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Download Positional Information of Genomic Sequence (Refseq Gene: Hg38) and Common Snps (Snp147common: Hg38) in the Region of Interest Abstracts medgen 2017 · 29:86–192 DOI 10.1007/s11825-017-0126-6 Topics Online publiziert: 23. Februar 2017 © Springer-Verlag Berlin Heidelberg 2017 Keynote Lecture Workshops (W1-9) WS1 Monogenic Disease WS2 Cancer Genetics I Plenary Sessions (PLEN) WS3 Enhancers, Modifiers and Rare Variants Plen 1 WS4 Intellectual Disability Plen 2 WS5 Technology WS6 Complex Genetics WS7 Clinical Genetics Symposia (S1-6) WS8 Cancer Genetics II WS9 Basic Mechanisms and Epigenetics S1 Studying Genetic Diseases with iPSCs and Organoids S2 Intracellular Organelles and their Diseases S3 Huntington Disease Poster (P-) S4 Consequences of Human Germline Variations S6 The Genetic and Epigenetic Basis of Obesity P-BasEpi 001–029 P-Basic Mechanisms and Epigenetic S6 Genomics of Immune Mechanisms P-CancG 030–049 P-Cancer Genetics P-ClinG 050–115 P-Clinical Genetics, Genetic Counselling and Prenatal Diagnosis Selected Presentations (SEL1-4) P-Compl 116–126 P-Complex Diseases, Population & Evolutionary Genetics and Genetic Epidemiology P-CytoG 127–135 P-Cytogenetics and CNVs Sessions P-MonoG 136–169 P-Monogenic Diseases – Educational Session 1 from Gene Identification to Molecular Educational Session 2 Mechanisms Pro & Contra I P-Techno 170–180 P-Technology and Bioinformatics Pro & Contra II P-Therap 181–184 P-Therapy for Genetic Diseases Talk nach 12 DFG-Workshop Oral History Projekt Qualitätsmanagement-Workshop SHG-Session 86 medizinische genetik 1 · 2017 Vorträge Plenary Sessions Keynote Lecture Plen 1 X chromosome structure and regulation Human Olfactory Receptors: Their role in odor perception and as C. M. Disteche new targets for diagnosis and therapy Departments of Pathology and Medicine (Medical Genetics) University of Washington Seattle WA98195, USA H. Hatt Department of Cellphysiology, Ruhr-University Bochum, Bochum, Germany Complex mechanisms of dosage compensation regulate the mammalian X chromosome due to the presence of one copy in males (XY) and two Scents indicate things, make promises, attract attention and stimulate im- in females (XX). X inactivation silences one X chromosome in females in agination, feed anxieties and hopes: they are the salt in the atmospheric early development, leading to specific epigenetic and structural changes. soup. We regard seeing and hearing as more important sensory functions, The inactive X chromosome becomes condensed and forms a bipartite because they contribute more to conscious, cognitive processes of percep- structure within the nucleus, as we have shown by chromatin conforma- tion – but at moments of the greatest enjoyment we close our eyes and tion analyses. Specific long non-coding RNAs are implicated in the forma- taste the scent, smell the taste. Before the spirit and beauty of a person can tion of this unique structure. The inactive X chromosome is preferentially fascinate us, our nose must become infatuated. located near the lamina or the nucleolus. Genes that escape X inactivation The olfactory system in the nose acts as a window, monitoring environ- tend to be located at the periphery of the condensed inactive X chromo- mental chemical information and convert chemical stimuli in electrical some. Such genes are more highly expressed in females, and thus associ- nerve impulses which are conducted along the olfactory sensory neuron to ated with sex-specific differences manifested even in early development. their glomerular target in the brain. Olfactory receptors (ORs) activation We have found that significant sex bias in gene expression are associated shows the distinguished (cAMP-based) transduction pathway for odorant with escape from X inactivation in human tissues from normal males and perception. In 1991 Buck and Axel discovered the olfactory gene family, females, and in tissues from individuals with sex chromosome aneuploidy, the largest gene family in the human genome, and postulated an exclusive including Turner or Klinefelter individuals. expression in the olfactory epithelium. However, recent whole genome sequencing data from our and other labs show that ORs have been found Plen 2 in every tissue of human body which was analyzed by next generation sequencing. The importance of such ectopic expression of ORs is raised The identification and characterization of mutations causing since the physiological function of some of ORs was characterized. When neurodevelopmental diseases identifying additional expression profiles and functions of OR in non-ol- D. B. Goldstein factory tissue, there are limitations posed by the deorphanization of ORs Institute for Genomic Medicine, Columbia University Medical Center, New concerning the activated ligands and by the small number of antibodies York, USA available. In contrast