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Çağımızın ciddi sorunlardan biri olan alkol bağımlılığı, genetik, çevresel, kültürel, gelişimsel ve nörobiyolojik faktörlerin etkisiyle ortaya çıkmaktadır. Son yıllarda yeme davranışı nörobiyolojisi ile bağımlılık yapan maddelere aşerme davranışının nörobiyolojisinin benzer özelliklere sahip olduğunun keşfedilmesi araştırmacıları, alkol bağımlılığı ile grelin gibi besin alımında önemli olan hormonlar arasındaki ilişkiyi araştırmaya sevk etmiştir. Alkol kullanım bozukluğunda ve alkole aşermede grelin sisteminin önemi mevcut çalışmalar tarafından ortaya konulmasına karşın bu ilişkinin biyolojik mekanizmasının aydınlatılması için daha çok çalışmaya ihtiyaç vardır. Bu nedenle, bu çalışmada, alkol kullanım sorunu olan Türk erkeklerinde, grelin reseptörünü kodlayan GHSR genindeki rs2232165 polimorfizminin alkol kullanım sorunu ile ilişkisi araştırılmıştır. Çalışmaya alkol kullanım bozukluğu tanısı konmuş 72 erkek birey ile herhangi bir madde bağımlılığı olmayan 82 sağlıklı erkek dahil edilmiştir. GHSR rs2232165 gen polimorfizmi, ilk defa bu çalışmada optimize edilen PCR-RFLP yöntemi ile genotiplendirilmiştir. GHSR rs2232165 polimorfizmi için alel frekansları alkol kullanım sorunu olan grupta (n:144); C aleli için 0,99 (n:142), T aleli için 0,01 (n:2) olarak hesaplanmıştır. Karşılaştırma grubunda ise (n:164), C aleli frekansı 0,98 (n:161), T aleli frekansı 0,02 (n:3) olarak belirlenmiştir. İki grup arasında, T alel frekansı açısından istatistiksel olarak anlamlı bir fark bulunmamıştır (p>0,05). Gen polimorfizmleri, çevresel faktörlerden etkilenmediği için Türk erkeklerindeki minör alel frekansını (MAF) belirlemek için iki gruptaki bireyler birleştirilmiş (n=154) ve Türk erkeklerinde GHSR rs2232165 polimorfizminin MAF değeri 0,02 olarak belirlenmiştir. Bu çalışmada, çağımızda alkol kullanım bozukluğu kadar önemli olan obezite etiyolojisinde de rol oynayan GHSR rs2232165 polimorfizminin Türk erkeklerinde alel frekansı ile ilgili ilk veriler toplanmıştır., Alcohol addiction, which is one of the crucial problems of the current era, arises with the effects of genetic, environmental, culturel, developmental and neurobiological factors. In recent years, the discovery that the neurobiology of eating behavior and the neurobiology of craving for addictive substances have similar characteristics has prompted researchers to investigate the relationship between alcohol addiction and hormones important in food intake such as ghrelin. Even though the importance of the ghrelin system in alcohol use disorder and alcohol craving has been stated by existing studies , more studies are needed to enlighten the biological mechanism of this relationship. Therefore, in this study the relationship between rs2232165 polymorphism in GHSR gene encoding ghrelin receptor and alcohol use disorder in Turkish men with alcohol use problem. Seventy-two individuals diagnosed with alcohol use disorder and 82 healthy men without any substance addiction were included in this study. The GHSR rs2232165 gene polymorphism was genotyped by PCR-RFLP which was optimized for the first time in this study. The allele frequency of the GHSR rs2232165 gene polymorphism was determined in the group with alcohol use problem (n:144) as 0,99 (n:142) for C allele and 0,01 (n:2) for T allele. The frequency of the C allele was 0,98 (n:161) and T allele was 0,02 (n:3) in the healthy group. There was no statistically significant difference between two groups in terms of T allele frequency. Since gene polymorphisms are not affected by environmental factors, individuals in two groups were combined (n=154) in order to determine minor allele frequency (MAF) in Turkish males, and the MAF value of GHSR rs2232165 polymorphism in Turkish males was determined as 0,02. In this study, the first data on the allele frequency of GHSR rs2232165 polymorphism, which plays a role in the etiology of obesity, which is as important as alcohol use disorder in the current era, were collected in Turkish males.

Many genetic variants affect disease risk by altering context-dependent gene regulation. Such variants are difficult to study mechanistically using current methods that link genetic variation to steady-state gene expression levels, such as expression quantitative trait loci (eQTLs). To address this challenge, we developed the cistrome-wide association study (CWAS), a framework for identifying genotypic and allele-specific effects on chromatin that are also associated with disease. In prostate cancer, CWAS identified regulatory elements and androgen receptor-binding sites that explained the association at 52 of 98 known prostate cancer risk loci and discovered 17 additional risk loci. CWAS implicated key developmental transcription factors in prostate cancer risk that are overlooked by eQTL-based approaches due to context-dependent gene regulation. We experimentally validated associations and demonstrated the extensibility of CWAS to additional epigenomic datasets and phenotypes, including response to prostate cancer treatment. CWAS is a powerful and biologically interpretable paradigm for studying variants that influence traits by affecting transcriptional regulation. Cistrome-wide association study (CWAS) is an approach for nominating variants that impact traits through effects on chromatin state. CWAS performed on 307 prostate cistromes identifies candidate loci for prostate cancer and androgen-related traits., This work is supported by grants from the PhRMA Foundation and the Kure It Cancer Research Foundation (S.C.B.). The androgen deprivation GWAS was supported in part by the National Cancer Institute of the National Institutes of Health under award numbers U10CA180820, U10CA180794 and UG1CA233180 (C.J.S.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We are grateful to the E3805: CHAARTED investigators; the patients who participated in the trial; the Prostate Cancer Foundation Mazzone Awards; and Sanofi for partial financial support and supplying docetaxel for early use (C.J.S.). In addition, we acknowledge Public Health Service grants CA180794, CA180820, CA23318, CA66636, CA21115, CA49883, CA16116, CA21076, CA27525, CA13650, CA14548, CA35421, CA32102, CA31946, CA04919, CA107868 and CA184734 (C.J.S.). We are grateful for the generous support of Rebecca and Nathan Milikowsky and Debbie and Bob First (S.C.B.).

Recurrent abortion is multifactorial involving clinical and biological risk factors. Evidence addressed the relationship of inherited thrombophilia with repeated pregnancy abortion and other serious pregnancy complications. However, the relation between thrombophilia associated gene mutations and adverse obstetric outcome is controversial and data in the literature are inconsistent. Main Purpose of this research was to exanimate the prevalence of Methylene-Tetrahydrofolate Reductase gene (MTHFR) variations in association with recurrent abortion. A total of 92 samples were screened in the project: 52 women with multiple consecutive abortion and 40 normal controls. DNA of genomic was extracted from whole blood. For evaluate the presence of the both usual A1298C and C677T MTHFR gene variations in the women with recurrent abortion and controls, we employed real time polymerase chain reaction (RT-PCR). There is critical distinction in the pervasiveness of 677T/T genotype among ladies with repetitive premature birth and typical controls (P = 0.001). Consequently, the outcomes show significant difference in MTHFR C677T/A1298C genotype distribution among the healthy and women with recurrent abortion; hence, further examinations on bigger populace and other hereditary changes to more readily comprehend the molecular pathobiology of repeated pregnancy are required.

