Scientific Program

Conference Series Ltd invites all the participants across the globe to attend 13th International Conference on Genomics and Molecular Biology Rome, Italy.

Day 1 :

Conference Series Genomics 2020 International Conference Keynote Speaker Sergey Suchkov photo
Biography:

 

Henry M. Sobell completed his studies at Brooklyn Technical High School (1948-1952), Columbia College (1952-1956), and the University of Virginia School of Medicine (1956-1960). Instead of practicing clinical medicine, he then went to the Massachusetts Institute of Technology (MIT) to join Professor Alexander Rich in the Department of Biology (1960-1965), where, as a Helen Hay Whitney Postdoctoral Fellow, he learned the technique of single crystal X-ray analysis. He then joined the Chemistry Department at the University of Rochester, having been subsequently jointly appointed to both the Chemistry and Molecular Biophysics departments (the latter at the University of Rochester School of Medicine and Dentistry), becoming a full tenured Professor in both departments (1965-1993). He is now retired and living in the Adirondacks in New York, USA.

Abstract:

 

A new systems approach to diseased states and wellness result in a new branch in the healthcare services, namely, personalized and precision medicine (PPM). To achieve the implementation of PPM concept, it is necessary to create a fundamentally new strategy based upon the recognition of biomarkers and thus the targets to secure the grand future of drug design and drug discovery.

Each decision-maker values the impact of their decision to use PPM on their own budget and well-being, which may not necessarily be optimal for society as a whole. It would be extremely useful to integrate data harvesting from different databanks for applications such as prediction and personalization of further treatment to thus provide more tailored measures for the patients resulting in improved patient outcomes, reduced adverse events, and more cost effective use of the latest health care resources including diagnostic (companion ones), preventive and therapeutic (targeted molecular and cellular) etc. PPM, genomics and AI are those of the most rapidly emerging areas of biomedical research and the most promising technologies for improving health care and health outcomes. Examples include the use of AI for improved DNA sequencing and SNP analysis to target specific cell and tissue types, biosensors for specific molecules in vivo, and point-of-care molecular diagnostic devices enabled by genomics- and AI tools. The enormous development of genomics research has raised great expectations concerning its impact on PPM aiming to customize medical practice with a focus on the individual, based on the use of genetic tests, identification of genomic biomarkers, and development of targeted drugs. Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information. The emphasis on individuals and genomic knowledge needs to be counterbalanced with the subjects’ understanding in their sociocultural, political, and economic contexts and with the equivalent investment in actions on the social determinants of health. The above-mentioned areas being an integral part of PPM is really an interdisciplinary research field that results from the application of the innovative genomic and AI tools to medicine and has the potential to significantly improve some canonical treatments, prevention, prophylaxis and rehabilitation. Specifically, in the field of PPM, it is expected to have a great impact in the near future due to its multiple advantages, namely its versatility to adapt a drug to cohorts of patients and/or persons-at-risk. For instance, multimodal genomic and AI-driven approaches may indeed become a key driver in harmonizing the needs of the various stakeholders by allowing cost-effective delivery and monitoring of drug efficiency and safety, and close-meshed high-quality data collection.

Keynote Forum

Mingzhu Yin

Xiangya Hospital, Central South University, China

Keynote: Potent BRD4 inhibitor suppresses cancer cell-macrophage interaction

Time : 10:30-11:00

Conference Series Genomics 2020 International Conference Keynote Speaker Mingzhu Yin photo
Biography:

Mingzhu Yin has completed his MD at the age of 25 years from Harbin Medical University and postdoctoral studies from Yale University School of Medicine. He is the co-director of Dermatology Department at the Xiangya Hospital. He has published more than 40 papers in reputed journals and has been serving as an editorial board member of repute.