to the olfactory sensory neurons which are believed to express all 350 functional OR genes (only one OR type per cell), cells in A central challenge in human disease genetics is the identification of path- non-olfactory tissues tend to express more than one individual OR gene ogenic mutations. One key approach to distinguishing benign and patho- per cell. In addition, some of the signaling pathways in non-olfactory tis- genic mutations is to use population genetic data to identify regions of the sues seem to involve completely different components in comparison to human genome under purifying selection. Here I describe how the resid- the olfactory neurons. ual variation intolerance scoring framework has been applied to identify- What is the functional role of these ectopically expressed olfactory recep- ing pathogenic mutations in and outside protein encoding regions of the tors? Evidences rapidly accumulate that ORs participate in important cel- genome. Next I report how these are related approaches are being used to lular processes outside its primary sensorial organ where they function in identify pathogenic mutations in large-scale scale studies in epilepsy and odor detection and discrimination. In our lab the functional expression other neurodevelopmental diseases. Finally, I discuss how the identifica- of the first was demonstrated in spermatozoa (2004). In the meantime we tion of genetic causes of disease can inform treatment choices. could show the existence and function of ORs in the cardiovascular system (heart, blood cells), the gastrointestinal system (small intestine, liver, pan- creas), the genito-urinary system (kidney, testis, spermatozoa, prostate), Symposia the respiratory system (lung, smooth muscle cells), the skin (keratinocytes, melanocytes) and sensory organs (retina). Interestingly we found a broad spectrum of important functions like cell-cell communication and recog- S1-01 nition, tissue injury, repair and regeneration, cancer growth, progression Modeling disorders of sterol biosynthesis with reprogrammed and metastasis, nutrient sensing and muscle contraction. Nevertheless the stem cells: New insight into lipid-protein interactions, disrupted functional importance of ectopic ORs is still not sufficiently understood. signaling mechanisms, and cellular phenotypes Studies seeking to determine the function of ectopic ORs are still in its in- fancy and require further intensive exploration. However, the potential of K. Francis ORs to serve a target for a wide range of clinical approaches is indeed giv- Principal Investigator – The Children’s Health Research Center, Sanford en. This hold promises that the knowledge gained by future investigations Research, Assistant Professor – Department of Pediatrics, Sanford School of would lead to deepen our understanding of OR function in health and Medicine, The University of South Dakota, USA disease and may provide the basis for the development of applications in Autosomal recessive disorders of cholesterol synthesis constitute a group of diagnosis and therapies in near future. malformation syndromes that severely affect nervous system development and function, including Smith-Lemli-Opitz syndrome (SLOS) and latho- sterolosis (LATH). While reduced cholesterol content due to mutations within the cholesterol synthetic enzymes 3β-hydroxysterol Δ7-reductase (DHCR7; SLOS causative) and 3β-hydroxysteroid Δ5-desaturase (SC5D; LATH causative) is common to these disorders, broad cellular and pheno- typic differences of unknown origin exist both between and within patients diagnosed with these diseases. Thus, while the associated biochemical de- medizinische genetik 1 · 2017 87 Abstracts fects are well defined, neither the specific mechanisms underlying neu- expressing CTIP2, a cortical layer V marker, exhibited an increase in total rological abnormalities nor the role of decreased cholesterol versus sterol dendritic length and number of dendritic spines compared to TD neurons, precursor accumulation in disease pathogenesis have been clearly delin- which was in agreement with the results obtained from WS cortical lay- eated. To identify cellular phenotypes and causative signaling pathways, er V neurons in post mortem brain. These findings in WS neurons offer we derived induced pluripotent stem cells (iPSCs) from SLOS and LATH new insights into the haploinsufficiency effect in cortical layer V neurons subjects to model these diseases in vitro. SLOS subjects were known carri- whose role is implicated in social behavior, suggesting an increase in neu- ers of the most common DHCR7 mutations, including the intronic splice ronal activity that could possibly be linked to hypersociability observed in acceptor mutation c.964-1G>C and the missense mutation p.T93M. While WS individuals. We demonstrated that iPSC technology holds great
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