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/., There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated association between structural variation in a set of 25 ALS genes, and ALS risk and phenotype. As expected, the repeat expansion in the C9orf72 gene was identified as associated with ALS. Two other ALS-associated structural variants were identified: inversion in the VCP gene and insertion in the ERBB4 gene. All three variants were associated both with increased risk of ALS and specific phenotypic patterns of disease expression. More than 70% of people with respiratory onset ALS harboured ERBB4 insertion compared with 25% of the general population, suggesting respiratory onset ALS may be a distinct genetic subtype., This research was funded in whole, or in part, by the Wellcome Trust [Grant number]. For the purpose of open access, the author has applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission. The authors acknowledge use of the research computing facility at King’s College London, Rosalind (https://rosalind.kcl.ac.uk), which is delivered in partnership with the National Institute for Health Research (NIHR) Biomedical Research Centres at South London & Maudsley and Guy’s & St. Thomas’ NHS Foundation Trusts, and part-funded by capital equipment grants from the Maudsley Charity (award 980) and Guy’s & St. Thomas’ Charity (TR130505). The views expressed are those of the author (s) and not necessarily those of the NHS, the NIHR, King’s College London, or the Department of Health and Social Care. National. The authors acknowledge Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The authors acknowledge Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation and Wellcome Trust. A.A.K. is funded by The Motor Neurone Disease Association (MNDA), NIHR Maudsley Biomedical Research Centre and and ALS Association Milton Safenowitz Research Fellowship. This project was funded by the MND Association and the Wellcome Trust. This is an EU Joint Programme-Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organisations under the aegis of JPND - www.jpnd.eu (United Kingdom, Medical Research Council (MR/L501529/1 and MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)). A.A.C. is an NIHR Senior Investigator. C.E.S. and A.A.C. receive salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. The work leading up to this publication was funded by the European Community’s Health Seventh Framework Program (FP7/2007–2013; grant agreement number 259867) and Horizon 2020 Program (H2020-PHC-2014-two-stage; grant agreement number 633413). This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement no. 772376 - EScORIAL. The collaboration project is co-funded by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to stimulate public-private partnerships. Project MinE Belgium was supported by a grant from IWT, the Belgian ALS Liga and a grant from Opening the Future Fund (KU Leuven). PVD holds a senior clinical investigatorship of FWO-Vlaanderen and is supported by E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, the ALS Liga België and the KU Leuven funds “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”. R.L.McL. is supported by Science Foundation Ireland (17/CDA/4737). MinE USA is funded by the US ALS Association. We thank the patients and families from the Emory ALS Clinic participating in this research. Funding was provided by US National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke (NINDS) (R01NS073873, J.E.L.) and the American ALS Association (J.E.L.).

Although genetic material is vertically transferred between generations via sexual or asexual reproduction, similarities in some chromosome and gene parts of unrelated organisms provide important clues for another way of transfer. The mobility of genetic information among different organisms, known as horizontal gene transfer (HGT) has immediate or delayed effects on the recipient host. One of the most notable mechanisms of HGT is natural transformation (NT), a process in which cells take free DNA from the extracellular environment and incorporate it into their chromosomes by homologous recombination. NT is widely conserved in many bacterial species as it can promote to spread of resistance genes. Although it is known that many organisms rely on HGT, there is limited information about how they decide which particular genetic material to horizontally transfer. Here, I have investigated the preference priority among different gene sources presented under certain stress conditions for Bacillus subtilis possessing NT ability. To test this, two DNA specimens (E and C) with different sequence contents of the same length were presented to B. subtilis under different stress environments (BK, BC, BE and BCE). The hypothesis was evaluated according to the analysis of the results of colonial formations on selective plates (pE, pC and pCE). The obtained data presented a strong positive correlation that the bacteria have preference priority during NT depending on a stimulator. The tendency of the bacteria to uptake useful DNA fragments in a specific environment can be suggested. For instance, the majority of colonies grow on pE plates rather than the pC and pCE when the transformation media includes erythromycin (Eryt) as an inducer. Although the data significantly overlaps with the idea claiming that the bacteria have a preference priority to uptake free DNAs during NT, further investigations are needed to support the present data and for better understanding of the phenomenon., Genetik materyal nesiller arasında genellikle eşeyli veya eşeysiz üreme yoluyla dikey olarak aktarılsa da, akraba olmayan organizmaların bazı kromozom ve gen kısımlarındaki büyük benzerlikler, başka bir aktarım yolu olabileceğini gösterir. Farklı organizmalar arasında genetik bilginin hareketliliği olarak bilinen yatay gen transferi (YGT), alıcı konak üzerinde ani veya gecikmeli etkilere sahiptir. YGT'nin en dikkate değer mekanizmalarından biri, hücrelerin hücre dışı ortamdan serbest DNA aldığı ve homolog rekombinasyon yoluyla kromozomlarına dâhil ettiği bir süreç olan doğal transformasyondur (DT). DT, direnç genlerinin yayılmasını teşvik edebildiği için birçok bakteri türünde yaygın olarak korunur. Birçok organizmanın YGT gerçekleştirdiği bilinmesine rağmen, organizmaların yatay olarak aktarılan genetik materyale nasıl karar verdiği hakkındaki bilgi sınırlıdır.Burada, DT yeteneğine sahip Bacillus subtilis'in belirli stres koşulları altında sunulan farklı gen kaynakları arasından seçim önceliğini araştırdım. Bunu test etmek için, aynı uzunlukta fakat farklı dizi içeriğine sahip iki DNA örneği (E ve C), farklı stres ortamları (BK, BC, BE ve BCE) altında B. subtilis'e sunuldu. Hipotez, DT sonrasında seçici plakalar (pE, pC ve pCE) üzerinde oluşan kolonilerin analiz sonuçlarına göre değerlendirildi.Elde edilen veriler, DT sırasında bakterilerin bir uyarıcıya bağlı olarak tercih önceliğine sahip olduğuna dair güçlü bir pozitif korelasyon sunmuştur. Bakterilerin belirli bir ortamda yararlı DNA parçalarını alma eğilimi gösterdiği söylenebilir, örneğin, dönüştürme ortamı bir indükleyici olarak erythromycin (Eryt) içerdiğinde kolonilerin çoğunluğu pC ve pCE yerine pE plakaları üzerinde büyümüştür. Veriler, bakterilerin DT sırasında serbest DNA'ları almak için bir tercih önceliğine sahip olduğu iddiasıyla önemli ölçüde örtüşse de, verileri güçlü bir şekilde desteklemek ve fenomeni doğru bir şekilde anlamak için daha fazla araştırmaya ihtiyaç vardır.

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively acting germline alleles p.Arg180Gly and p.Gly183Arg, which are both situated in the FYVE domain of RBSN. We find that these variants abrogate binding to its cognate substrate phosphatidylinositol 3-phosphate (PI3P) and thus prevent its translocation to early endosomes. Although the endosomal recycling pathway was unaltered, mutant p.Gly183Arg patient fibroblasts show accumulation of cargo tagged for lysosomal degradation. Our results suggest that these variants are separation-of-function alleles, which cause a delay in endosomal maturation without affecting cargo recycling. We conclude that distinct germline mutations in RBSN cause non-overlapping phenotypes with specific and discrete endolysosomal cellular defects., NA

How an organism's sensory system functions is central to how it navigates its environment. The insect olfactory system is a prominent model for investigating how ecological factors impact sensory reception and processing. Notably, work in Lepidoptera led to the discovery of vastly expanded structures, termed macroglomerular complexes (MGCs), within the primary olfactory processing centre. MGCs typically process pheromonal cues, are usually larger in males, and provide classic examples of how variation in the size of neural structures reflects the importance of sensory cues. Though prevalent across moths, MGCs were lost during the origin of butterflies, consistent with evidence that courtship initiation in butterflies is primarily reliant on visual cues, rather than long distance chemical signals. However, an MGC was recently described in a species of ithomiine butterfly, suggesting that this once lost neural adaptation has re-emerged in this tribe. Here, we show that MGC-like morphologies are widely distributed across ithomiines, but vary in both their structure and prevalence of sexual dimorphism. Based on this interspecific variation we suggest that the ithomiine MGC is involved in processing both plant and pheromonal cues, which have similarities in their chemical constitution, and co-evolved with an increased importance of plant derived chemical compounds., NERC IRF; Royal Society Research Grant; Royal Commission for the Great Exhibition Research Fellowship

