB1 alleles in the Greek population: A structural perspective.
- Author
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Sarri CA, Papadopoulos GE, and Mamuris Z
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- Humans, HLA-DRB1 Chains genetics, HLA-DRB1 Chains metabolism, Alleles, Greece, Peptides, Genetic Predisposition to Disease, West Nile virus genetics, West Nile virus metabolism
- Abstract
The HLA system plays a significant role via the regulation of the immune system and contributes to the progression and protection of many diseases. In our previous study, several HLA-DRB1 alleles were found to have a susceptible or protective role toward infection and neuroinvasion of West Nile Virus (WNV) in the Greek population. As expected, the majority of polymorphic positions are located in the peptide-binding region of the molecule. In the present work, the structure of these alleles was studied in silico, to examine the effect of polymorphism on the conformation of DRB1 proteins, with the aspect of WNV association. More specifically, molecular dynamics simulations were used for structural prediction of 23 available alleles. These modeled alleles were evaluated using root-mean-square deviation (RMSD) and root-mean-square fluctuation analysis. Low RMSD values indicate that different alleles have similar structures. Furthermore, low fluctuation was observed in the peptide-binding region between alleles with the higher and the lowest RMSD values. These findings indicate that probably variable residues do not affect the behavior of DRB1 alleles in WNV disease, by causing structural differences between them., (© 2022 The Authors. Microbiology and Immunology published by The Societies and John Wiley & Sons Australia, Ltd.)
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- 2023
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71. Genetic diversity and thermotolerance in Holstein cows: Pathway analysis and marker development using whole-genome sequencing.
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Kalemkeridou M, Nanas I, Moutou K, Amiridis GS, Tsipourlianos A, Dovolou E, Mamuris Z, and Giannoulis T
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- Female, Cattle genetics, Animals, Hot Temperature, Heat-Shock Response genetics, Reproduction, Genetic Variation, Lactation physiology, Thermotolerance genetics
- Abstract
Heat stress causes extensive losses in the dairy sector, due to negative effects on milk production and reproduction. Cows have evolved a series of protective mechanisms, (physiological, biochemical, behavioural) to cope with the thermostressing environments, which have allowed the preservation of productive and reproductive potential of specific animals during summer; these animals are considered thermotolerant and could be used to design programs of selective breeding. These programs, targeting the generations of a population of heat-resistant animals, would increase the frequency of the desired phenotypes, tackling the financial losses on one hand and reducing the carbon footprints of the dairy sector on the other. The development of genomics techniques has enabled genome wide variant calling, to detect SNPs associated with the desired phenotypes. In this study, we used a comparative genomics approach to detect genetic variation associated with thermotolerance and to design molecular markers for characterizing the animals as tolerant/sensitive. A total of 40 cows from each group were split in four sequencing pools and a whole-genome sequencing approach was used. Results and conclusion: Genome-wide genetic variation between groups was characterized and enrichment analysis revealed specific pathways which participate in the adaptive mechanisms of thermotolerance, implicated into systemic and cellular responses, including the immune system functionality, Heat Stress and Unfolded Protein Response. The markers made a promising set of results, as specific SNPs in five genes encoding for Heat Shock Proteins were significantly associated with thermotolerance., (© 2022 Wiley-VCH GmbH.)
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- 2023
- Full Text
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72. Special Issue "Feature Papers in Population and Evolutionary Genetics and Genomics".
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Kyrgiafini MA and Mamuris Z
- Subjects
- Biological Evolution, Genomics
- Abstract
Theodosius Dobzhansky famously wrote in 1973 that "nothing in biology makes sense except in the light of evolution" [...].
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- 2022
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73. Investigating the Impact of a Curse: Diseases, Population Isolation, Evolution and the Mother's Curse.
- Author
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Kyrgiafini MA, Giannoulis T, Moutou KA, and Mamuris Z
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- Male, Female, Humans, DNA, Mitochondrial genetics, Maternal Inheritance genetics, Mitochondria genetics, Mothers, Genome, Mitochondrial genetics
- Abstract
The mitochondrion was characterized for years as the energy factory of the cell, but now its role in many more cellular processes is recognized. The mitochondrion and mitochondrial DNA (mtDNA) also possess a set of distinct properties, including maternal inheritance, that creates the Mother's Curse phenomenon. As mtDNA is inherited from females to all offspring, mutations that are harmful to males tend to accumulate more easily. The Mother's Curse is associated with various diseases, and has a significant effect on males, in many cases even affecting their reproductive ability. Sometimes, it even leads to reproductive isolation, as in crosses between different populations, the mitochondrial genome cannot cooperate effectively with the nuclear one resulting in a mito-nuclear incompatibility and reduce the fitness of the hybrids. This phenomenon is observed both in the laboratory and in natural populations, and have the potential to influence their evolution and speciation. Therefore, it turns out that the study of mitochondria is an exciting field that finds many applications, including pest control, and it can shed light on the molecular mechanism of several diseases, improving successful diagnosis and therapeutics. Finally, mito-nuclear co-adaptation, paternal leakage, and kin selection are some mechanisms that can mitigate the impact of the Mother's Curse.
- Published
- 2022
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74. The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis.
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Kyrgiafini MA, Sarafidou T, and Mamuris Z
- Abstract
Male infertility is a complex disorder affecting many couples worldwide. Long noncoding RNAs (lncRNAs) regulate important cellular processes; however, a comprehensive understanding of their role in male infertility is limited. This systematic review investigates the differential expressions of lncRNAs in male infertility or variations in lncRNA regions associated with it. The PRISMA guidelines were used to search Pubmed and Web of Science (1 June 2022). Inclusion criteria were human participants, patients diagnosed with male infertility, and English language speakers. We also performed an in silico analysis investigating lncRNAs that are reported in many subtypes of male infertility. A total of 625 articles were found, and after the screening and eligibility stages, 20 studies were included in the final sample. Many lncRNAs are deregulated in male infertility, and interactions between lncRNAs and miRNAs play an important role. However, there is a knowledge gap regarding the impact of variants found in lncRNA regions. Furthermore, eight lncRNAs were identified as differentially expressed in many subtypes of male infertility. After in silico analysis, gene ontology (GO) and KEGG enrichment analysis of the genes targeted by them revealed their association with bladder and prostate cancer. However, pathways involved in general in tumorigenesis and cancer development of all types, such as p53 pathways, apoptosis, and cell death, were also enriched, indicating a link between cancer and male infertility. This evidence, however, is preliminary. Future research is needed to explore the exact mechanism of action of the identified lncRNAs and investigate the association between male infertility and cancer.