Abstract:

Small molecule inhibitor of the bromodomain and extraterminal domain (BET) family proteins is a promising option for cancer treatment. However, current BET inhibitors are limited by their potency or oral bioavailability. Here we report the discovery and characterization of NHWD-870, a BET inhibitor that is more potent than three major clinical stage BET inhibitors BMS-986158, OTX-015, and GSK- 525762. NHWD-870 causes tumor shrinkage or significantly suppresses tumor growth in nine xenograft or syngeneic models. In addition to its ability to downregulate c-MYC and directly inhibit tumor cell proliferation, NHWD-870 blocks the proliferation of tumor associated macrophages (TAMs) through multiple mechanisms, partly by reducing the expression and secretion of macrophage colony stimulating factor CSF1 by tumor cells. NHWD-870 inhibits CSF1 expression through suppressing BRD4 and its target HIF1α. Taken together, these results reveal a mechanism by which BRD4 inhibition suppresses tumor growth, and support further development of NHWD-870 to treat solid tumors.

  • Genomics |Clinical Genomics | Next Generation Sequencing | Cancer Science | Molecular Biology| Targeted Cancer Therapy | Cancer Epidemiology | Cancer Science | Cancer Therapy
Location: Webinar

Chair

Mingzhu Yin

Xiangya Hospital, Central South University, China

Session Introduction

Krishna Dronamraju

Foundation for Genetic Research, USA

Title: The Future of Genomics
Biography:

Krishna Dronamraju is President of the Foundation for Genetic Research in Houston, Texas, USA. He received his Ph.D. from the Indian Statistical Institute while working with the famous scientist J.B.S. Haldane. Dr. Dronamraju is the author of over 100 research papers and 22 books in genetics, biotechnology and the history of science. He was an Advisor to the U.S. Government in Genetics and Agriculture. He is a recipient of the Nayudamma Award in Science and a Visiting Professor of the University of Paris.

Abstract:

The future of Genomics holds much promise and opportunities. These are briefly mentioned here and will be expanded in an oral presentation. Evaluating scientific evidence to support valid and useful genetic tests and counseling. Monitoring the use of genetic tests and family health history in populations, and evaluating the outcome in various families.  Exploring  the use of valid and useful genetic tests and family health history tools to plan clinical practice, policy, and design programs to detect people who are at risk for disease, make diagnoses, and suggest appropriate interventions. Inserting genomic information and clinical decisions in health records. Developing practical recommendations that evaluate the net health benefit of genetic tests and family health information. Evaluating the impact of genetic applications in individual families, local communities and populations. Develop efficient methods to interpret and translate recommendations into practice. Incorporating genomics education at all levels in schools. Maintaining the privacy and confidentiality of genomic information of all kinds. Coordination of Genomic data from all sectors of the academia, the industry, as well as all other sections of the society.

Sami Mohamed Nasr

Biochemistry and Molecular Biology Department, Theodore Bilharz Research Institute, Egypt

Title: Circulating Cancer Stem Cells Markers in prognostication of hepatocellular carcinoma
Biography:

Sami Mohamed “Lecturer of Molecular Biology, Theodor Bilharz Research Institute” is a Faculty of Science, Ain Shams University graduate (Ph.D.) .He works as a lecturer of biochemistry and molecular biology in Biochemistry and molecular biology and Midicinal chemistry dept., from 2003 up till now. His postgraduate studies were in Molecular Biology (Ph.D.) in collaboration with Rochester University, Biomedical Engineering dept., New York, USA. He has been carrying out research work on Recombinant pharmaceutical protein production and has been involved in research topics on: Biochemical and Biophysical Studies on Recombinant Human Growth Hormone Expressed in a Prokaryotic SystemThese studies helped in further elucidation of the process development of pharmaceutical protein production. He has shared and worked as PI and Co-PI in 5 research projects sponsored by international and national agencies.