The world has been encountered to one of the biggest pandemics that causing by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 is placed in the Beta-CoV genus in the Coronaviridae family. N protein is one of the crucial structural proteins of SARS-CoV-2 that binds to the genome thereby generating helical ribonucleoprotein core. It is involved in viral transcription/replication, translation, and viral assembly after entering the host cell through interacting with host proteins. N protein sequences of SARS-CoV-2 and taxonomically related CoVs are examined using bioinformatics tools and approaches including sequence alignment, sequence and phylogenetic analyzes, and predicting of putative N-Glycosylation and phosphorylation positions and also predictions and comparative analyzes are performed on 3D structures of N proteins from SARS-CoV-2 related CoVs through using of some of applied bioinformatics analyzes. Results of mega BLAST search revealed that the most similar N protein sequence to SARS-CoV-2 is Bat-CoV RaTG13 N protein sequence in the taxonomically related CoVs. SARS-CoV-2 is grouped with SARS, pangolin, civet and bat CoVs (RATG13, SL ZC45 and SL ZXC21) in N protein, nucleotide and protein based ML phylogenetic trees. Some of SARS-CoV-2 N proteins were showed divergence from other SARS-CoV-2 N proteins analyzed due to amino acid substitutions detected in SARS-CoV-2 N proteins samples in phylogenetic trees. The highest amino acid substitutions were detected in Richmont/USA (QJA42209.1) and Greece (QIZ16579.1) samples, with 2 and 3 place substitutions, respectively. By domain analyzes, three domains were detected as Corona_nucleocora (Pfam), N terminal CoV RNA-binding domain (HAMAP) and C terminal N protein dimerization domain (HAMAP). Possible N-glycosylation positions of SARS-CoV-2 N protein were predicted at two positions. Assessments of possible serine, threonine and tyrosine phosphorylations were found to be at 100 positions, 34 of them were higher than 80% possibility. 3D structure analysis based on TM scores revealed that although the results of 3D structure analysis were shown consistency with the taxonomy of the CoVs, the 3D structures of SARS-CoV-2 N protein and taxonomically related CoVs were not at the same fold.

In this study, the phylogenetic relationship among Fusarium graminearum Schwabe isolates was established for the first time based on mitochondrial cox3 and rnl gene variations. The genes were amplified from 45 isolates purified from Türkiye and Iran together with 2 Korean strains by polymerase chain reaction. The amplicons were sequenced and nucleotide polymorphisms were detected by alignment. The phylogenetic relationship was constructed by using PAUP 4.0a with the maximum parsimony method. Fragments with 477 bp length, belonging to cox3, were obtained from 46 samples; 1547 bp-amplicons of rnl were produced from 45 samples. Sequence similarities were calculated as 30-100 % and 17-94 % for cox3 and rnl, respectively. Nucleotide variations within the rnl was found higher than within cox3. It was shown that SNPs and in-dels, found in coding regions, cause a codon change and may alter more than one codon by causing frame shift without affect gene functions. Bootstrap values belonging to cox3 and rnl dataset was found ranging from 57 to 84 %, and 54 to 100 %, respectively. Parsimony analysis revealed that Korean isolates were in monophyletic relationship with Turkish and Iranian isolates. It is proposed that the methodology can be applied to other fungal species because the phylogenetic relationships at the intraspecific level are able to establish among Fusarium species based on mitochondrial gene variation., Bu çalışmada, mitokondriyal cox3 ve rnl genlerinin varyasyonlarına dayalı olarak Fusarium graminearum izolatları arasındaki filogenetik ilişki ilk kez ortaya kondu. cox3 ve rnl genleri polimeraz zincir reaksiyonu ile 2 Kore suşu ile Türkiye ve İran'dan saflaştırılan 45 izolattan çoğaltıldı. Amplikonlar dizilendi ve hizalama analizleri ile nükleotid polimorfizmleri tespit edildi. Filogenetik ilişki, maksimum tutumluluk yöntemiyle PAUP 4.0a programı kullanılarak oluşturuldu. 46 örnekten cox3'e ait 477 bp uzunluğunda fragmentler çoğaltılırken; rnl genine ait 1547 bp-amplikon 45 örnekten çoğaltıldı. cox3 ve rnl için dizi benzerlikleri sırasıyla %30-100 ve %17-94 aralığında hesaplandı. rnl gen bölgesinde, cox3’e kıyasla nukleotid varyasyonlarının daha yüksek oranda taşındığı belirlendi. Kodlama bölgelerinde bulunan SNP'lerin ve in-del'lerin gen fonksiyonlarını etkilemeden çerçeve kaymasına neden olduğu ve bu varyasyonların birden fazla kodonu değiştirebildiği belirlendi. Filogenetik analizlerle hesaplanan cox3 ve rnl veri setine ait bootstrap değerleri sırasıyla %57 ile %84 ve %54 ile %100 arasında hesaplandı. Parsimoni analizi, Kore izolatlarının Türk ve İran izolatları ile monofiletik ilişki içinde olduğunu ortaya koydu. Fusarium’da tür içi filogenetik ilişkilerin mitokondriyal gen varyasyonuna dayalı olarak belirlenebilmesi nedeniyle yöntemin diğer mantar türlerine de uygulanabileceği önerilmektedir.

Colchicum calcedonicum Azn, pek çok endemik bitki türünün görüldüğü Türkiye'de yayılış gösteren endemik türlerden biridir. Toprak altında uzun-oval şekilli soğanı ile genellikle 3-4 yapraklıdır. Kallus kültürü kullanarak endemik türlerin in vitro üretimi, bu türlerin korunmasında umut verici bir çalışma haline gelmiştir. Bu çalışmanın amacı, in vitro C. chalcedonicum üretimi için verimli kallus protokolünün oluşturulabilmesidir. Explantların sterilizasyonunda, 20 dk %0.25 (w/v) cıva klorür (HgCl2) kullanılmıştır. Cıva klorüre ilaveten, yüzey sterilizasyonunda 30 dk boyunca Tween 80, %6,5 NaCl ile birlikte kullanılmıştır. Bu çalışmada, 19 farklı besiyeri kullanılmış olup primer kallus oluşumu 2,4-D (2 mg L-1), 2IP (0,5 mg L-1), %3 sükroz ve %0,05 aktif karbon içeren Murashige & Skoog bazal besiyerinde elde edilmiştir. Çalışmamız, aktif karbon kullanımının primer kallus oluşumunda etkili olduğunu göstermiştir. Bu çalışma, C. chalcedonicum’un primer kallus oluşumu için ilk rapordur. Bununla birlikte, çalışmamız endemik tür olan C. chalcedonicum'un in vitro korunması ve kallus oluşum protokolünün geliştirilmesinde öncü bir çalışmadır., Colchicum calcedonicum Azn is one of the endemic species distributed in Turkey, where many endemic plant species occur. It has long-oval shaped corm under the soil, and usually 3-4 leaves on it. In vitro production of endemic species using callus culture has become promising study for conservation. The aim of this study is to generate an efficient callus protocol for in vitro production of C. chalcedonicum. To sterilize the explants, 0.25% (w/v) mercuric chloride (HgCl2) was used for 20 min. In addition to mercuric chloride, surface sterilization was conducted by using 6.5% NaCl with Tween 80 for 30 min. We used 19 different mediums and the primary callus formation was obtained in Murashige & Skoog’s basal medium (MS) supplemented with 2,4-D (2 mg L-1), 2IP (0.5 mg L-1), 3% sucrose and 0.05% active carbon. Our study demonstrated the active carbon usage was effective for the primary callus formation. This study is the first report for primary callus formation of C. chalcedonicum. However, our work is a pioneering study to improve callus formation protocol system for in vitro conservation of endemic species C. chalcedonicum.