- Published
- 2022
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75. Whole-Genome Profile of Greek Patients with Teratozοοspermia: Identification of Candidate Variants and Genes.
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Kyrgiafini MA, Giannoulis T, Chatziparasidou A, Christoforidis N, and Mamuris Z
- Subjects
- Gene Ontology, Greece, Humans, Male, Whole Genome Sequencing, Infertility, Male genetics, Teratozoospermia genetics
- Abstract
Male infertility is a global health problem that affects a large number of couples worldwide. It can be categorized into specific subtypes, including teratozoospermia. The present study aimed to identify new variants associated with teratozoospermia in the Greek population and to explore the role of genes on which these were identified. For this reason, whole-genome sequencing (WGS) was performed on normozoospermic and teratozoospermic individuals, and after selecting only variants found in teratozoospermic men, these were further prioritized using a wide range of tools, functional and predictive algorithms, etc. An average of 600,000 variants were identified, and of them, 61 were characterized as high impact and 153 as moderate impact. Many of these are mapped in genes previously associated with male infertility, yet others are related for the first time to teratozoospermia. Furthermore, pathway enrichment analysis and Gene ontology (GO) analyses revealed the important role of the extracellular matrix in teratozoospermia. Therefore, the present study confirms the contribution of genes studied in the past to male infertility and sheds light on new molecular mechanisms by providing a list of variants and candidate genes associated with teratozoospermia in the Greek population.
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- 2022
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76. Oviductal epithelial cells transcriptome and extracellular vesicles characterization during thermoneutral and heat stress conditions in dairy cows.
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Stamperna K, Giannoulis T, Cañon-Beltrán K, Dovolou E, Kalemkeridou M, Nanas I, Rizos D, Moutou KA, Mamuris Z, and Amiridis GS
- Subjects
- Animals, Cattle, Epithelial Cells, Female, Heat-Shock Response, Oviducts metabolism, Progesterone metabolism, Transcriptome, Cattle Diseases genetics, Cattle Diseases metabolism, Extracellular Vesicles metabolism, Heat Stress Disorders genetics, Heat Stress Disorders metabolism, Heat Stress Disorders veterinary
- Abstract
In this study, the transcriptome of oviductal epithelial cells and certain characteristics of their extracellular vesicles of dairy cows were described under thermoneutral and heat stress conditions. Twenty cows were compared in springtime at THI = 65.6 ± 0.90 and in summertime at THI = 78.36 ± 2.73. During each season, the estrous cycles of the cows were synchronized, and on day 3 of the ensuing cycle, a blood sample was collected for progesterone determination, while their oviducts were collected after slaughter. Epithelial cells and oviductal fluid were collected from the oviduct ipsilateral and contralateral to the corpus, respectively. For the gene expression study, a comparative transcriptomic approach, using RNASeq, was performed on cells collected from the ipsilateral and the contralateral oviducts. The size and the concentration of extracellular vesicles (EVs) at both seasons were analyzed using Transmission Electron Microscopy and Nanoparticle tracking analysis and specific proteins were detected by Western blotting. Progesterone concentration was higher during the thermoneutral period. Between seasons, divergent expression of genes related to immune system, contractility, gamete protection and lncRNAs was found. The size and the concentration of the EVs did not differ between seasons, however, the concentration in the ipsilateral oviduct tended to be lower (p = 0.09) from the contralateral one in the summer, but not in the spring. Our results show for the first time that HS could be involved with alterations in the oviductal cells' gene expression and in the changes in concentration of EVs in the oviductal lumen. Our results imply that the altered oviductal environment during HS could be associated with the suppressed summer fertility in dairy cows., (Copyright © 2022 Elsevier Inc. All rights reserved.)
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- 2022
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77. Male infertility and the impact of lifestyle in the Greek population: A case-control study.
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Markantoni M, Sarafidou T, Chatziparasidou A, Christoforidis N, and Mamuris Z
- Abstract
Background and Aims: Collection of epidemiological data has become a crucial step in every fertility evaluation, especially regarding idiopathic male infertility. Information on data such as tobacco smoking, alcohol intake, and body mass index can provide crucial information regarding the dynamics between fertility status and everyday practices. We aim to set the base for epidemiological studies on male infertility in the Greek population., Methods: Four hundred and fourteen Greek volunteers were asked to fill in a questionnaire regarding their characteristics and lifestyle preferences, followed by a seminogram. Depending on their answers, they were divided into groups and data were analyzed for correlation with seminogram parameters using Spearman's rank correlation test., Results: Our results indicate that a high body mass index (BMI) is negatively correlated with all three seminogram parameters (number, motility, and morphology) and exposure to radiation or chemicals is negatively correlated with sperm motility, with a p < 0.01., Conclusions: These findings indicate negative correlations of BMI and exposure to radiation/chemicals with semen parameters in the Greek population. Such information can be used to plan a diagnostic approach or even therapeutic interventions., Competing Interests: The authors declare no conflict of interest., (© 2022 The Authors. Health Science Reports published by Wiley Periodicals LLC.)
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- 2022
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78. Meta-analysis of gene expression data in adipose tissue reveals new obesity associated genes.