Abstract:

The identification of non-invasive cancer stem cells markers for predicting patients at high risk of Hepatocelular carcinoma (HCC) development to allow early intervention and consequently reducing mortality and disease burden. In HCC, liver Cancer stem sells (LCSCs), expressing molecular markers (e.g. CD133, CD90, CD44 and EpCAM), exhibited resistance to radiotherapy and chemotherapy in vitro and in vivo through up-regulating the expression of drug efflux-related proteins and activating anti-apoptotic pathways and stem cell-related pathways. In the present study we used Chronic HCV infection group (n= 40),  HCV with liver cirrhosis group (n= 40), HCV-HCC group (n= 40) and Age- and sex-matched individuals (n=35) as controls. The results revealed a variation in CD133/EpCAM lymphocytes in compare to EpCAM lymphocytes or CD133 lymphocytes and so is CD133/EpCAM Granulocytes or EpCAM Granulocytes and CD133 Granulocytes and the percentage of total CD133, total CD133/EpCAM. Total EpCAM expression was associated with younger age, and. The prognostic role of CD133 was most significant in HCC, while the prognostic role of EpCAM was more apparent in more advanced stages. We are planing to evaluate mononuclear cells nuclic acid Single nucleotide polymorphisms (SNPs) in CD133 (rs2240688A>C and rs3130C>T) using taqMan genotyping. TaqMan miRNA Reverse Transcription and  qPCR reactions will be performed using MicroRNA-1825 primer assay while miRNA-39 will utilized as an endogenous control to normalize the data.

Biography:

Hye Won Park is a PhD student at Yonsei University College of Medicine in South Korea. She is the assistant professor in Konyang University Hospotal.

Abstract:

The initial clinical diagnosis was hereditary optic neuropathy, after next-generation sequencing the final diagnosis are changed on 2 patients with retinal diseases. A 19 years old male visit my clinic for the evaluation of low vision. His cycloplegic refration was – sph 5.50 + cyl 0.25 Ax 105 on right eye, and –sph 5.00 + cyl 0.50 Ax 80. His best corrected vision was 20/100 on both eyes at initail visit. He has the maculo-papillary bundle defect on both eyes. And visual field test showed central scotoma on bothy eyes. The first case was identified the ABCA4 mutant variant carried compound heterozygous variant.

A 19 years old male visit my clinic for the evaluation of low vision and color blindness. His cycloplegic refration was – sph 9.25 + cyl 0.75 Ax 105 on right eye, and –sph 9.75 + cyl 1.00 Ax 75. His best corrected vision was 20/100 on right eye and 20/70 on left eye at initail visit. He had temporal disc pallor and large cupping on both optic discs. And visual field defect showed superotemporal defect on right eye and central scotoma at left eye. The second case was identified the heterozygous R838C mutation in the GUCY2D gene.

Next-generation sequencing (NGS) technology allowed more patients to obtain a accurate molecular diagnosis. Although in small proportion of patients precision care can be provided, these findings are significant as individualized management can be achieved through genetic testing.

Biography:

With more than 20 years of experience in the life science industry, Peter is heading market and application development at Samplix. Here efforts are currently focused on the recently launched Xdrop™ technology which introduces an entirely new concept for target enrichment for both short and long read sequencing. Prior to joining Samplix Peter was Global Head of QIAGEN Genomic Services in Germany and the US and before joining QIAGEN, he was heading R&D at Exiqon overseeing life Science Product Development, Diagnostics, and Services.

Abstract:

Targeted sequencing data will never be better than the input material generated during the targeted enrichment process! While this may seem trivial, very few targeted enrichment technologies allow maintaining the integrity and quality of the DNA during enrichment. This results in both false positives and false negative results and can significantly impact conclusions. The Xdrop™ technology, a novel automated microfluidics-based targeted enrichment system, enables fast targeted enrichment while maintaining the quality of the DNA and thus makes it possible to avoid the artefacts introduced with other enrichment technologies. Here we show the Xdrop™ system being employed to sequence integrated viruses and their surrounding unknown chromosomal sequence, long GC repeats, and we show phasing of cancer mutations from sub-nanograms of DNA. Regions of 40-70 kb are enriched and sequenced using Illumina, PacBio, and Oxford Nanopore sequencing at high coverage. Apart from the Xdrop™ reagents, just 0.2-10 ng of input DNA and two adjacent 20-25 bp primers are used for the enrichment of a chromosomal region and it is therefore fast and easy to set up for a new region. The primers are located in the central part of the enriched region which means that partially unknown regions can also be enriched using the system making it relevant for regions with structural variation, CRISPR gene editing, gap closing, variable viruses or bacteria, pseudogenes etc. We also show that the Xdrop™ system can be used for general, unbiased isothermal amplification of small amounts of samples of DNA for any type of downstream sequencing.