Konjenital adrenal hiperplazi (KAH), adrenal steroid yapımının bozukluğu ile oluşan ve otozomal resesif kalıtım gösteren ailesel hastalıklar grubundandır. Adrenal kortekste kolesterolden kortizol sentezini sağlayan beş enzimden herhangi birinin eksikliği sonucu oluşmaktadır. KAH’ın karakteristik özelliği, kuşkulu genital yapı ve bozulmuş cinsel gelişimdir. KAH’ın en sık nedeni ise 21-hidroksilaz enzim eksikliğidir. 21-hidroksilaz enzim eksikliğine bağlı KAH’ın, ‘klasik’ ve ‘klasik olmayan’ olarak 2 tipi vardır. Klinik tablodaki farklılıklar 21-hidroksilaz genindeki mutasyonların oluşturduğu yapısal ve fonksiyonel değişikliklere bağlıdır.İki steroid 21-hidroksilaz geni (CYP21A2 aktif gen, CYP21P psödogen) 6. kromozomun kısa kolu üzerinde bulunur. Aktif genin defektine neden olan mutasyonlar aktif gen ile psödogenin birbirine çok yakın ve oldukça homolog olmalarından kaynaklanmaktadır. DNA dizisinin intergenik rekombinasyonları sonucunda delesyonlar, duplikasyonlar, gen konversiyonları ve nokta mutasyonlar meydana gelir. CYP21A2’nin psödogeninin bulunması nedeniyle 21-hidroksilaz enzim eksikliğine bağlı gelişen KAH’a sadece CYP21A2 genine yönelik dizi analizi çalışmalarıyla doğru tanı konulmasında çoğu kez aksaklıklar yaşanmaktadır. Çalışmamızda; Cerrahpaşa Tıp Fakültesi Tıbbi Genetik Anabilim Dalı’na CYP21A2 geni mutasyon analizi için yönlendirilen hastalar klinik ve laboratuvar bulgularıyla tekrar değerlendirilmeye alındı ve dizi analizinde saptanması mümkün olmayan kopya sayısı değişikliklerinin belirlenmesi hedeflendi. Böylece; hastaların tanısını kesinleştirerek, tedavilerinin gecikmeden yapılmasının sağlanması ile birlikte CYP21A2 genine yönelik yapılan mutasyon analizlerinde MLPA yönteminin kolay, nispeten ucuz, hızlı ve güvenilir bir yöntem olduğunun gösterilmesi amaçlanmıştır.Çalışmaya dahil ettiğimiz 28 hastada uygulamış olduğumuz MLPA yöntemiyle, 1 hastada genin büyük kısmını kapsayan homozigot, 2 hastada heterozigot delesyon ve 1 hastada ise heterozigot duplikasyon saptanmıştır., Congenital adrenal hyperplasia (CAH) belongs to the group of familial diseases with autosomal recessive inheritance, which is caused by a disorder of adrenal steroid production. It is caused by the deficiency of any of the five enzymes that provide cortisol synthesis from cholesterol in the adrenal cortex. Characteristic of CAH is ambiguous genital structure and impaired sexual development. The most common cause of CAH is 21-hydroxylase enzyme deficiency. The CAH, which is caused by 21-hydroxylase deficiency, has 2 types as 'classic' and 'non-classical'. The differences in the clinical picture depend on the structural and functional changes caused by mutations in the 21-hydroxylase gene.The two steroid 21-hydroxylase genes (CYP21A2 active gene, CYP21P pseudogene) are located on the short arm of chromosome 6. The mutations that cause defect of the active gene are due to the fact that active and pseudogene are very close and quite homologous. Deletions, duplications, gene conversions and point mutations occur as a result of intergenic recombination of the DNA sequence. Due to the presence of CYP21A2 pseudogene; there are often problems in diagnosing CAH, which develops due to 21-hydroxylase deficiency only with sequence analysis studies for the CYP21A2 gene.In this study; patients who were directed to Department of Medical Genetics in Cerrahpasa Medical Faculty for CYP21A2 gene mutation analysis were reevaluated with clinical and laboratory findings. It was aimed to determine the number of copy changes that could not be detected in the sequence analysis. Therefore; ensuring the treatment of the patients without delay in their diagnosis; In addition, it is aimed to demonstrate that MLPA method is an easy, relatively cheap, fast and reliable method in mutation analysis for the CYP21A2 gene.With the MLPA method, 28 patients were included in the study, homozygous deletion covering the majority of the gene in 1 patient, heterozygous deletion in 2 patients and heterozygous duplication in 1 patient were detected.

As a result of the rapid increase in the world population, the need for wheat, which is one of the main nutrition in the human diet, is also rapidly increases. However, due to yield losses caused by abiotic stress factors such as drought, wheat production is not sufficient. Therefore, genetic characterization studies performed on wheat genotypes in terms of drought tolerance are important. In this study, genetic characterization of wheat genotypes regardingdrought tolerance was carried out by using molecular markers associated with drought-tolerance genes. For this purpose, 14 polymorphic markers were used to be able to distinguish between the control groups. Genetic characterization of 27 bread wheat genotypes by using eight ISSR markers revealed a polymorphism rate of 75.8%, and the mean PIC was calculated as 0.55. Based on the results of the genetic characterization performed with six SSR markers, the mean PIC value was 0.77, the mean He was 0.79, and the mean allele number was 6.7. In this study, the characterization of drought-tolerant and sensitive genotypes was carried out, and the potentials of genotypes for breeding studies were revealed. This study also indicates that used SSRs and ISSRs markers are useful in marker-assisted breeding about drought tolerance.

Tossed about by the tides of history, the inheritance of acquired characteristics has found a safe harbor at last in the rapidly expanding field of epigenetics. The slow pace of genetic variation and high opportunity cost associated with maintaining a diverse genetic pool are well-matched by the flexibility of epigenetic traits, which can enable low-cost exploration of phenotypic space and reactive tuning to environmental pressures. Aiding in the generation of a phenotypically plastic population, epigenetic mechanisms often provide a hotbed of innovation for countering environmental pressures, while the potential for genetic fixation can lead to strong epigenetic-genetic evolutionary synergy. At the level of cells and cellular populations, we begin this review by exploring the breadth of mechanisms for the storage and intergenerational transmission of epigenetic information, followed by a brief review of common and exotic epigenetically regulated phenotypes. We conclude by offering an in-depth coverage of recent papers centered around two critical issues: the evolvability of epigenetic traits through Baldwinian adaptive phenotypic plasticity and the potential for synergy between epigenetic and genetic evolution., This publication was supported by the National Institute of General Medical Sciences of the National Institutes of Health (NIH) under Award Number R01GM127870 (to M.A.). The content is solely the responsibility of the authors and does not necessarily represent the offcial views of the NIH. E.S. was funded by an NIH training grant (T32 GM 067543).