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Goutzelas Y, Kontou P, Mamuris Z, Bagos P, and Sarafidou T
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- Adult, False Positive Reactions, Female, Gene Expression Profiling, Gene Ontology, Genome-Wide Association Study, Humans, Male, Middle Aged, Protein Interaction Maps genetics, Adipose Tissue metabolism, Gene Expression Regulation, Obesity genetics
- Abstract
High-throughput transcriptomic and proteomic data like microarray data are deposited in public databases such as Gene Expression Omnibus (GEO). Omics data integration and processing from different and independent studies is achieved by using efficient and effective computational tools through meta-analysis. Meta-analysis is a statistical powerful tool combining data from numerous studies, minimizes bias and increases statistical power by increasing sample size compared to individual studies. Therefore, we performed a meta-analysis of gene expression data in adipose tissue to identify genes that are differentially expressed between obese and non-obese subjects as well as to detect gene expression signatures, pathways and networks associated with obesity. We identified 821 differentially expressed genes (DEGs) in adipose tissue of obese subjects compared to non-obese. A protein-protein interactions (PPIs) network was reconstructed consisting of 168 proteins. Functional enrichment analysis in the network revealed proteins involved in RNA and energy metabolism. The KEGG pathway analysis revealed 15 enriched pathway terms. Furthermore, multiple testing correction methods identified five statistically significant obesity associated genes (NDUFA12, SFI1, SSB, FAR2 and LACE1) that require further investigation., (Copyright © 2022 Elsevier B.V. All rights reserved.)
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- 2022
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79. The Effects of Heat Shock Protein 70 Addition in the Culture Medium on the Development and Quality of In Vitro Produced Heat Shocked Bovine Embryos.
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Stamperna K, Giannoulis T, Dovolou E, Kalemkeridou M, Nanas I, Dadouli K, Moutou K, Mamuris Z, and Amiridis GS
- Abstract
The aims of the present study were to examine the effects of HSP70 addition in the in vitro culture medium of day 3 embryos on their developmental competence and quality. Bovine oocytes ( n = 1442) were in vitro matured, inseminated and cultured for the first two days according to standardized methods. The presumptive zygotes were randomly allocated in three experimental groups: Control, C (embryos cultured at 39 °C throughout the culture period), group C41 (temperature was raised to 41 °C from the 48th to 72nd h post insemination (p.i.) and then it returned at 39 °C for the remaining culture period), and group H41 (the temperature modification was the same as in C41 and during heat exposure, HSP70 was added in the culture medium). Cleavage and embryo yield were assessed 48 h p.i. and on days 7, 8, 9, respectively and gene expression in day 7 blastocysts was assessed by RT-PCR. Blastocyst yield was the highest in group C39; and higher in group H41 compared to group C41. From the gene expression analyses, altered expression of 11 genes was detected among groups. The analysis of the orchestrated patterns of gene expression differed between groups. The results of this study confirm the devastating effects of heat stress on embryo development and provide evidence that HSP70 addition at the critical stages can partly counterbalance, without neutralizing, the negative effects of the heat insult on embryos, acting mainly through mechanisms related to energy deployment.
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- 2021
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80. HLA class II peptide-binding-region analysis reveals funneling of polymorphism in action.
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Sarri CA, Giannoulis T, Moutou KA, and Mamuris Z
- Subjects
- Alleles, Amino Acid Motifs, Amino Acid Sequence, Base Sequence, HLA-DQ beta-Chains chemistry, HLA-DQ beta-Chains genetics, HLA-DQ beta-Chains immunology, Histocompatibility Antigens Class II chemistry, Humans, Peptides chemistry, Binding Sites, Histocompatibility Antigens Class II genetics, Histocompatibility Antigens Class II immunology, Peptides immunology, Polymorphism, Genetic
- Abstract
Background: HLA-class II proteins hold important roles in key physiological processes. The purpose of this study was to compile all class II alleles reported in human population and investigate patterns in pocket variants and their combinations, focusing on the peptide-binding region (PBR)., Methods: For this purpose, all protein sequences of DPA1, DQA1, DPB1, DQB1 and DRB1 were selected and filtered, in order to have full PBR sequences. Proportional representation was used for pocket variants while population data were also used., Results: All pocket variants and PBR sequences were retrieved and analyzed based on the preference of amino acids and their properties in all pocket positions. The observed number of pocket variants combinations was much lower than the possible inferred, suggesting that PBR formation is under strict funneling. Also, although class II proteins are very polymorphic, in the majority of the reported alleles in all populations, a significantly less polymorphic pocket core was found., Conclusions: Pocket variability of five HLA class II proteins was studied revealing favorable properties of each protein. The actual PBR sequences of HLA class II proteins appear to be governed by restrictions that lead to the establishment of only a fraction of the possible combinations and the polymorphism recorded is the result of intense funneling based on function., (Copyright © 2021 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.)
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- 2021
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81. Developmental competence of heat stressed oocytes from Holstein and Limousine cows matured in vitro.
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Stamperna K, Dovolou E, Giannoulis T, Kalemkeridou M, Nanas I, Dadouli K, Moutou K, Mamuris Z, and Amiridis GS
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- Animals, Blastocyst, Cattle, Cumulus Cells physiology, Embryonic Development, Female, Fertility genetics, Gene Expression Regulation, In Vitro Oocyte Maturation Techniques methods, Heat-Shock Response genetics, In Vitro Oocyte Maturation Techniques veterinary, Oocytes physiology
- Abstract
The negative effects of heat stress on dairy cattle's fertility have been extensively studied, but the relevant knowledge for beef cattle is rather limited. The aims of this study were to investigate the effects of HS during in vitro maturation on the developmental potential of oocytes derived from Limousine and Holstein cows and to estimate the effect of the differential gene expression of important genes in oocytes, cumulus cells and blastocysts in the growth competence between the breeds. In seven replicates, cumulus oocyte complexes from Holstein and Limousine cows were matured for 24 hr at 39°C (controls C; Hol_39, Lim_39) or at 41°C from hour 2 to hour 8 of IVM (treated T; Hol_41, Lim_41), fertilized, and presumptive zygotes were cultured for 9 days at 39°C. Cleavage and embryo formation rates were evaluated 48 hr post-insemination and on days 7, 8 and 9, respectively. From all groups, subsets of cumulus cells, oocytes and blastocysts were analysed for the relative expression of genes related to metabolism, stress, apoptosis and placentation. No difference was detected in cleavage rate or in blastocyst formation rate among the control groups. In both breeds, heat stress reduced blastocyst yield, but at all days the suppression was higher in Limousines. In Holsteins, altered gene expression was detected in cumulus cells (G6PD, GLUT1) and blastocysts (PLAC8), while in Limousines, differences were found in oocytes (G6PD, HSP90AA1), in cumulus cells (CPT1B, HSP90AA1, SOD2) and blastocysts (DNMT, HSP90AA1, SOD2). It appears that Holstein COCs are more tolerant than Limousine COCs, possibly due to compulsory, production driven selection., (© 2021 Wiley-VCH GmbH.)