Biography:

Sang Youn Hwang is currently affiliated to the Department of Internal Medicine and Gastrointestinal Cancer Centre in Dongnam Institute of Radiological & Medical Sciences, Republic of Korea.

Abstract:

Abstract

 

Background: Cabozantinib is approved as second line therapy in patients with progression after sorafenib in hepatocellular carcinoma (HCC) patients, however the study about efficacy of cabozantinib as third or fourth line therapy (esp. in the case of progression after nivolumab). We aimed to evaluate the efficacy and safety of cabozantinib as 3rd & 4th line treatment in patients with advanced HCC with progressive disease after TKI and nivolumab.

Methods: Eligible advanced HCC patients with documented radiological evidence of disease progression with previous 1st & 2nd line systemic treatment were recruited in our hospital from Mar 2019 to Aug 2019. All patients initially received cabozantinib 60mg daily as fixed starting dose every 4 weeks for unlimited cycles untile radiologic progression.

 

Results:  Six patients (3rd line Tx in one patient, 4th line Tx in five patients) were enrolled in the study. All five patients previously received three sequential therapies (sorafenib → regorafenib → nivolumab) and only one patient received two sequential therapies (sorafenib → nivolumab). The median level of AFP was 128.6 ng/mL (1.3-20948), that of PIVKA was 2131 mAU/Ml (1057-29440) in 2L group. The median OS was 5 months (range 3-6.5) and the median PFS was 4 months (range 3-6.5). The OS and in sorafenib responder & non responder were not different significantly (median OS 4 vs 3 months; p-value=0.503). All patient achieved stable disease. Grade 3 or 4 adverse events occurred in 3 patients (66.6%). The most common high-grade events fatigue (50%) and diarrhea (16%). Interruption of drug was happened in all patients within 8 weeks and dose reduction was occurred in 4 patients (66.6%).

Conclusions: Our study suggests that cabozantinib can be relatively effective and safe strategy as 3rd and 4th line therapy in HCC patients refractory for previous systemic therapy. A further well controlled, large scaled study to prove survival benefit is recommended.

Zheng Wu

Capital University of Physical Educationand Sports, China

Title: Important crosstalk of post-translational modifications in diverse diseases
Biography:

Zheng Wu has completed her MD at the age of 27 years from Peking University Health Science Center. She has been serving as a lecturer in School of Kinesiology and Health in Capital University of Physical Education and Sports since 2017. She has published 3 papers in SCI journals as the first author.

Abstract:

 

Multiple post-translational modifications (PTMs) can influence the actions of each other positively or negatively, termed as PTM crosstalk or PTM code. Increasing evidence demonstrates that deregulation of PTMs crosstalk is involved in the genesis and development of various diseases, among which cancer appears to be the most widely studied. In the review, we focused on the crucial roles of PTMs crosstalk in neoplastic diseases and demonstrate their functions by different types of modifications pairs, including the combinations of phosphorylation, acetylation, ubiquitination, SUMOylation and O-GlcNAcylation. For each type of combination, PTMs crosstalk was discussed by positive or negative relashionships, as well as within one protein (intra-protein) or across different proteins (inter-protein). No matter in intra-protein or inter-protein crosstalk, the modifications may influence cancer progress through activation or degradation of the substrates, thereby regulating the pathological development, metastasis, and resistance to chemotherapy of cancer diseases. PTMs crosstalk has been reported in various proteins associated with cancer diseases, such as oncoproteins, tumor suppressors, enzymes and transcription factors. Depending on the modified targets and associated residues in signaling pathways, crosstalk between different proteins could provide abundant promising targets for drug therapy and rehabilitation, as well as biomarkers for clinical diagnosis and prognosis.

Agnieszka Fus-Kujawa

Medical University of Silesia in Katowice, Poland

Title: Thermoresponsive star polymer surfaces as systems for gene therapy
Biography:

 

Agnieszka Fus-Kujawa has completed her Masters at the age of 24 years from University of Silesia in Katowice and has started her doctoral studies from Medical University of Silesia in Katowice in Department of Molecular Biology and Genetics. She is the assistant and has opened her doctoral thesis on March 2019. She has published in journals with Impact Factor and actively participates in scientific Conferences.       
 