We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single recurrent missense variant (c.4A?>?G, p.Ser2Gly) in SHOC2, which encodes a leucine-rich repeat-containing protein facilitating signal flow through the RAS-mitogen-associated protein kinase (MAPK) pathway. We also documented that the pathogenic p.Ser2Gly substitution causes upregulation of MAPK signaling and constitutive targeting of SHOC2 to the plasma membrane due to the introduction of an N-myristoylation recognition motif. The almost invariant occurrence of the pathogenic c.4A?>?G missense change in SHOC2 is mirrored by a relatively homogeneous clinical phenotype of Mazzanti syndrome. Here, we provide new data on the clinical spectrum and molecular diversity of this disorder and functionally characterize new pathogenic variants. The clinical phenotype of six unrelated individuals carrying novel disease-causing SHOC2 variants is delineated, and public and newly collected clinical data are utilized to profile the disorder. In silico, in vitro and in vivo characterization of the newly identified variants provides evidence that the consequences of these missense changes on SHOC2 functional behavior differ from what had been observed for the canonical p.Ser2Gly change but converge toward an enhanced activation of the RAS-MAPK pathway. Our findings expand the molecular spectrum of pathogenic SHOC2 variants, provide a more accurate picture of the phenotypic expression associated with variants in this gene and definitively establish a gain-of-function behavior as the mechanism of disease., European Union (EU); Horizon 2020; European Joint Program on Rare Diseases (EJP-RD); Associazione Italiana per la Ricerca sul Cancro (AIRC); Italian Ministry of Health (Ricerca Corrente 2022); Italian Ministry of Research (FOE 2019); German Federal Ministry of Education and Research; BMBF (German Network for RASopathy Research ""GeNeRARe""); European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA)

The influence of various carbon sources as bioflocs on relative immunological gene expression, haematology, growth, and microbial community in Clarias gariepinus juvenile culture is investigated in this study. The bioflocs groups (four) were created by daily supplementation with four carbon sources (cassava peel, tapioca, wheat offal, and brewery waste) with a carbon-nitrogen ratio of 20 and the control without carbon addition. The juvenile Clarias gariepinus (8.16 ± 0.2 g) was stocked into each bioflocs system and reared for 72 days. The results revealed that the water quality parameter and survival rate differed significantly across the treatments. The microbial community revealed that there were differences in bacterial intensity and diversity among the various culture systems. The haematological parameters between the treatments showed a significant difference p

Cowpea exhibits significantly inconsistent performances across different environments, and hence demands performance evaluation of genotypes prior release or cultivation in every breeding program. Hence, the goal of this study was to compare 16 cowpea genotypes over six planting seasons (2014-2019) in Akungba-Akoko, Nigeria for their stability and adaptation through Finlay and Wilkinson (FW), Additive Main Effects and Multiplicative Interaction (AMMI) and Genotype and Genotype × Environment (GGE) analyses. ANOVA revealed high significant genotype (15.33%), environment (14.71%) and GEI (64.34%) effects for seed yield among genotypes. All analyses were able to pinpoint stable high-yielding genotypes including G14 and G9. Genotypes G14, G3, G4, G5, G6 and G9 were high yielding and stable according to FW; AMMI showed G10, G9, G16, G14 and G13 stable high-yielding while GGE showed G14, G16, G9 and G13 as stable high-yielding. As analyses explored the variation in the data due to GEI, they also complemented one another, in that where one erroneously included a wrong genotype as stable; the other excluded such genotype, making recommendation possible on the basis of consistency to gain reliability.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance

A bacterial strain from petroleum-contaminated soil in south-eastern Turkey was isolated and characterized to determine the potential of alkane hydrocarbon biodegradation. Phenotypic characteristics and the sequence analysis of the 16S rRNA gene revealed that the strain D9 is a member of the Delfitia genus and most similar to Delftia tsuruhatensis (100%). The optimum pH and temperature values for the growth of D. tsuruhatensis strain D9 were found to be 9.0-10.0 and 35°C, respectively. The strain was found to grow in some single, medium and long-chain hydrocarbons such as decane, hexadecane, and squalene, tested by short-time incubation in basal medium (BM) in the presence of 1% hydrocarbon concentrations under optimum conditions. After incubation for 3 days, 65% of the single hydrocarbon hexadecane was degraded by the D. tsuruhatensis strain D9, revealed by GC-MS analysis. The biodegradation of petroleum hydrocarbons by D. tsuruhatensis strain D9 isolated and characterized in the present study shows that it can be a good candidate in the bioremediation process.

In this study, calcium concentration, calcium chelators, and calcium channel blockers that could be effective in triggering the heat shock response in Chlamydomonas reinhardtii were investigated. For this purpose, continuously expressed and heat-inducible transformant C. reinhardtii strains were used, and heterologously expressed arylsulfatase activities were detected. After a short time of heat shock at 40°C, cultures were shifted to 23°C and different concentrations of calcium (0-1 M CaCl2), EGTA (0-50 mM), BAPTA (0-2 mM), lanthanum (0-300 µM), gadolinium (0-350 µM), and verapamil (0-100 µM) applications were performed. To compare the arylsulfatase activity results at the transcript level, HSP70A expression level was analyzed. Arylsulfatase activity was increased with the increase of the calcium concentration, in the presence of calcium chelators, blockers, and parallel results were obtained in HSP70A expression level. These findings support that both extracellular and intracellular calcium influx is effective in the heat shock response of C. reinhardtii.

Fusarium avenaceum (Fr.) Sacc. is an important phytopathogen. Fight against F. avenaceum includes primarily fungicide usage. However, novel strategies are needed in a struggle with F. avenaceum. In this study, terpinolene was used against F. avenaceum as an antimicrobial agent, and the harmlessness of terpinolene was tested on two contrast barley genotypes, Hordeum vulgare L. cv. Cervoise and H. vulgare L. cv. Premium. Firstly, minimum inhibitory concentration (MIC) and half inhibitory concentration (IC50) were detected as 6 and 3 µg µL-1. Quantitative real-time polymerase chain reaction (qRT-PCR) assay was informative about the effects of terpinolene on enniatin and zearalenone biosynthesis in F. avenaceum. Terpinolene leads to the potential decreased enniatin and zearalenone biosynthesis in F. avenaceum. However, no significant differences were recorded for gene expression of aurofusariun biosynthesis. In barley, electroconductivity (EC), catalase (CAT) activity, coupled restriction enzyme digestion-random amplification (CRED-RA), and qRT-PCR assays were tested. No significant ion leakage differences (p>0.05) were detected. Similarly, CAT activity and water loss rate (WLR) values in barley sets were not affected (p>0.05) by terpinolene treatment in majority of experiment sets. Relatively low levels of genomic template instability (75-85%) and epigenetics changes (11-20.6%) were recorded in barley due to terpinolene treatment. WRKY6, WRKY24, and WRKY41 expressions were not significantly changed. The findings showed that terpinolene could be accepted as a potential plant protective agent against phytopathogenic fungi., Fusarium avenaceum (Fr.) Sacc. önemli bir bitki patojenidir. Fusarium avenaceum ile mücadele temelde fungisit kullanımını içerir. Ancak yeni stratejilere ihtiyaç duyulmaktadır. Mevcut çalışmada iki zıt arpa genotipi olan Hordeum vulgare L. cv. Cervoise and H. vulgare L. cv. Premium genotiplerinde terpinolenin zararsız etkileri ve F. avenaceum’a karşı antimikrobiyal etkileri araştırıldı. İlk olarak minimum inhibisyon konsantrasyonları (MİK) ve üremeyi baskılayan yarı konsantrasyon (IC50) değerleri 6 and 3 µg µL-1 olarak belirlendi. Gerçek zamanlı polimeraz zincir reaksiyonu (kPZR) F. avenaceum’da zearalenone ve enniatin üretimi üzerinde terpinolenin etkisinin belirlenmesinde bilgi verici oldu. Terpinolene F. avenaceum’da enniatin ve zearalenone üretiminde potansiyel baskılamaya sebep oldu. Buna karşın aurofusariun biyosentez gen analtımında anlamlı farklılık görülmemiştir. Arpada elektrokonduktivite (EK), katalaz (KAT) aktivitesi, CRED-RA analizi ve kPZR analizleri test edildi. EK değerlerinde bilimsel olarak anlamlı (p>0,05) farklılık gözlemlenmedi. Benzer şekilde deney setlerinin çoğunda katalaz aktivitesi ve su kaybetme oranları (SKO) terpinolene uygulamasından etkilenmedi (p>0,05). Arpada terpinolene uygulamasına bağlı olarak göreceli olarak düşük genomik instabilite (%75-85) ve epigenetik değişimler (%11-20,6) kaydedildi. WRKY6, WRKY24 ve WRKY41 gen anlatımları anlamlı farklılık göstermedi. Bulgular terpinolenin fitopatojenik mantarlara karşı potansiyel bir bitki koruma ajanı olarak kabul edilebileceğini göstermektedir.