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- 2021
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82. Heat Shock Protein 70 Improves In Vitro Embryo Yield and Quality from Heat Stressed Bovine Oocytes.
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Stamperna K, Giannoulis T, Dovolou E, Kalemkeridou M, Nanas I, Dadouli K, Moutou K, Mamuris Z, and Amiridis GS
- Abstract
Heat shock protein 70 (HSP70) is a chaperon that stabilizes unfolded or partially folded proteins, preventing inappropriate inter- and intramolecular interactions. Here, we examined the developmental competence of in vitro matured oocytes exposed to heat stress with or without HSP70. Bovine oocytes were matured for 24 h at 39 °C without (group C39) or with HSP70 (group H39) and at 41 °C for the first 6 h, followed by 16 h at 39 °C with (group H41) or without HSP70 (group C41). After insemination, zygotes were cultured for 9 days at 39 °C. Cleavage and embryo yield were assessed 48 h post insemination and on days 7, 8, 9, respectively. Gene expression was assessed by RT-PCR in oocytes, cumulus cells and blastocysts. In C41, blastocysts formation rate was lower than in C39 and on day 9 it was lower than in H41. In oocytes, HSP70 enhanced the expression of three HSP genes regardless of incubation temperature. HSP70 at 39 °C led to tight coordination of gene expression in oocytes and blastocysts, but not in cumulus cells. Our results imply that HSP70, by preventing apoptosis, supporting signal transduction, and increasing antioxidant protection of the embryo, protects heat stressed maturing bovine oocyte and restores its developmental competence.
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- 2021
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83. Replicating a GWAS: two novel candidate markers for oligospermia in Greek population.
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Markantoni M, Sarafidou T, Kyrgiafini MA, Chatziparasidou A, Christoforidis N, Dafopoulos K, and Mamuris Z
- Subjects
- Adult, Genetic Predisposition to Disease, Greece, Humans, Infertility, Male diagnosis, Infertility, Male genetics, Kinesins genetics, Male, Methyltransferases genetics, Middle Aged, Polymorphism, Single Nucleotide, White People genetics, Biomarkers, Genome-Wide Association Study, Oligospermia diagnosis, Oligospermia genetics
- Abstract
Genome-wide association studies have paved the way for the discovery of new markers regarding many diseases, including male infertility. A previous study on Caucasians highlighted 172 polymorphisms for their putative association with male infertility and we attempted to replicate these findings on our dataset comprising of Greek male individuals (n = 360). We retrieved 59 out of 172 polymorphisms and tested for all association models on 278 normospermic men and 82 patients with an abnormal seminogram, later separated into oligozoospermic and asthenozoospermic groups. Our findings indicate that two SNPs (rs2296225 in KIF17, rs7224496 in SMYD4) are associated with male infertility in the Greek population and have not been recorded in literature as of yet. These novel markers need further validation via additional studies and an increased individual number. All in all, replication studies, possess the power to validate existing polymorphisms found across all population and thus increase both statistical significance as well as identify novel potentially diagnostic markers.
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- 2021
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84. MLST-Based Analysis and Antimicrobial Resistance of Staphylococcus epidermidis from Cases of Sheep Mastitis in Greece.
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Katsarou EI, Chatzopoulos DC, Giannoulis T, Ioannidi KS, Katsafadou AI, Kontou PI, Lianou DT, Mamuris Z, Mavrogianni VS, Michael CK, Papadopoulos E, Petinaki E, Sarrou S, Vasileiou NGC, and Fthenakis GC
- Abstract
Staphylococcus epidermidis is an important causal agent of ovine mastitis. A literature search indicated a lack of systematic studies of causal agents of the infection by using multi-locus sequence typing (MLST). The objectives were to analyse MLST-based data and evaluate the antimicrobial resistance of S. epidermidis isolates from ovine mastitis in Greece. The database included 1593 isolates from 46 countries: 1215 of human, 195 of environmental and 134 of animal origin, distributed into 949 sequence types (STs) and cumulatively with 450 alleles therein. Among mastitis isolates, bovine isolates were distributed into 36 different STs and ovine ones into 15 STs. The 33 isolates from ovine mastitis in Greece were in 15 different STs, 6 of these (ST677, ST678, ST700, ST 709, ST710, ST711) assigned for the first time; in addition, 5 alleles (65 for arcC , 59 for aroE , 56 and 57 for gtr and 48 for tpiA ) were identified for the first time. The spanning tree of these isolates included 15 nodes and 14 edges (i.e., branches). Among these isolates, 19 showed resistance to antimicrobial agents (tetracycline, penicillin, fucidic adic, erythromycin, clindamycin, cefoxitin). Resistance-related genes ( tetK , tetT , msrA , tetM , tetS , ermC , mecA ) were detected. There was no association between STs and resistance to antimicrobial agents. Isolates with antimicrobial resistance were recovered more often from flocks where hand-milking was practised.
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- 2021
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85. Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population.
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Kyrgiafini MA, Markantoni M, Sarafidou T, Chatziparasidou A, Christoforidis N, and Mamuris Z
- Subjects
- Greece, Humans, Infertility, Male pathology, Male, MicroRNAs genetics, Polymorphism, Single Nucleotide genetics, Spermatogenesis genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Infertility, Male genetics, RNA, Long Noncoding genetics
- Abstract
Background: Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they lie within or near lncRNA regions., Objectives: The aim of this study was to investigate whether polymorphisms on or near lncRNAs affect interactions with miRNAs and can cause male infertility., Materials and Methods: In the present study, a GWAS was conducted, using samples from 159 individuals (83 normozoospermic individuals and 76 patients of known fertility issues). Standard procedures for quality controls and association testing were followed, based on case-control testing., Results: We detected six lncRNAs (LINC02231, LINC00347, LINC02134, NCRNA00157, LINC02493, Lnc-CASK-1) that are associated with male infertility through their interaction with miRNAs. Furthermore, we identified the genes targeted by those miRNAs and highlighted their functions in spermatogenesis and the fertilization process., Discussion and Conclusion: lncRNAs are involved in spermatogenesis through their interaction with miRNAs. Thus, their study is very important, and it may contribute to the understanding of the molecular mechanisms underlying male infertility.