Abstract:

 

Efficient and controlled delivery of nucleic acids by viral and synthetic carriers with low toxicity is one of the most important challenges facing the gene therapy. Nonviral vectors are perfect candidates for this goal because the use of viral vectors have a high risk of inducing unwanted immune responses. For medical applications, a use of nanostructured polymers every year brings more and more possibilities. The creation of new polymers and the study of their biocompatibility is very important to find better and safer vectors for gene therapy. In this work we compared conventional transfection and deposition transfection performed with the use of cationic star polymer. Obtained polyplexes were tested for cytotoxicity and luciferase activity using HT-1080 cells as a model. One of the solutions to increase transfection efficiency seems to be the deposition of the nucleic acid itself or its polyplex on solid support. The support used for the purpose is functioning as a substrate supporting the organization and differentiation of cells, while immobilized DNA or RNA delivers significant genetic information into the cells. The major advantages of the immobilization of nucleic acid/polyplexes include the direct contact of polymer layer loaded with the nucleic acid with the cells during the proliferation.The performed studies demonstrated that we obtained the novel effective system, based upon star polymer architecture, which is potentially useful for gene delivery. This work was supported by the Polish National Science Center contract no. UMO-2015/17/B/ST5/01095.

Biography:

Donato Gemmati is professor in Medical Genetics, Section of Medical Biochemistry, Molecular Biology & Genetics, University of Ferrara, Italy and Director of the Interdepartmental Research Center of Haemostasis & Thrombosis, University of Ferrara, Italy. He was born in Rome, Italy (12 Jan 1963), Specialized in Medical Genetics (2006) and PhD in Biomedical Sciences (2009), University of Ferrara, Italy. Board member of the Molecular Medicine PhD Course, University of Ferrara, Italy. Editorial board member: ì. International Journal of Molecular Sciences (Molecular Genetics and Genomics section); ìì. Genes (Human Genomics and Genetic Diseases section).

Abstract:

Inherited thrombophilia (i.e. venous thromboembolism, VTE) is due to rare genetic loss-of-function mutations, common genetic risk factors and acquired risk conditions, modulating onset age, severity, recurrence and penetrance of the main gene defect also within the same kindred. GWAS recently recognized about 1000 genes associated to VTE thought some gene defects may unpredictably remain asymptomatic, so calculating the individual genetic predisposition is a challenging task. Uncommon loss-of-function mutations in SERPINC1, PROC or PROS1 genes and common gain-of-function mutations in F5 (rs6025) or F2 (rs1799963) genes, are the key genetic risk factors. By multilocus genetic approach, we investigated a large family (68 members) characterized by severe VTE despite of life-long anticoagulant treatment. The main defects found were a common missense mutation (c.G1691A) in the exon_10 of F5 gene (p.R506Q, i.e. FV Leiden) and a type 1 antithrombin (AT) deficiency caused by a nonsense mutation (CGA>TGA) responsible for a premature stop codon (c.1171C>T; p.R391X) in the exon_6 of SERPINC1 gene. Cosegregation of both mutations was found in the propositus and in 18 (26.4%) family members, and the mutations never appeared as single-defect. SERPINC1 (1q25.1) and F5 (1q24.2) genes are very close in the long arm of chromosome 1, and the hypothesized cis-segregation was confirmed in all the carriers by linkage analysis of STR-(ATT)5-18 in the SERPINC1 IVS_5. Detailed studies in a branch of this family, revealed that the proposita had VTE after surgery (20y); one of her brothers had spontaneous VTE (21y) as well one of his sons after surgery (14y). Both his daughters had early VTE episodes and complicated pregnancies: ì. the older had bilateral VTE (29y) and perinatal renal thrombosis in the newborn characterized by in-utero origin; ìì. the younger had massive VTE and cerebral ictus (23y) requiring premature life-saving pregnancy-interruption. Molecular analyses performed in the newborn of the first daughter and in the aborted tissues from the second daughter confirmed the SERPINC1-F5 combined defect in both progenies. A multilocus-genetic approach performed in this branch of the family also included: F5 (rs1800595); F12 rs1801020; F13A1 rs5985; SERPINC1 rs121909548; SERPINA10 rs2232698; ABO rs8176719; F11 rs2036914; FGG rs2066865; KNG1 rs710446; F11 rs2289252. We found early VTE onset and recurrence being associated to FGG rs2066865 and F5 rs4524; whilst F5 (rs1800595) was fond in trans with F5 (rs6025) in the post-mortem analysis of the in-utero thrombosis material. The common F5 rs1800595 strongly synergizes with F5 rs6025 becoming a life-threatening condition when combined with SERPINC1 mutations. Merging classic and newly GWAS-identified genetic markers is mandatory for a complete and accurate VTE risk estimation and patient management in the clinical practice to avoid partial risk score estimation in unrecognized at risk patients.