By the increase of world population, arable lands are decreasing and related to this, food security concerns are increasing. In order to avoid these concerns, it is necessary to use modern biotechnological tools and molecular breeding methods. CRISPR/Cas9 is a genome editing method that creates double-stranded breaks using the site-specific nuclease enzyme. This method is used for providing disease resistance in farm animals, increasing yield characteristics, obtaining starter cultures resistant to bacteriophages, eliminating cancer types and hereditary diseases in medicine, growing more resistant and high yielding plants against drought and pests in agriculture. In the field, it is used for the cultivation of high-yielding plants that are more resistant to drought and pests. It is thought that CRISPR/Cas9 technology will be useful when it is carried out within the framework of legal regulations and under the control of scientific research. However, ethical debates continue regarding the use of the method and the fact that technological applications are not easily accepted by the society., Artan dünya nüfusu ile birlikte, tarıma elverişli araziler azalmakta ve buna bağlı olarak gıda güvenliğine ilişkin endişeler artmaktadır. Bu endişelerin önüne geçmek için moleküler ıslah yöntemlerinin yanı sıra modern biyoteknolojik araçlarında kullanılması gerekmektedir. CRISPR/Cas9, bölgeye özgü nükleaz enzimini kullanarak çift sarmallı kırılmalar oluşturan genom düzenleme yöntemidir. Çiftlik hayvanlarında hastalıklara karşı direnç oluşturulması, verim özelliklerinin yükseltilmesi, bakteriyofajlara karşı dirençli başlangıç kültürlerinin (starter kültürler) elde edilmesi, tıp alanında kanser türleri ve kalıtsal hastalıkların elemine edilmesi, tarım alanında kuraklık ve zararlılara karşı daha dirençli ve yüksek verimli bitkilerin yetiştirilmesi için kullanılmaktadır. CRISPR/Cas9 teknolojisinin yasal mevzuat çerçevesinde ve bilimsel araştırmalar kontrolünde gerçekleştirildiğinde yararlı olacağı düşünülmektedir. Ancak teknolojik uygulamaların toplum üzerinde kolay kabul görmemesi ve yöntemin kullanımı konusunda etik tartışmalar devam etmektedir.

Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in FANCA were found responsible in 75%, FANCC, FANCE, FANCJ/BRIP1, FANCL in 5%, and FANCD1/BRCA2 and FANCN/PALB2 in 2.5% of the subjects. Altogether, 25 different variants in 7 different FA genes, including 10 novel mutations in FANCA, FANCN/PALB2, FANCE, and FANCJ/BRIP1, were disclosed. Two compound heterozygous germline cases were mosaic for one allele, revealing that the incidence of reverse mutations may not be uncommon in FA. Another case with de novo FANCD1/BRCA2 and paternally inherited FANCN/PALB2 pathogenic alleles at first glance suggested a digenic inheritance, because the presence of a second pathogenic variant in the unexamined regions of FANCD1/BRCA2 and FANCN/PALB2 were exluded by sequencing and deletion/duplication analysis. A better understanding of the complexity of the FA genotype may provide further access to undiscovered ICL components and apparently dispensable cellular pathways where FA proteins may play important roles., NA

The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-offunction TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113* and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113* stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans., European Union (European Union); Horizon 2020; European Union's Seventh Framework Programme; National Medical Research Council Open Fund-Young Individual Research Grant (OF-YIRG); Kom op tegen Kanker (Stand up to Cancer), the Flemish cancer society; Strategic Positioning Fund on Genetic Orphan Diseases from A*STAR, Singapore

A new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) associated with human to human transmission and extreme human sickness has been as of late announced from the city of Wuhan in China. This epidemic had spread to 210 countries and territories around the world with 6,049,380 confirmed cases, including 367,230 deaths, as of May 30, 2020, so the World Health Organization declared it as a Public Health Emergency of worldwide. It can cause serious respiratory diseases along with enteric, heart and neurological diseases, especially in immunocompromised patients. The reported symptoms include fever, coughing, sore throat, fatigue, headache, diarrhea, hemoptysis. trouble breathing, blue lips or face, persistent pain or pressure in the chest, confusion and excessive drowsiness. Preventive measures such as masks, frequent hand washing, staying home when sick, avoid public contact, and quarantines are being recommended for reducing the transmission. To date, no specific antiviral treatment is proven yet. There is a need to increase the knowledge of health care professionals regarding severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, control, and management. For this, they must know about the prevalence, clinical manifestation, modes of transfer, control measures and management, etc. There must be a special task force that considers raising public awareness in the regions where the virus attacks. They must guide the people with the signs and symptoms of the disease.

Obezite, hem mortalite ve morbidite oranları hem de kardiyovasküler hastalıklar, diyabet ve kanser gibi ilişkili olduğu hastalıklar nedeniyle en popüler konulardan biridir. Kanser gelişimi ve ilerlemesi, tümör mikroçevresinde bulunan işlevsiz adipositler gibi birçok faktörle ilgilidir. Bununla birlikte, obezite-kanser bağlantısının altında yatan moleküler mekanizmalar tam olarak anlaşılamamıştır. Mevcut çalışmada, farklılaştırılmış preadipositlerden elde edilen şartlandırılmış ortam (CM), prostat kanseri hücre hattı ile indirekt bir ortak kültür sistemi kurmak için kullanıldı. İlk olarak, 3T3F44-2A'nın adipogenezi, oil red o boyaması ve spesifik genlerin ifadeleri ile kontrol edildi. Farklılaştırılmış 3T3F44-2A'nın CM’si, prostat kanseri hücrelerine (PC3) uygulandı. Hücre canlılığı, migrasyon kapasitesi ve hücrelerin ilgili gen ekspresyon seviyeleri değerlendirildi. %20 CM, 48 saat sonra hücre canlılığını arttırdı. Uygulama ayrıca, proliferasyon, migrasyon ve epithelial-mesenchymal aktarım (EMT) ile ilgili gen ekspresyonlarını indükledi. Sonuçlar, tümör mikroçevresinde bulunan adipositlerin rollerini ortaya koydu ve bu, yeni terapötik gelişmelere ışık tutabilir. Obezite-kanser bağlantısını değerlendirmek için yeni bir bakış açısı olarak, model deneyimiz diğer kanser türleri için de faydalı olabilir., Obesity is a popular topic due to both its mortality and morbidity rates and related diseases such as cardiovascular diseases, diabetes and cancer. Cancer development and progression relate to many factors one of which is dysfunctional adipocytes found in the tumor microenvironment. However, underlying molecular mechanisms of the obesity-cancer link have not been fully understood. In the current study, condition media (CM) obtained from differentiated pre-adipocytes was used to set an indirect co-culture system with the prostate cancer cell line. Firstly, adipogenesis of 3T3F44-2A was checked by oil red o staining and expressions of specific genes. CM of differentiated 3T3F44-2A was applied on prostate cancer cells (PC3). Cell viability, migration capacity and related gene expression levels of the cells were evaluated. 20% CM increased cell viability after 48h. The administration also induced proliferation, migration and epithelial-mesenchymal transition (EMT)-related gene expressions. The results presented the roles of adipocytes found in the tumor microenvironment and this could allow new therapeutic developments. As a new perspective to evaluate the obesity-cancer link, our model experiment may also be useful for other cancer types.

