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Reproductive sciences

Gene and Enviroment

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Gene and Enviroment

Péter Sótonyi, MD, PhD, DSc

Professor, Member of the Hungarian Academy of Sciences

The research group previously demonstrating derivative chromosome 15 in four healthy members of a three-generation family has achieved the exact mapping of the chromosome 15 fragment. It gained verification that approximately half of the small supernumerary marker chromosomes (sSMC) originate from the near centromeric region of chromosome 15 (15p-q11-13). Considering cases in which such supernumerary chromosomes contain euchromatic fractions, the sSMC carrying individuals may be symptom free, but may also be mentally retarded or affected with the Prader-Willi and Angelman syndrome. The tetrasomy of this chromosome region may cause severe disorders of both the nervous system and behaviour, as well as fertility problems (oligospermia, azoospermia).
In collaboration with the Genetic Institute of the Szeged Biology Center of the Hungarian Academy of Sciences, studies with high resolution fluorescence in situ hybridization (FISH) technique have determined the breakpoint which is responsible for the development of the supernumerary pseudodicentric isochromosome (der 15). Location of the chromosome fracture leading to development of sSMC was defined with 10 kb accuracy, found in the 15q11.2 subregion in a neurofibromatous pseudogene. It was established that the tetrasomy of the 15p-q11.2b region involving the 19.4 million base pairs studied does not cause clinical symptoms, i.e. duplication of this region of chromosome 15 does not result in any phenotypic alterations. By means of detailed sequence analyses, the research group was successful in demonstrating that chromosome 15 carries extended segmental duplications in the 15q11.1-15q13.1 (18.2-27 Mb) region, which may play role in the frequent structural changes of this chromosome region.

KEYWORD(S): gene, enviroment, tetrasomi, duplikation,

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KEYWORD UNIVERSE: CO2-sensitivity, GTPase activating proteins - GAPs, NADPH oxidase - NOX2, NADPH oxidase, Neutrophilic granulocytes, TASK, TRESK, aging, apoptosis, asthma, autonomic neuropathy, autoregulation, avian, bioinformatics, blood-brain barrier, c, calcineurin, calcium, cancer, cell biology, cell fusion, cerebral blood flow, cerebral blood volume, complement, dendritic cells, diabetes, dopamine, duplikation, early restenosis, embryo, embryomanipulation, endoplasmic reticulum, endothelium, enviroment, epidemiology, exercise, gene expression, gene, genetics, hydrogen peroxide, hypothalamus, immunology, in vitro fertilization, inflammation, ischemia-reperfusion, liver, lupus nephritis, lymphoid tissue, medicinal chemistry, metabolic bone disease, mitochondria, molecular biology, neuronal plasticity, neuroprotection, oral biology, oxidative stress, pathology, pathophysiology, peroxidase, phagocytes, pharmacokinetics, physiology, potassium channel, reactive oxygen species, receptors redox homeostasis, regulation, signal transduction, small GTPases, stem cell, stress, stroke, superoxide, tetrasomi, tissue engineering, transplantation,

Research Areas

Behavioural sciences

	Clinical Psychiatry Research Group
	Mental Health Research Group
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Biochemistry, cell biology, biophysics

	Chaperone and Network Group
	Drug Target Interactions Unit
	Endoplasmic Reticulum Research Group
	Functional Protein Dynamics Laboratory
	Hemostasis Group
	Laboratory of Cell Biology, Section of Vascular Neurology
	Laboratory of Ion Channel Research
	Laboratory of Molecular Endocrinology
	Pathobiochemistry Research Group
	Signal Transduction Laboratory

Dental sciences

	Molecular Oral Biology Research Group
	Salivary Research Laboratory

Experimental and clinical immunology and genetics

	Acute Phase Reaction Research Group
	Clinical Genomics Unit
	Experimental Renal Research Group
	Immunogenomics and Immunomics
	Immunology Laboratory of Pulmonary Diseases
	Inflammation Immunology Group
	Laboratory of IF and Genetics
	National Angioedema Center
	Research Group of Immunogenetic and Complement Investigations
	Research Group of Inflammation Biology and Immunogenomics

Experimental and clinical oncology

	Laboratory of Tumor Biology
	Molecular Therapy Laboratory
	Proteoglycan Research Group

Internal medicine and pediatrics

	Clinical Nephrology Research Group
	Clinical Research Laboratory
	Diabetes and Metabolism Study Group
	Division of of Haematology
	Endocrinological Research Group
	Hepatology Unit
	Lipid and Atherosclerosis Research Group
	Molecular Genetic Unit
	Neuropathy Research Group
	Pediatric Nephrology Research Group
	Pediatric Research Group
	Research Group of Metabolism and Clinical Genetics
	Unit of Molecular Mechanisms of Gastroenterological Disorders

Medicine of sensory organs

	Corneal and Refractive Surgical Unit
	Glaucoma Clinical and Research Group
	Laboratory of Corneal Wound Healing
	Ocular Surface and Cornea Laboratory

Miscellaneous

	Biochemical Research Group
	Heart Center
	Photocarcinogenesis, Photodermatology Unit
	Sleep Medicine Unit

Molecular biology, microbiology

	Antibiotic Resistance Research Unit
	Genetics Unit
	Laboratory of Molecular Genetics

Morphological sciences (anatomy, pathology, forensic medicine)

	Developmental Biology Laboratory
	Laboratory of Experimental Liver Pathology
	Liver Pathology Research Unit
	Oncohaematology Laboratory

Neurosciences

	Clinical Neurophysiology Laboratory
	Immunohistological Laboratory
	Laboratory of Cell and Molecular Biology
	Laboratory of Comparative Neurocytology and Neuroethology
	Molecular and Cellular Neuroendocrine Research Laboratory
	Neurobiochemical Research Group
	Neurochemical Research Unit
	Neuroendocrine Research Laboratory
	Neuromorphological and Neuroendocrine Research Laboratory
	Reproductive Neuroendocrinology Laboratory
	Research Group for Stroke and Dementia
	Sleep Research and Psychophysiology Group

Pharmaceutical sciences, pharmacology

	Application of Bioanalytical Methods in Pharmaceutical Research
	Biochemical Pharmacology Unit
	Gastroenterological Research Laboratory
	Medicinal Chemistry Research Group, Rational Drug Design Laboratory
	Opioid Research Group
	Research Group for Drug Profiling and Analysis
	Research Group of Phytochemistry and Pharmaceutical Biotechnology
	Research Laboratory for Organic and Medicinal Chemistry
	Stability Research Group

Physiology, pathophysiology

	Cardiovascular and Volume Homeostasis Research Group
	Cerebrovascular Signaling Research Group
	Clinical Cardiovascular Laboratory
	Immunology of Renal and Vascular Diseases Group
	Inflammation Research Unit
	Laboratory of Cerebrovascular Research
	Laboratory of Molecular Endocrinology
	Laboratory of Reactive Oxygen Species Research
	Laboratory of Tissue Engineering
	Laboratory of Vascular Physiology
	Molecular Biology Laboratory
	Nephrology Research and Training Center
	Phagocyte Research Group

Reproductive sciences

	Division of Assisted Reproduction
	Gene and Enviroment

Sport sciences

	Research Institute of Sport Science
	Research Laboratory of Biomechanics

Surgery (operative sciences)

Unit of Pelvic Floor Dysfunction