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Kratki film u kome se pojavljuje Žuža Marinković koja je preživela Holokaust, pripremile su učenice IV razreda Železničke tehničke škole u Beogradu Nataša Bogdanović i Jovana Đurović u saradnji sa profesorkom sociologije Nadom Banjanin Đuričić. Film je kreiran u okviru programa "Holokaust - Kultura sećanja"., A short film featuring Žuža Marinković, who survived the Holocaust, was prepared by Nataša Bogdanović and Jovana Đurović, students of the 4th grade of the Railway Technical School in Belgrade, in cooperation with sociology professor Nada Banjanin Đuričić. The film was created as part of the "Holocaust - Culture of Remembrance" program.

Uvod. Genetičke analize mogu ukazati na uzrok infertiliteta kod ţena kod kojih klinički testovi nisu uspeli da utvrde razloge reproduktivnog neuspeha. Cilj. Cilj ovog rada je da se ispita postojanje veze genskih polimorfizama asociranih sa trombofilijom i polimorfizama u genu za receptor za vitamin D (VDR) sa idiopatskim infertilitetom. Materijal i metode. U studiju je uključeno 117 pacijentkinja sa idiopatskim infertilitetom, kao i 130 ţena sa najmanje jednom trudnoćom realizovanom bez komplikacija. Primenom TaqMan metode uzorci su genotipizirani u odnosu na polimorfizme: FV 1691 G>A, FII 20210 G>A, MTHFR 677 C>T, MTHFR 1298 A>C, PAI-1 -675 4G/5G, ATIII 786 G>A, ACE I/D i ITGB3 1565 T>C, dok su polimorfizmi u VDR genu analizirani primenom restrikcionih enzima (FokI, BsmI, ApaI i TaqI). Rezultati. Ispitivanjem etioloških faktora pokazano je da je porodična anamneza značajan faktor pri proceni individualnog rizika za infertilitet. Utvrđeno je da visokorizične varijante FV 1691A i FII 20210A predstavljaju nezavisne faktore rizika za nastanak primarnog infertiliteta. Analizom multilokusnih interakcija definisani su kompleksniji genotipovi asocirani sa sekundarnim infertilitetom. Ispitivanja polimorfizama u VDR genu pokazala su postojanje protektivne uloge alela F u FokI i alela B u BsmI polimorfizmu. Pored toga, analizom vezanosti markera u VDR genu identifikovano je postojanje haplotipova, od kojih je bAT povećavao rizik za sekundarni infertilitet, dok je BAT imao protektivnu ulogu za nastanak primarnog infertiliteta. Zaključak. Analiza polimorfizama u genima asociranim sa trombofilijom i genu za VDR ne samo da definiše moguće kliničko-genetičke dijagnostičke procedure, već sugeriše moguće mehanizme za odrţavanje hemostatskog i imunološkog balansa u procesu reprodukcije., Introduction. Genetic analysis may indicate cause of infertility in women to whom clinical trials have failed to determine the causes of reproductive failure. Aim. The aim of this study is to investigate a link between polymorphisms associated with thrombophilia and polymorphisms in the vitamin D receptor gene (VDR) with idiopathic infertility. Material and methods. This study included 117 female patients with idiopathic infertility, as well as 130 women with at least one pregnancy without complications. Using TaqMan method, the samples were genotyped for polymorphisms: FV 1691 G>A, FII 20210 G>A, MTHFR 677 C>T, MTHFR 1298 A>C, PAI-1 -675 4G/5G, ATIII 786 G>A, ACE I/D and ITGB3 1565 T>C, while VDR gene polymorphisms were analyzed using restriction enzymes (FokI, BsmI, ApaI and TaqI). Results. Examination of etiological factors has shown that family history is a significant factor in assessing individual risk for infertility. High risk variants FV 1691A and FII 20210A have been shown to be independent risk factors for occurrences of primary infertility. An analysis of multilocus interactions defined more complex genotypes associated with secondary infertility. Polymorphisms testing in VDR gene showed the existence of a protective role of allele F in FokI and allele B in BsmI polymorphisms. In addition, the analysis of the linkage in VDR gene identified the existence of haplotypes, of which bAT increased the risk of secondary infertility, while BAT had a protective role of primary infertility. Conclusions. The analysis of polymorphisms in the genes associated with thrombophilia and the VDR gene not only defines possible clinical-genetic diagnostic procedures, but suggests possible mechanisms for maintaining hemostatic and immune balance in the reproductive process.

Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C > T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A > C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C > T and 1298A > C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C > T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although, there was no differences compared to healthy control (p > 0.05), 43% of patients were found to have elevated risk which is about four time higher than results with only MTHFR 677C > T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A > C) should be considered, since we have shown that it dramatically increases the rate of detection of patients who are potentially at risk for MTHFR associated conditions.

SOX proteins constitute a large family of diverse and well conserved transcription factors implicated in the control of various developmental processes. Previously we have cloned and characterized human SOX3, SOX14 and SOX18 genes and performed functional characterization of their promoter regions. To better understand organization and function of SOX3, SOX14 and SOX18 promoters and to determine evolutionary conserved regulatory regions, we performed comparative genomic analyses of orthologous genes promoters. Mammalian orthologs of the human SOX3, SOX14 and SOX18 genes show high sequence identity in their promoter regions, particularly within basal promoters of the respective human genes. Binding sites for transcription factors NF-Y, Sp1 and USF1, previously shown to play critical roles in transcriptional regulation of these human genes, are highly conserved in sequence and position among diverse mammalian species. Conservation of binding sites might indicate their highly significant roles in maintaining the transcriptional regulation of these genes among different species.