Background: the histone H3 lysine 79 (H3K79) methyltransferase DOT1L is a key chromatin-based barrier to somatic cell reprogramming. However, the mechanisms by which DOT1L safeguards cell identity and somatic-specific transcriptional programs remain unknown. Results: we employed a proteomic approach using proximity-based labeling to identify DOT1L-interacting proteins and investigated their effects on reprogramming. Among DOT1L interactors, suppression of AF10 (MLLT10) via RNA interference or CRISPR/Cas9, significantly increases reprogramming efficiency. In somatic cells and induced pluripotent stem cells (iPSCs) higher order H3K79 methylation is dependent on AF10 expression. In AF10 knock-out cells, re-expression wild-type AF10, but not a DOT1L binding-impaired mutant, rescues overall H3K79 methylation and reduces reprogramming efficiency. Transcriptomic analyses during reprogramming show that AF10 suppression results in downregulation of fibroblast-specific genes and accelerates the activation of pluripotency-associated genes. Conclusions: our findings establish AF10 as a novel barrier to reprogramming by regulating H3K79 methylation and thereby sheds light on the mechanism by which cell identity is maintained in somatic cells., Scientific and Technological Research Council of Turkey (TÜBİTAK) Project; European Union (EU); Horizon 2020; Seventh Framework Programme (FP7/2007-2013) under REA Grant Agreement; People Programme (Marie Curie Actions); Arthritis Research UK; EMBO Installation Grant; Newton Advanced Fellowship; Cancer Research UK; Leducq Foundation LEAN Project

Cytokines are secreted or membrane-bound proteins that act as mediators of intercellular signaling to regulate homeostasis of the immune system. They are produced by cells of innate and adaptive immunity in response to microbes and tumor antigens. Although there are several studies showing that IL2-330 gene polymorphism is associated with many types of cancer, as far as we know, there is a few study investigating the association between lung cancer and IL2-330 gene polymorphism. In this study, the role of IL2-330 gene polymorphism in the pathogenesis of lung cancer was investigated. 96 patients who were diagnosed with lung cancer and 96 age and sex matched healthy subjects participated in the study. Genomic DNA was isolated using the blood DNA isolation kit and the IL2-330 gene polymorphism was determined by polymerase chain reaction-confronting two pairs primer method. When analyzed for the lung cancer group and the healthy group according to IL2-330 gene polymorphism, genotype and allele frequencies were found to be similar in both groups (p>0,05). As a result; there was no statistically significant difference between the groups. Considering the ethnic diversity of lung cancer, the study needs verified in other populations., Sitokinler, bağışıklık sisteminin homeostazını düzenlemek için hücreler arası sinyalleşmenin aracıları olarak görev yapan, salgılanan veya zara bağlı proteinlerdir. Mikroplara ve tümör antijenlerine yanıt olarak doğuştan gelen bağışıklığa sahip hücreler tarafından üretilirler. IL2-330 gen polimorfizminin birçok kanser türü ile ilişkili olduğunu gösteren birkaç çalışma olmasına rağmen, bildiğimiz kadarıyla akciğer kanseri ile IL2-330 gen polimorfizmi arasındaki ilişkiyi araştıran az sayıda çalışma vardır. Bu çalışmada IL2-330 gen polimorfizminin akciğer kanseri patogenezindeki rolü araştırılmıştır. Çalışmaya akciğer kanseri tanısı almış 96 hasta ile yaş ve cinsiyet bakımından uyumlu 96 sağlıklı, gönüllü birey katıldı. Genomik DNA izolasyon kiti kullanılarak izole edildi ve IL2 -330 gen polimorfizmi polimeraz zincir reaksiyonu ile iki çift primer yöntemiyle karşılaştırılarak belirlendi. Akciğer kanserinde IL2-330 gen polimorfizmine göre hasta grubu ve sağlıklı grup incelendiğinde genotip ve allel frekanslarının her iki grupta benzer olduğu görüldü (p>0,05). Sonuç olarak gruplar arasında istatistiksel olarak anlamlı bir fark yoktu. Akciğer kanserinin etnik çeşitliliği göz önüne alındığında, çalışmanın diğer popülasyonlarda da doğrulanması gerekmektedir.

miR-1841 geni insan genomunda bulunan ve bazı kanser türlerinin erken tespiti için biyobelirteç olduğu literatürde belirtilmektedir. Genetik moleküllerin rollerinin kavranmasında sentetik olarak üretilebilen miRNA molekülleri ile yapılan çalışmalar önemli yer tutmaktadır. miRNA moleküllerinin elektrokimyasal olarak tespit ve analizleri için öncelikle anti-miRNA molekülleri elektrot yüzeyine tutturulup ardından miRNA molekülleri ile etkileştirilerek hibridizasyona bağlı sinyal değişiklikleri incelenmektedir. miRNA molekülerinin tespitindeki hassaslıkta immobilizasyon süresi ve sıcaklığının yanı sıra yüzeye tutturulan anti-miRNA konsantrasyonuda kritik öneme sahiptir. Bu kapsamda yapılan bu çalışmada, sentetik olarak üretilen anti-miRNA (anti-miR451(G)) molekülleri farklı konsantrasyonlarda fosfat tampon çözeltisi kullanılarak seyreltilmiştir. Daha sonar bu çözeltiler yüzey-baskı elektrotlar (SPEs) yüzeylerine immobilize edilerek diferansiyel puls voltametri (DPV) metodu ile guanine oksidasyon sinyaleri incelenmiştir. Uygun konsantrasyonda hazırlanan çözelti damlatılmış SPE yüzeyler -18, +5 ve +25 oC sıcaklıklarda 1, 3, 14 ve 21 gün aralıklarda bekletilip DPV ölçümleri yapılarak optimum immobilizasyon süre ve sıcaklığı tespit edilmeye çalışılmıştır. DPV ölçüm sonuçlarına göre anti-miRNA’lardaki guanine oksidasyon sinyali immobilizasyon çözeltisinde bulunan anti-miRNA miktarına bağlı olarak belirli bir konsantrasyona kadar dramatik bir şekilde artmıştır daha sonra konsantrasyon artsa bile yüzeyin belirli bir doygunluk değerine ulaştığı için daha az artma eğilimine girmiştir. Ölçüm sonuçları değerlendirildiğinde SPE yüzeylerine tutturulmuş anti-miRNA moleküllerinin en yi bekleme sıcaklığının +5 oC olduğu gözlemlenmiştir., Synthetically produced miRNA molecules plays an important role as biomarker to examine and investigate the diagnosis of some diseases including cancer. In order to develop a sensitive electrochemical biosensor system for the detection of miRNA molecules, the anti-miRNA molecules are synthesized and immobilized on the biosensor surfaces and observe the signal changes via a proper measurement. Immobilization time and temperature along with the anti-miRNA concentration are critically important for an appropriate observation of the miRNA detection sensitivity of the prepared biosensor system. In this regard, synthetically produced anti-miRNA (anti-miR451(G)) was purchased and diluted into different concentration by using phosphate buffer solution. Then, the solutions were immobilized on the screen printed electrodes (SPEs) and the guanine oxidation signal of the anti-miRNA molecules were observed via differential pulse voltammetry method (DPV). An appropriate concentration of the solution was selected and dropped on the SPEs and held on at different temperatures (-18, +5 and +25 oC) for 1, 3, 14 and 21 days and DPV measurements were conducted to investigate the optimum immobilization time and temperature. The result shown that guanine oxidation signal was increased by increasing the concentration of the genetic molecules in the immobilization solution and increased less after that point when the concentration increased more because the surface reached to a certain saturation value . The guanine oxidation signal revealed that the best suitable storing temperature after the immobilization was +5 oC determined.