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- 2020
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86. Phylogenetic relationships between genera Dorcadion , Lamia , Morimus , Herophila and some other Lamiinae (Coleoptera: Cerambycidae) based on chromosome and CO1 gene sequence comparison.
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Giannoulis T, Dutrillaux AM, Sarri C, Mamuris Z, and Dutrillaux B
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- Animals, Coleoptera genetics, DNA, Mitochondrial, Female, Karyotype, Male, Sequence Analysis, DNA, Coleoptera classification, Phylogeny
- Abstract
A dual molecular and cytogenetic study was performed with the aim to improve the controversial systematic classification of some species of Lamiinae (Coleoptera: Cerambycidae). The karyotypes of species belonging to genera Morimus, Herophila, Dorcadion, Neodorcadion and Lamia share a number of characters, which differentiate them from other species, belonging to genera Phytoecia, Parmena and Monochamus. The karyotypes of the last three species comprise 20 chromosomes, mostly metacentric or sub-metacentric, as in the presumed Cerambycidae ancestors. The karyotypes of the former species share many characters derived from the Lamiinae ancestors by a number of chromosome fissions and inversions indicating their monophyly. Comparisons of the CO1 gene sequence also show the monophyly of Morimus, Lamia, Herophila and Dorcadion and their distant relationship with others. These convergent results allow us to propose a phylogenetic classification of these genera, which places the monospecific genus Lamia close to Dorcadion, clearly separates Dorcadion and Neodorcadion and places Herophila closer to Morimus than to Dorcadion/Lamia. The genus Morimus is the most derived. CO1 mutations loosely separate the forms M. asper and M. funereus, which have similar karyotypes and behaviour and copulate in captivity. The form M. ganglebaueri may have a funereus X asper hybrid origin.
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- 2020
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87. Curcumin mediates attenuation of pro-inflammatory interferon γ and interleukin 17 cytokine responses in psoriatic disease, strengthening its role as a dietary immunosuppressant.
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Skyvalidas DΝ, Mavropoulos A, Tsiogkas S, Dardiotis E, Liaskos C, Mamuris Z, Roussaki-Schulze A, Sakkas LI, Zafiriou E, and Bogdanos DP
- Subjects
- Adult, Aged, Anti-Inflammatory Agents pharmacology, CD4-Positive T-Lymphocytes drug effects, CD4-Positive T-Lymphocytes metabolism, CD8-Positive T-Lymphocytes drug effects, CD8-Positive T-Lymphocytes metabolism, Diet, Female, Humans, Killer Cells, Natural drug effects, Killer Cells, Natural metabolism, Male, Middle Aged, Psoriasis drug therapy, STAT3 Transcription Factor metabolism, Curcumin pharmacology, Immunosuppressive Agents pharmacology, Inflammation immunology, Interferon-gamma biosynthesis, Interleukin-17 biosynthesis, Psoriasis immunology
- Abstract
Curcumin exhibits anti-inflammatory properties and has been used for centuries in traditional medicine and as dietary supplement. Data from clinical trials has strengthened the notion that curcumin may exert an anti-inflammatory and immunosuppressive role in patients with psoriatic disease, but its mode of action has remained elusive. We hypothesized that curcumin could inhibit interferon (IFN)-γ and interleukin (IL)-17 production in peripheral blood mononuclear cells from patients with psoriasis and psoriatic arthritis (PsA). To this end, we assessed the in vitro effect of curcumin on IFN-γ production by cluster differentiation (CD)4(+), CD8(+) T cells, natural killer (NK) and NKT cells and on IL-17 production by CD4(+) T cells from 34 patients with psoriatic disease (22 with psoriasis and 12 with PsA); 15 normal subjects were included as healthy controls. We also assessed the effect of curcumin on signal transducer and activator of transcription (STAT)3 activation. Curcumin significantly decreased, in a dose dependent manner, IFNγ-production by CD4(+) and CD8(+) T cells, and NK and NKT cells in patients with psoriatic disease and healthy controls. It also decreased IL-17 production by CD4(+) T cells (Th17). At the molecular level, curcumin increased STAT3 serine 727 phosphorylation intensity and p-STAT3(+) CD4(+) T cells in patients with PsA and psoriasis. In conclusion, curcumin in vitro inhibits pro-inflammatory IFN-γ and IL-17 production in psoriatic disease, and this may strengthen its role as a dietary immunosuppressant in patients with this disease., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
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88. Phylogenetic Analysis of Bird-Virulent West Nile Virus Strain, Greece.
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Valiakos G, Plavos K, Vontas A, Sofia M, Giannakopoulos A, Giannoulis T, Spyrou V, Tsokana CN, Chatzopoulos D, Kantere M, Diamantopoulos V, Theodorou A, Mpellou S, Tsakris A, Mamuris Z, and Billinis C
- Subjects
- Animals, Bird Diseases epidemiology, Birds virology, Disease Outbreaks, Genome, Viral, Genomics methods, Greece epidemiology, Humans, Phylogeny, West Nile virus isolation & purification, Bird Diseases virology, West Nile Fever veterinary, West Nile virus drug effects, West Nile virus genetics
- Abstract
We report the full polyprotein genomic sequence of a West Nile virus strain isolated from Eurasian magpies dying with neurologic signs in Greece. Our findings demonstrate the local genetic evolution of the West Nile virus strain responsible for a human disease outbreak in the country that began in 2010.
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- 2019
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89. Positive selection and precipitation effects on the mitochondrial NADH dehydrogenase subunit 6 gene in brown hares (Lepus europaeus) under a phylogeographic perspective.
