Scientific program

Dec 05-06, 2022    Miami, USA

4th webinar on

Human Genetics and Genetic Disorders

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Keynote Forum

Byung Yoon Choi

Title: Identification of functional SNP of FASN related to lipid metabolism in Korean cattle

Abstract:

Identification of functional SNP of FASN related to lipid metabolism in Korean cattle

In Korea, intramuscular fat (IMF) or marbling in a cross-section of longissimus dorsi muscle area (LM) tissue of cattle is an important component of carcass traits that have an impact on grading of beef quality and determining the meat price. The deposition of fat is mainly determined by lipid metabolism, which indicates the balance between fat deposition and fat removal in the LM. Also, the lipid metabolic gene may contribute to fat deposition. Among these genes, fatty acid synthase (FASN) is a multifunctional enzyme in fatty acid biosynthesis. This complex catalyzes the synthesis of the saturated fatty acids using acetyl-CoA, malonyl CoA and NADPH. FASN is a homodimer of 250 kDa subunits and contains seven catalysis activities and the acyl carrier protein (ACP). Many studies had reported that g.841G, g.16024A, g.16039T and g.17924G SNPs had a significant impact on marbling score in Korean cattle and Japanese black cattle population. These SNPs is a non-synonymous SNP to change amino acid and is in transcription factor binding site and beta-ketoacyl reductase, thioesterase region. The aim of this study was to investigate the relationship between these SNPs of FASN gene and marbling score of longissimus dorsi muscular area in Korean cattle. Among these SNPs, the g.841G and g.17924G SNP had a significant impact on marbling score (P<0.001). Therefore, our result suggests that, g.841G and g.17924G SNP will be a causal mutation in fatty acid biosynthesis. But we need further research for validating causal mutation as a site directed mutagenesis.

Biography:

Byung Yoon Choi has his expertise in evaluation and passion in gene editing and plant synthetic biology for producing high-quality meat. He is currently working with genes. He is expertise within the synthesis and investigation of physical and chemical properties of Nucleic Acids and their analogs and derivatives. One of other areas of his interests are: determination of thermodynamic parameters of DNA complexes formation. Investigation of spatial (2D and 3D) organization of DNA and DNA-protein complexes using physical methods

Ilan Chet

Ilan Chet

Israel

Title: Estimates of Repeatability and Heritability of Egg Number in Sasso Hens in a Tropical Environment Abstract

Abstract:

Estimates of Repeatability and Heritability of Egg Number in Sasso Hens in a Tropical Environment

The aim of this study was to derive variance components, and hence, estimate repeatability and heritability of weekly egg production in Sasso hens. The birds, each with an identification number, were randomly selected and kept in individual battery cages which permitted open ventilation. Egg production records of thirty eight (out of the initial fifty four stocked) Sasso birds with consistency in lay from week 31 to week 38 of age were utilized for subsequent analyses. The effect of age (week) on egg production was determined using one-way analysis of variance (ANOVA) procedure. Means were separated using Duncan’s Multiple Range Test (DMRT) at 95% confidence interval. The components of variance were estimated using the PROC VARCOMP option of restricted maximum likelihood (REML) method of the General Linear Model (GLM) procedure to generate repeatability and heritability coefficients. The mean egg number per week was 3.51 with coefficient of variation of 19.0-23.4%. Egg production appeared to increase with age which was significant (P<0.05) from week 37-38. The variance component based on combined ages of the birds was 0.049 while that of the residual was 0.551. Repeatability estimate (R ± S.E.) was low (0.082 ± 0.011). However, the estimate of heritability (h2S ± S.E.) for egg number in the current population was moderate (0.326 ± 0.011). Based on the heritability coefficient, elite birds with the best average performance for week 31-38 of age could be selected as parents to produce offspring with optimal egg production.

Biography:

Ilan Chet is a full Professor, Vice Dean for Research at the George S Wise Faculty of Life Sciences, Tel-Aviv University, Israel. He received in 1992 a PhD in Molecular Biology from the Hebrew University, Israel and was a Post-doc 1992-1995 at NCI, NIH. He joined Tel-Aviv University as a tenure-track assistant professor in 1995 and is a full professor since 2008. He is an expert in the fields of antibody engineering, drug discovery and drug delivery with over the 20 years of being active in these fields, 92 peer reviewed articles and 11 patents.

Emine Kandemis

Title: Deficiency in ORC1 affects heterochromatin organization, sister chromatid cohesion and the response to DNA damage in Meier-Gorlin syndrome

Abstract:

Abstract:

Deficiency in ORC1 affects heterochromatin organization, sister chromatid cohesion and the response to DNA damage in Meier-Gorlin syndrome

DNA replication origins are licensed by the pre-replication complex, which encompasses six components of the origin recognition complex (ORC), CDT1, CDC6, and the MCM helicase. Mutations in pre-replication complex components have been shown to cause Meier-Gorlin Syndrome (MGS) a disorder characterized by microcephaly, short stature, and patellar abnormalities.  ORC components have also been shown to localize to heterochromatin and impact on the heterochromatin superstructure. Here, we show that deficiency in ORC1 in MGS patient cells impairs sister chromatid cohesion and formation of heterochromatin via a process we refer to as 'decompaction'. Comparison to other human cell lines with disordered chromatin, ICF (Immunodeficiency- Centromere instability-Facial anomalies syndrome) and RETT syndrome, revealed that the effect of Orc1 deficiency on heterochromatin structure is profound in human cell lines. Depletion of ORC1 by siRNA knockdown affects heterochromatin assembly and diminishes levels of HP1 and H3K9Me3.  Similar changes were observed in MGS patient cells with mutations in ORC1. We investigated the cohesion of sister chromatids using a fluorescent in-situ hybridization assay and observed an impairment in the cohesion of sister chromatids.  We examined aspects of the DNA damage response which are known to be sensitive to heterochromatin status to provide evidence for a functional impact of the disordered heterochromatin. Orc1 deficiency impairs DSB repair carried out by homologous recombination.  We suggest that these results can be explained by our 'decompaction' model. Where ORC1 deficiency leads to improperly structured heterochromatin.  These results suggest that ORC has a role in regulating heterochromatin structure and DSB repair by homologous recombination which is distinct to the role in origin licensing.

Biography:

Emine Kandemis completed her BSc studies in Medical Biology at Cerrahpa┼ča Medical School and pursued her MSc studies in Molecular Biology and Genetic Engineering at the University of Sussex. She attained her PhD from the University of Sussex. Her PhD Project involved in the investigation of genetic alterations in human breast and ovarian cancer. She had worked as a Post-doctoral research fellow at Kings College and Imperial College. She worked at the University of Sussex for 7 years as a research fellow and still collaborating with them for her research. She has been investigating the molecular mechanisms involved in the development of human diseases such as cancer and brain disorders. She has been working as an assistant professor at the Molecular Biology and Genetics Department of Biruni University since February 2017. She has been setting up the research and diagnostic laboratories at the Genome Centre employing advances technologies such as Next generation sequencing. In near future, she would like to focus on DNA damage and repair field where she gained extensive experience during her studies and research. She will employ these experiences to research into the broader area of genetic disorders.

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