Biography:

Veronica Tisato has completed her PhD from Padua University, Italy. Post-doctoral experience in Ferrara University, she is professor of Human Anatomy. Interests: Translational research, Gender Medicine, Regenerative Medicine, Personalized and Precision Medicine. Focus on inflammation and biomarkers in cardiovascular and complex diseases, aging, neurodegenerative/cognitive impairment diseases. Editorial board member of International Journal of Molecular Sciences.

Abstract:

 

In December 2019, a novel severe acute respiratory syndrome (SARS) from a new coronavirus (CoV-2) was recognized in the city of Wuhan, (China). Rapidly, it became epidemic in China and it has now a worldwide diffusion reaching pandemic proportions. High death rate characterizes CoV-2 disease (COVID-19) particularly striking elderly causing unrestrained cytokines-storm and consequent pulmonary shutdown. At the moment, no specific and dedicated treatments, neither approved vaccines are available, though very promising researches come from the side of anti-inflammatory and anti-malaria drugs. In addition, it seems that males are more susceptible to CoV-2 than females, with 65% more likely to die from the infection than females. Data from the World Health Organization (WHO) and Chinese scientists show that of all affected cases about 1.7% of women who contract the virus will die compared with 2.8% of men and data from Hong Kong hospitals state that 32% of male and 15% of female COVID-19 patients required intensive care or died. Conversely, in the long term the coronavirus fallout may be worse for women than men due to social and psychosocial reasons. Regardless the sex- or gender-gap data obtained from WHO and those recruited from scientific journals sometimes controversial, some central points should be considered. Firstly, CoV-2 has a strong interaction with human ACE2 receptor playing essential role in cell entry; interestingly the ACE2 gene lays on the X-chromosome rendering females potentially heterozygous and differently assorted versus men definitely hemizygotes. Secondly, the highest ACE2 expression rate in females, though controversial, might ascribe them the worst prognosis, in contrast with worldwide epidemiological data. Finally, the several genes involved in inflammation are located on the X-chromosome, which also contains high number of immune-related genes responsible for innate and adaptive immune responses to infection. Summarizing, X-heterozygous females might activate a mosaic advantage and higher sexual dimorphism than males to counteract CoV-2 infection progression, and unexpectedly, higher ACE2 levels, or ACE/ACE2 rebalancing, might ameliorate COVID-19 outcome being protective against CoV-2 fatality.

Biography:

Eleni Petsalaki has completed her PhD at the age of 28 years at the University of Crete. She is currently a post-doctoral research scientist in Dr George Zachos’ Cell Cycle and Division Lab at the University of Crete where she is investigating mechanisms of mitotic cell division in human cells. She has published 8 papers in peer reviewd journals including Nature Communications, Journal of Cell Biology, Journal of Cell Science and others, 2 review articles and 2 commentaries.