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Stefanović M, Djan M, Veličković N, Beuković D, Lavadinović V, Zhelev CD, Demirbaş Y, Paule L, Gedeon CI, Mamuris Z, Posautz A, Beiglböck C, Kübber-Heiss A, and Suchentrunk F
- Subjects
- Alleles, Animals, Genetic Variation, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Genes, Mitochondrial, Hares classification, Hares genetics, NADH Dehydrogenase genetics, Phylogeny, Phylogeography, Selection, Genetic
- Abstract
Previous studies in hares and jackrabbits have indicated that positive selection has shaped the genetic diversity of mitochondrial genes involved in oxidative phosphorylation, which may affect cellular energy production and cause regional adaptation to different environmental (climatic) pressures. In the present study, we sequenced the NADH dehydrogenase subunit 6 (MT-ND6) gene of 267 brown hares (L. europaeus) from Europe and Asia Minor and tested for positive selection and adaptations acting on amino acid sequences (protein variants). Molecular diversity indices and spatial clustering were assessed by DnaSP, Network, and Geneland, while the presence of selection signals was tested by codeml in PAML, and by using the Datamonkey Adaptive Evolution web server. The SPSS software was used to run multinomial regression models to test for possible effects of climate parameters on the currently obtained protein variants. Fifty-eight haplotypes were revealed with a haplotype diversity of 0.817, coding for 17 different protein variants. The MT-ND6 phylogeographic pattern as determined by the nucleotide sequences followed the earlier found model based on the neutrally evolving D-loop sequences, and reflected the earlier found phylogeographic Late Pleistocene scenario. Based on several selection tests, only one codon position consistently proved to be under positive selection. It did occur exclusively in the evolutionarily younger hares from Europe and it gave rise to several protein variants from the southeastern and south-central Balkans. The occurrence of several of those variants was significantly favored under certain precipitation conditions, as proved by our multinomial regression models. Possibly, the great altitudinal variation in the Balkans may have lead to bigger changes in precipitation across that region and this may have imposed an evolutionarily novel selective pressure on the protein variants and could have led to regional adaptation., Competing Interests: The authors have declared that no competing interests exists.
- Published
- 2019
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90. Islands and hybrid zones: combining the knowledge from "Natural Laboratories" to explain phylogeographic patterns of the European brown hare.
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Giannoulis T, Plageras D, Stamatis C, Chatzivagia E, Tsipourlianos A, Birtsas P, Billinis C, Suchentrunk F, and Mamuris Z
- Subjects
- Alleles, Animals, DNA, Mitochondrial genetics, Exons genetics, Gene Frequency genetics, Genetic Variation, Haplotypes, Major Histocompatibility Complex genetics, Microsatellite Repeats genetics, Mitochondria genetics, Phylogeny, Hares genetics, Hybridization, Genetic, Islands, Phylogeography
- Abstract
Background: The aim of the study was to use hybrid populations as well as island populations of the European brown hare (Lepus europaeus) to explore the effect of evolutionary events, such as the post-deglaciation translocations, spontaneous and human-mediated, local adaptation and the genetic drift in the shaping of the phylogeographic patterns of the species. For this purpose, we used molecular markers, both nuclear and mitochondrial, that are indicative for local adaptation as well as neutral markers to elucidate the patterns of population differentiation based on geographic isolation and the clade of origin. To broaden our analysis, we included data from our previous studies concerning mainland populations, to explore the genetic differentiation in the base of the geographic origin (mainland/island) of the populations., Results: Our results suggest that local adaptation shapes the differentiation in both genomes, favoring specific alleles in nuclear genes (e.g. DQA) or haplotypes in mtDNA (e.g. Control Region, CR). mtDNA variation was found to be in a higher level and was able to give a phylogeographic signal for the populations. Furthermore, the degree of variation was influenced not only by the geographic origin, but also by the clade of origin, since specific island populations of Anatolian origin showed a greater degree of variation compared to specific mainland populations of the European clade. Concerning the hybrid population, we confirmed the existence of both clades in the territory and we provided a possible explanation for the lack of introgression between the clades., Conclusion: Our results indicate that the Quaternary's climatic oscillations played a major role in the shaping of the phylogeographic patterns of the species, by isolating populations in the distinct refugia, where they adapted and differentiate in allopatry, leading to genome incompatibilities observed nowadays.
- Published
- 2019
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91. Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis.
- Author
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Daniil Z, Kotsiou OS, Grammatikopoulos A, Peletidou S, Gkika H, Malli F, Antoniou K, Vasarmidi E, Mamuris Z, Gourgoulianis K, and Zifa E
- Subjects
- Adult, Aged, Case-Control Studies, Female, Humans, Male, Middle Aged, Sequence Analysis, DNA, DNA, Mitochondrial genetics, Genes, Mitochondrial, Idiopathic Pulmonary Fibrosis pathology, Mutation, RNA, Transfer genetics, Sarcoidosis pathology
- Abstract
Mitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of 22 mt-tRNA genes and parts of their flanking genes revealed 32 and 45 mutations in 38/40 IPF and 69/85 sarcoidosis patients respectively. 4 novel mutations were identified. 15/32 and 25/45 mutations were exclusively expressed while 12/32 and 17/45 mutations predominantly occurred in IPF and sarcoidosis group respectively, compared to healthy controls. Novel mutation combinations were solely expressed in disease. Hence, a mitochondrial-mediated pathogenic pathway seems to underlie both entities., (Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.)
- Published
- 2018
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92. Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease.
- Author
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Sarri CA, Papadopoulos GE, Papa A, Tsakris A, Pervanidou D, Baka A, Politis C, Billinis C, Hadjichristodoulou C, and Mamuris Z
- Subjects
- Amino Acid Motifs, Amino Acid Sequence, Binding Sites, Cohort Studies, Exons, Genetic Association Studies, HLA-DP alpha-Chains metabolism, HLA-DQ alpha-Chains metabolism, HLA-DRB1 Chains metabolism, Humans, Hydrogen Bonding, Models, Molecular, Severity of Illness Index, West Nile Fever metabolism, Disease Resistance genetics, Genetic Predisposition to Disease, HLA-DP alpha-Chains genetics, HLA-DQ alpha-Chains genetics, HLA-DRB1 Chains genetics, West Nile Fever genetics
- Abstract
The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which antigens anchor and fit. The affinity of this fitting determines the recognition specificity of a given peptide. Here, based on our previous results about the association of MHC class II with the WNV disease, we examined the role of the binding pockets of HLA-DPA1, -DQA1 and-DRB1 in the severe form of the disease. In HLA-DQA1, variants in all pockets 1, 6 and 9 were found to be associated with either protection and/or susceptibility to neuroinvasion caused by WNV. Similarly, pockets 7, 9 and 10 in HLA-DRB1 were associated with severe disease. Protein modeling of these molecules revealed structural and functional differences among alleles with opposite roles concerning the development of the disease. Different amino acids in positions α52 and α66 (HLA-DQA1) significantly influenced the peptide binding while DYWLR/EFA combination (HLA-DRB1) was associated with neuronal damage. Further studies could help us understand the selectivity of pocket variants in order to create suitable peptides for an effective response., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2018
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93. Mitogenomic analysis in European brown hare (Lepus europaeus) proposes genetic and functional differentiation between the distinct lineages.