SIRE1, Tyl/Copia Uzun Uç Tekrarlı (Long Terminal Repeats- LTR) retrotranspozon üst ailesine ait olan aktif, nispeten yüksek kopyalı bir retroementtir. Arpa genomundaki ayırt edici SIRE1 elementlerinin (ENV ve GAG) dağılımları floresan in situ hibridizasyonu (FISH) kullanılarak gözlemlendi. Tetramethylrhodamine-dUTP (TRITC)-işaretli probların elde edilmesinde PCR gerçekleştirildi. SIRE1 ENV ve GAG domainlerinin yerleşimleri, Hordeum vulgare L. cv. Hasat kök preparatlarında konfokal mikroskobu altında gösterildi. Sonuçlarımız, arpa genomundaki SIRE1 elementlerinin ENV ve GAG dağılımlarını göstermektedir. Bu sonuçlar, SIRE1 elementlerinin arpa genomunun organizasyonunun ortaya çıkarılmasına katkı sağlayacaktır., SIRE1 is an active and relatively high copy-number retroelement belongs to the Tyl/Copia long terminal repeat (LTR) retrotransposon superfamily. Distinctive SIRE1 elements (ENV and GAG) distributions in barley genome were observed by using fluorescent in situ hybridization (FISH). We performed PCR to obtain tetramethylrhodamine-dUTP (TRITC)-labelled probes. Localizations of SIRE1 ENV and GAG domains were demonstrated under confocal microscope on Hordeum vulgare L. cv. Hasat root preparations. Our results revealed the distributions of SIRE1 elements ENV and GAG in barley genome. These results may provide to uncover the organization of SIRE retrotransposon pattern in barley genome.

Plants are sessile organisms affected by changing environment, especially biotic and abiotic stress. Long non-coding RNAs (lncRNAs) became prominent as crucial regulators in diverse biological mechanisms, including developmental processes and stress responses such as salinity. In this study, salinity related lncRNAs were sequenced and analyzed according to homology based on rice and maize lncRNA sequences. After sequencing, 72HASATROOT and 72TARMROOT were identified as 568 bp, additionally, 72HASATSHOOT and 72TARMSHOOT were also 568 bp according to reference sequence which are the member of the natural-antisense lncRNA with 565 bp. Besides, 77HASATROOT and 77TARMROOT were identified as 676 and 644 bp, additionally, 77HASATSHOOT and 77TARMSHOOT were 666 bp according to reference sequence alignment that reference sequence was 667 bp and the sno-lncRNA member. Sequencing studies demonstrated sequence alterations resulted in secondary structure changes which may affect the adaptation of varieties in response to stress. As a conclusion, rapid evolution of lncRNAs may be another force for adaptation to changing environment in plants.

Kidney stone is a complex disease resulting from environmental as well as hereditary factors and principally composes of approximately 75% calcium oxalate (CaOx) crystals, which are formed through a multi-step process. Osteopontin gene was identified by isolating cDNA from cultured rat osteosarcoma cells in 1986. Osteopontin gene located on human chromosome 4 (4q22.1). This gene encodes several non-collagenous bone and dentin proteins. In this study, 93 normal control samples and 92 kidney stonedisease samples that were grouped according to the types of kidney stone disease and clinical characteristics of patients, including gender and average age were observed with restriction fragment length polymorphism (RLFP) technique.58 patients and 43 controls displayed the “C or G” / “C or G” genotype, 48 patients and 34 controls displayed T / “G or C” genotype. Since there is no appropriate restriction enzyme to recognize the G or C nucleotide in that position, it could not be possible to discriminate the C-G nucleotides. Additionally no T/T genotype was observed. The results werefound statistically significant by chi-square test (p < 0.05). In conclusion,the analysis of the polymorphism showed that OPN gene might be a risk factor for kidney stone formation, and suggesting that genetic polymorphisms in OPN gene modify individual susceptibility to nephrolithiasis.

A study on crossability and inheritance of seed coat colour in cowpea was conducted between October, 2017 and August, 2018. Two accessions of cowpea: IT98K-205-8 (white seeded) and IT98K-555-1 (brown seeded) were used for the study. Plants were raised in plastic pots in the screen house, and as flowers mature, crosses were performed manually, early in the morning between 7.00 and 9:30 AM. Significant level of differences were detected between the crosses for all traits observed except for number of seeds per pod. Overall, 19 successful pods were generated from 67 crosses representing 28.36% success rate, and indicating a low level of compatibility between accessions. All seeds of F1 plants were black, contradicting the model that maternal parents determine the phenotypes of F1s. However, the two parents bred true for seed coat colour indicating their pure line status. It was shown that maternal effect played significant role regarding crossability, but did not influence the seed coat colour inheritance of the crop. These results indicated epistasis, and it is suggested that the inheritance of seed coat colour in cowpea is polygenic.

This study was undertaken to assess genetic and phenotypic diversity of Turkish okra (Abelmoschus esculentus (L.) Moench) germplasm of 26 landraces including three cultivars (Akköy-41, Kabaklı-11, and Marmara-1) with 34 phenotypic traits and 74 iPBS- retrotransposon primers. Leaf-blade size, fruit length, fruit diameter, fruit number per plant, petiole length, plant height, stem diameter, number of stem nodes, and plant growth type (degree of branching) were the most important morphological traits contributing to the variation. Comparison of genotypes with 14 iPBS-retrotransposon primers yielded 141 bands, 34 of which (24.1%) were polymorphic, with the primer 2271 producing the highest (6) bands per primer. Cluster analysis based on phenotypic and molecular markers produced two major groups. Phenotypic based unweighted pair group method with arithmetic mean (UPGMA) dendrogram had 12 sub-groups with the highest similarity (0.63) between GAN-19/GAN-21 and MGL-6/Akköy-41 genotypes. The markers, however, produced a dendrogram with eight subgroups, pairwise genetic similarities ranging from 0.43 to 1.00, where MGL-6 singled out with a similarity value of 0.57. Howbeit, the Mantel test between both dendrograms based on the similarity matrix was insignificant.

Background: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue-limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin. Results: Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series, whereas in one stillbirth, following the clinical diagnosis of PKS, skin and buccal smear samples were taken, and all karyotypes from cultured fibroblasts revealed a supernumerary i(12p), while I-FISH study showed 60% mosaicism in mucosal cells. Conclusions: We here share the clinical, cytogenetic and molecular cytogenetic findings of 15 cases with PKS phenotype and the parental origin of seven i(12p) identified by molecular analyses. To our knowledge, this is the largest series of PKS patients with parental origin study from a single center. We believe that our study makes a significant contribution to the literature because we specifically found no differences in the phenotypes of cases with either a maternal or paternal origin of the extra element and differential imprinting appeared not to be a factor., NA

Sotos syndrome is one ofthe most common overgrowth syndromes. It was first described by Juan Sotos in 1964.The incidence has been reported 1: 14,000. Major findings of the diseases includeovergrowth associated with advanced bone age, learning disability, and specificfacial dysmorphism. Although most of the cases are sporadic, cases withautosomal dominant inheritance have also been reported. The NSD1 gene associated with the disease islocalized to the q35 region of chromosome 5. The likelihood of symptoms, suchas tumors, hypermetropia, strabismus, and hypoglycemic attacks are quiteunlikely. However, it is recommended that all patients be monitored for tumorssuch as teratoma and neuroblastoma. In this article, we present a rare case ofSacrococcygeal teratoma diagnosed with Sotos syndrome in our center., Sotos sendromu aşırıbüyüme sendromları arasında yer alır. İlk defa Juan Sotos tarafından 1964yılında tanımlanmıştır. Görülme sıklığı 1:14.000 olarak bildirilmiştir. Hastalığınmajor bulguları: İlerlemiş kemik yaşının eşlik ettiği aşırı büyüme, öğrenmegüçlüğü ve kendine özgü fasial dismorfizmdir. Vakaların çoğu sporadik olmaklabirlikte otozomal dominant olarak kalıtılan olgular da rapor edilmiştir.Hastalıkla ilişkilendirilen NSD1 geni5. Kromozomun q35 bölgesine lokalize olmuştur. Tümör, hipermetropi, strabismusve hipoglisemik atak gibi bulguların görülme olasılığı oldukça düşüktür. Bunarağmen, bütün hastaların teratom ve nöroblastom gibi tümörler açısındanizlenilmesi önerilmektedir. Bu makalede merkezimizde Sotos sendromu tanısıkonulan ve nadir görülen Sakrokoksigeal teratomla seyreden bir olgu sunulacaktır.