Abstract:

 

The mitotic spindle consists mainly of microtubules (MTs) and is essential for accurate distribution of chromosomes in the two daughter cells during cell division. Errors in spindle formation can lead to incorrect separation of chromosomes or unequal size of daughter cells, which are associated with carcinogenesis or developmental disorders. However, the molecular mechanisms of spindle formation are not fully understood. In the present study, we show for the first time that Chk1, a kinase involved in the cellular response to DNA damage, is essential for optimal density and effective polymerisation of the spindle MTs in human cells. Chk1 localises to the centrosomes (the main centers of MTs organization) in mitosis and phosphorylates β-tubulin in newly identified sites in vitro. Also, reduced microtubule density in cells without functional Chk1 is associated with formation of disorganized spindles. We suggest that Chk1 phosphorylates β-tubulin to promote optimal spindle MT polymerisation. These findings describe novel mechanisms that could protect against carcinogenesis and developmental disorders, through regulating formation of the mitotic spindle.

Biography:

Bei Xue is a PhD student of Shantou University Medical College (SUMC), majoring in immunology. Now she is performing part of her PhD project in Dalhousie University as a visiting research student.

Abstract:

Human endogenous retroviruses (HERVs), suspected to be transposition-defective, are more likely to reshape the transcriptional network of the human genome by regulatory elements distributed in their long terminal repeats (LTRs). HERV-K (HML-2), the most preserved group with the least accumulation of mutations, has been documented to be involved in tumorigenesis and autoimmune diseases. Because of the high sequence similarity between different HERV-Ks, current methods have limitations in providing genome-wide mapping specific for HERV-K (HML-2), a major barrier in delineating HERV-K (HML-2) function. In an attempt to obtain detailed distribution information of HERV-K (HML-2), we utilized a PCR-based target enrichment sequencing protocol for HERV-K (HML-2) (PTESHK) loci, which not only maps the presence of reference loci, but also identifies non-reference loci, enabling determination of the genome-wide distribution of HERV-K (HML-2) loci. Here we report on the genomic data obtained from three individuals (3 replicates each). We identified a total of 978 loci using this method, including 30 new reference loci and 5 non-reference loci. Among the 3 individuals in our study, 14 polymorphic HERV-K (HML-2) loci were identified,and solo-LTR330 and N6p21.32 were identified as polymorphic for the first time. Interestingly, PTESHK provides an approach for the identification of the genome-wide distribution of HERV-K (HML-2) and can be used for the identification of polymorphic loci. Since the integration polymorphism of HERV-K (HML-2) is suspected to be one of the reasons for their pathogenicity, PTESHK can supplement other emerging techniques in accessing polymorphic HERV-K (HML-2) elements in cancer and autoimmune diseases.

Irina Poverennaya

Vavilov Institute of General Genetics RAS, Moscow, Russia

Title: Is there any intron sliding in Vertebrata?

Time : 14:40-15:00

Biography:

Irina Poverennaya had completed her Specialist’s Diploma and graduated with honors in Lomonosov Moscow State University, Faculty of Bioengineering and Boinfromatics in 2013. Currently she works as bioinformatician and young researcher in Vavilov Institute of General Genetics of Russian Academy of Science and Institute of Mathematical Problems of Biology RAS.

Abstract:

Three main evolutionary events in eukaryotic gene structures are intron gain, loss and sliding. The last one means the change of intron position over several nucleotides. Due to its ambiguous molecular mechanism and rarity of occurrence, the existence of intron sliding could still be debatable. Here we analyzed 36 genome pairwise alignments of vertabrates, including human, rat, chicken and zebrafish in search of intron sliding events. The thorough comparison of exon-intron boundaries in the pairwise genome alignments from UCSC Genome Browser showed that the sliding is indeed very rare - the maximum number of hits for each analyzed pair of organisms does not exceed 20. In addition, comparison of gene annotations from different databases called into question almost half of all cases. To confirm that the found sliding events are not being the result of gene annotation errors we used transcriptome data from UCSC Genome Browser. We found out that majority of sliding events predicted by alignments seemed to happen in the low frequency isoforms, as we were not able to confirm them by transcriptome data. Only several cases were partially supported by transcriptome (e.g. sliding in EIF1AX gene between human and sheep) which leaves the question open whether the sliding occurs at all. The study was funded by RFBR according to the research project № 18-34-00932.