- Author
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Giannoulis T, Stamatis C, Tsipourlianos A, and Mamuris Z
- Subjects
- Animals, Europe, Genetics, Population, Hares genetics, Middle East, Phylogeny, Phylogeography, Genome, Microbial, Hares classification, High-Throughput Nucleotide Sequencing methods, Sequence Analysis, DNA methods
- Abstract
European brown hare is a small game species spreading across Europe to Asia Minor, with important economic traits. Population genetics studies using mitochondrial DNA markers have revealed the existence of two major phylogeographic lineages, the European and the Anatolian. European lineage is further divided in the European type halpogroup and south-eastern European type halpogroup, while Anatolian consists only by the Anatolian/Middle Eastern type halpogroup. All three haplogroups show a discrete geographical distribution, with an overlapping zone forming in North-East Greece and Bulgaria, forming a contact zone. Despite the existence of a contact zone, European haplotype was never detected in Anatolia and vice versa, proposing the presence of genetic barriers responsible for this phenomenon. In this study, we analyzed the whole mitochondrial genomes of specimens originating from both lineages, aiming to detect the genetic and functional differentiation of the oxidative phosphorylation complexes that are encoded by mtDNA that could lead gradually to the reproductive isolation of the lineages.
- Published
- 2018
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94. The In Vitro Impact of the Herbicide Roundup on Human Sperm Motility and Sperm Mitochondria.
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Anifandis G, Amiridis G, Dafopoulos K, Daponte A, Dovolou E, Gavriil E, Gorgogietas V, Kachpani E, Mamuris Z, Messini CI, Vassiou K, and Psarra AG
- Abstract
Toxicants, such as herbicides, have been hypothesized to affect sperm parameters. The most common method of exposure to herbicides is through spraying or diet. The aim of the present study was to investigate the effect of direct exposure of sperm to 1 mg/L of the herbicide Roundup on sperm motility and mitochondrial integrity. Sperm samples from 66 healthy men who were seeking semen analysis were investigated after written informed consent was taken. Semen analysis was performed according to the World Health Organization guidelines (WHO, 2010). Mitochondrial integrity was assessed through mitochondrial staining using a mitochondria-specific dye, which is exclusively incorporated into functionally active mitochondria. A quantity of 1 mg/L of Roundup was found to exert a deleterious effect on sperm's progressive motility, after 1 h of incubation (mean difference between treated and control samples = 11.2%) in comparison with the effect after three hours of incubation (mean difference = 6.33%, p < 0.05), while the relative incorporation of the mitochondrial dye in mitochondria of the mid-piece region of Roundup-treated spermatozoa was significantly reduced compared to relative controls at the first hour of incubation, indicating mitochondrial dysfunction by Roundup. Our results indicate that the direct exposure of semen samples to the active constituent of the herbicide Roundup at the relatively low concentration of 1 mg/L has adverse effects on sperm motility, and this may be related to the observed reduction in mitochondrial staining., Competing Interests: The authors declare no conflict of interest.
- Published
- 2017
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95. Association analysis of FTO gene polymorphisms with obesity in Greek adults.
- Author
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Goutzelas Y, Kotsa K, Vasilopoulos Y, Tsekmekidou X, Stamatis C, Yovos JG, Sarafidou T, and Mamuris Z
- Subjects
- Aged, Case-Control Studies, Diabetes Mellitus, Type 2 complications, Female, Greece epidemiology, Humans, Male, Obesity epidemiology, Overweight epidemiology, Alpha-Ketoglutarate-Dependent Dioxygenase FTO genetics, Obesity genetics, Overweight genetics, Polymorphism, Single Nucleotide
- Abstract
Nowadays, obesity is the greatest scourge worldwide, particularly for the developed countries and is a huge burden for the public health. Over the past decade, GWAS have revealed a number of genes associated with obesity. The fat mass and obesity associated (FTO) gene was the first one associated with obesity in a significant number of populations and recent meta-analysis studies confirm this association. FTO is a N-methyladenosine demethylase and in addition to the genetic association, its biological role in the regulation of body weight has been documented. Due to lack of replication regarding FTO association with obesity in the Greek adult population, we analyzed three SNPs, i.e. rs9939609, rs9930506 and rs3751812 in a cohort of 203 adults, comprising of 95 obese, 58 overweight and 50 control individuals. Analysis has shown a significant association for FTO (rs9930506; A/G) 'G' allele with obesity and a difference by 3.2 BMI units between the two homozygotes (AA versus GG). This association, which was detected for the first time in this population, suggests that FTO rs9930506 is a predisposition marker to obesity in the Greek adults, but the results should be taken cautiously due to the limitation of the relatively small sample size of the subjects., (Copyright © 2017 Elsevier B.V. All rights reserved.)
- Published
- 2017
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96. Netherton Syndrome: A Genotype-Phenotype Review.
- Author
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Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, Gidarokosta P, Sotiriadis D, Sarafidou T, and Mamuris Z
- Subjects
- Alleles, Humans, Mutation, Proteinase Inhibitory Proteins, Secretory genetics, Serine Peptidase Inhibitor Kazal-Type 5, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Netherton Syndrome diagnosis, Netherton Syndrome genetics, Phenotype
- Abstract
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families. Genotypes with mutations located more upstream in LEKTI correlate with more severe phenotypes compared with similar mutations located towards the 3' region. Furthermore, splicing mutations and post-transcriptional mechanism of nonsense-mediated mRNA decay affect LEKTI expression in variable ways. Genotype-phenotype correlations form the basis of prenatal diagnosis in families with a history of Netherton syndrome and when consanguinity is implied.