U ovom radu je prikazana metoda za brzu izolaciju i identifikaciju proteina koji se vezuju za specifične sekvence na DNK, zasnovana na magnetnom razdvajanju. Ovom metodom je potvrđeno direktno vezivanje humanog rekombinantnog proteina USF1 za potencijalno vezivno mesto (E blok) u promotorskom regionu humanog SOX3 gena. Pokazano je da se rekombinantni USF1 protein, u prisustvu kompetitorske DNK, specifično vezuje za DNK fragment koji je obeležen biotinom i vezan za magnetne kuglice obložene streptavidinom. Takođe, pokazano je da se protein može eluirati sa kuglica u visokom prinosu i sa očuvanim afinitetom za vezivanje za DNK. Prednost ove metode je što se, uz manje modifikacije, može uspešno primeniti za preičišćavanje i identifikaciju svih proteina koji se vezuju za specifične sekvence na DNK., In this paper, a method for the rapid identification and purification of sequence specific DNA binding proteins based on magnetic separation is presented. This method was applied to confirm the binding of the human recombinant USF1 protein to its putative binding site (E-box) within the human SOX3 protomer. It has been shown that biotinylated DNA attached to streptavidin magnetic particles specifically binds the USF1 protein in the presence of competitor DNA. It has also been demonstrated that the protein could be successfully eluted from the beads, in high yield and with restored DNA binding activity. The advantage of these procedures is that they could be applied for the identification and purification of any high-affinity sequence-specific DNA binding protein with only minor modifications.

SOX14 is a member of SOX gene family of putative transcriptional regulators. In this study we described the initial characterization of the human SOX14 gene promoter. The transcription start site was mapped by primer extension analysis. The minimal SOX14 promoter region that confers the basal promoter activity, as well as a proximal enhancer, was determined using promoter-reporter constructs. By mutational analysis we have shown that CCAAT box motif present in the SOX14 promoter plays a functional role in the transcription of this gene.

Molekularna genetika je pružila mogućnost za poboljšanje selekcije i produkcije kod domaćih životinja primenom genetičkih markera. Primena DNK markera imala je revolucionarni uticaj na projekte mapiranja gena i razvoj animalne genetike. Istraživanja su usmerena na identifikaciju gena odgovornih za variranje osobina, kao i na detekciju genetičkih markera koji se mogu koristiti u programima ukrštanja i selekcije. Tehnologija genetičkih markera, kao što je selekcija vezana za markere (MAS), identifikacija pedigrea i genska introgresija, mogu se primeniti u oblasti selekcije kod stoke. Selekcija vezana za markere (MAS) koristi informacije o genetičkim markerima za predviđan je produkcionog potencijala i omogućuje dodatne informacije za poboljšanje efikasnosti selekcije. Cilj je genetičko usavršavanje selekcije životinja i njihove produkcije. Zbog toga se genetički markeri vrlo intenzivno koriste za procenu vezanosti sa genima koji imaju uticaj na osobine od ekonomskog značaja. Ove osobine uključuju genetički uslovljene varijante proteina mleka, otpornost na bolesti i stres, kao i osobine koje utiču na kvalitet mesa, rast i osobine karakasa. Primena selekcije bazirane na tehnologiji markera omogućiće maksimalno poboljšanje ekonomske vrednosti kod domaćih životinja. ., Molecular genetics made available genetic markers as a powerful tool for genetic improvement of animal selection and production. The development of DNA-based markers has had a revolutionary impact on gene mapping and animal genetics. The research is focused on the identification of the genes responsible for the variability of traits and detection of the genetic markers useful for selection and crossbreeding programs. Genetic marker technologies, such as marker-assisted selection (MAS), parentage identification and gene introgression can be applied to livestock selection programs. Marker-assisted selection (MAS) is a method which uses information on the location of markers to predict production potential and to improve the efficiency of selection. The major goal is genetic improvement of animal selection and production. Genetic markers are used to estimate the association with economically important trait loci. Traits of economic interest include milk protein genetic variants, milk production, disease and stress resistance and meat quality, growth and caracass traits. Selection based on marker technologies will allow maximum improvement in the economic value of domestic populations.

Molekularno genetička analiza zasnovana na primeni genetičkih markera omogućila je genetičko poboljšanje selekcije i produkcije kod domaćih životinja. Istraživanja su usmerena na identifikaciju gena odgovornih za variranje osobina, kao i na detekciju genetičkih markera koji se mogu koristiti u programima ukrštanja i selekcije. Genetički markeri se koriste za procenu vezanosti sa genima koji utiču na osobine od ekonomskog značaja u cilju genetičkog usavršavanja selekcije i produkcije kod domaćih životinja. Te osobine uključuju genetički uslovljene varijante proteina mleka koje imaju uticaj na prerađivačke osobine mleka, kao i genetički uslovljenu otpornost na različite oblike infekcija., Genetic marker technologies, such as marker-assisted selection, parentage identification and gene introgression, can be applied in livestock selection programmes. Marker-assisted selection (MAS) that uses genetic markers for the evaluation of linkages with to predict an animal production potential will provide additional selection information for progeny testing. Selection based on marker technologies provides the genetic improvement and prompt and efficient selection of animals with the best combinations of alleles, regardless of their age or sex. The specific aim of the present study was to achieve a substantial increase in efficiency of artificial selection and the maximum improvement in the economic value of domestic populations.