- Published
- 2017
- Full Text
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97. Genetic Contribution of MHC Class II Genes in Susceptibility to West Nile Virus Infection.
- Author
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Sarri CA, Markantoni M, Stamatis C, Papa A, Tsakris A, Pervanidou D, Baka A, Politis C, Billinis C, Hadjichristodoulou C, and Mamuris Z
- Subjects
- Case-Control Studies, Exons genetics, Female, Gene Frequency, Homozygote, Humans, Male, Middle Aged, Polymorphism, Genetic, Genetic Predisposition to Disease genetics, HLA-D Antigens genetics, West Nile Fever genetics, West Nile virus physiology
- Abstract
WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe WNV disease increases among immunosuppressed individuals implying thus the contribution of the MHC locus to the control of WNV infection. In order to investigate a possible association of MHC class II genes, especially HLA-DPA1, HLA-DQA1, HLA-DRB1, we examined 105 WNV patients, including 68 cases with neuroinvasive disease and 37 cases with mild clinical phenotype, collected during the period from 2010 to2013, and 100 control individuals selected form the Greek population. Typing was performed for exon 2 for all three genes. DQA1*01:01 was considered to be "protective" against WNV infection (25.4% vs 40.1%, P = 0.004) while DQA1*01:02 was associated with increased susceptibility (48.0% vs 32.1%, P = 0.003). Protection against neuroinvasion was associated with the presence of DRB1*11:02 (4.99% vs 0.0%, P = 0.018). DRB1*16:02 was also absent from the control cohort (P = 0.016). Three additional population control groups were used in order to validate our results. No statistically significant association with the disease was found for HLA-DPA alleles. The results of the present study provide some evidence that MHC class II is involved in the response to WNV infection, outlining infection "susceptibility" and "CNS-high-risk" candidates. Furthermore, three new alleles were identified while the frequency of all alleles in the study was compared with worldwide data. The characterization of the MHC locus could help to estimate the risk for severe WNV cases in a country., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2016
- Full Text
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98. SNP Identification through Transcriptome Analysis of the European Brown Hare (Lepus europaeus): Cellular Energetics and Mother's Curse.
- Author
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Amoutzias GD, Giannoulis T, Moutou KA, Psarra AM, Stamatis C, Tsipourlianos A, and Mamuris Z
- Subjects
- Animals, Genetic Speciation, Hares classification, Hares metabolism, Mutation, Energy Metabolism, Hares genetics, Polymorphism, Single Nucleotide, Transcriptome
- Abstract
The European brown hare (Lepus europaeus, Pallas 1778) is an important small game species in Europe. Due to its size and position in the food chain, as well as its life history, phenotypic variation and the relatively recent speciation events, brown hare plays an important role in the structure of various ecosystems and has emerged as an important species for population management and evolutionary studies. In order to identify informative SNPs for such studies, heart and liver tissues of three samples from the European lineage and a three-sample pool from the Anatolian lineage were subjected to RNA-Sequencing analysis. This effort resulted in 9496 well-assembled protein-coding sequences with close homology to human. After applying very stringent filtering criteria, 66185 polymorphic sites were identified in 7665 genes/cds and 2050 of those polymorphic sites are potentially capable of distinguishing the European from the Anatolian lineage. From these distinguishing mutations we focused on those in genes that are involved in cellular energy production, namely the glycolysis, Krebs cycle and the OXPHOS machinery. A selected set of SNPs was also validated by Sanger sequencing. By simulating the three European individuals as one pool, no substantial informative-SNP identification was lost, making it a cost-efficient approach. To our knowledge this is the first attempt to correlate the differentiation in both nuclear and mitochondrial genome between the two different lineages of L. europaeus with the observed spatial partitioning of the lineages of the species, proposing a possible mechanism that is maintaining the reproductive isolation of the lineages.
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- 2016
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99. Corrigendum to "VDR TaqI is associated with obesity in the Greek population" [Gene 512/2 (2013) 237-239].
- Author
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Vasilopoulos Y, Sarafidou T, Kotsa K, Papadimitriou M, Goutzelas Y, Stamatis C, Bagiatis V, Tsekmekidou X, Yovos JG, and Mamuris Z
- Published
- 2016
- Full Text
- View/download PDF
100. Transient up- and down-regulation of expression of myosin light chain 2 and myostatin mRNA mark the changes from stratified hyperplasia to muscle fiber hypertrophy in larvae of gilthead sea bream (Sparus aurata L.).
- Author
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Georgiou S, Alami-Durante H, Power DM, Sarropoulou E, Mamuris Z, and Moutou KA
- Subjects
- Animals, Cardiac Myosins metabolism, Cluster Analysis, Hypertrophy, Larva genetics, Larva growth & development, Muscle Development genetics, Myosin Light Chains metabolism, Myostatin metabolism, RNA, Messenger genetics, RNA, Messenger metabolism, Real-Time Polymerase Chain Reaction, Sea Bream growth & development, Statistics, Nonparametric, Cardiac Myosins genetics, Down-Regulation genetics, Muscle Fibers, Skeletal metabolism, Muscle Fibers, Skeletal pathology, Myosin Light Chains genetics, Myostatin genetics, Sea Bream genetics, Up-Regulation genetics
- Abstract
Hyperplasia and hypertrophy are the two mechanisms by which muscle develops and grows. We study these two mechanisms, during the early development of white muscle in Sparus aurata, by means of histology and the expression of structural and regulatory genes. A clear stage of stratified hyperplasia was identified early in the development of gilthead sea bream but ceased by 35 dph when hypertrophy took over. Mosaic recruitment of new white fibers began as soon as 60 dph. The genes mlc2a and mlc2b were expressed at various levels during the main phases of hyperplasia and hypertrophy. The genes myog and mlc2a were significantly up-regulated during the intensive stratified formation of new fibers and their expression was significantly correlated. Expression of mstn1 and igf1 increased at 35 dph, appeared to regulate the hyperplasia-to-hypertrophy transition, and may have stimulated the expression of mlc2a, mlc2b and col1a1 at the onset of mosaic hyperplasia. The up-regulation of mstn1 at transitional phases in muscle development indicates a dual regulatory role of myostatin in fish larval muscle growth.
- Published
- 2016
- Full Text
- View/download PDF
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