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Main topics
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- Mendelian laws, inheritance of single genes (incomplete dominance, incomplete penetrance, dominance, codominance, X-linked inheritance, sex-influenced traits, sex-limited traits, lethal alleles, pleiotropy); the chromosome theory of inheritance.
- Gene interactions (epistasis, complementation, gene modification, redundant genes, intergenic suppression). Epigenetic inheritance: dose compensation and genomic imprinting; Regulation of X chromosome inactivation.
- Genetic linkage and gene mapping: linkage and crossing-over; linkage groups; recombinant phenotypes; gene mapping; interference; gene transfer and mapping in bacteria, conjugation.
- Structure and functions of DNA and RNA, their comparison.
- Structure of eukaryotic chromosomes: types of DNA sequences, structure of chromatin; chromatin compaction, euchromatin and heterochromatin.
- Telomere structure (telomere sequences, shelterin, telomerase); centromere, centromere chromatin; structure of metaphase chromosomes, cohesin and condensin.
- Bacterial DNA replication: replication initiation, DNA polymerases; polymerase reaction, replication termination, DNA replication complexes; DNA replication error correction mechanisms, DNA replication, and cell cycle.
- Eukaryotic DNA replication: eukaryotic DNA polymerases, chromatin and DNA replication, DNA replication in telomeres, telomerase.
- Transcription in bacterial cells: promoters; transcription initiation, elongation, and termination. Transcription in eukaryotic cells: eukaryotic RNA polymerases, their promoters and regulatory elements; RNA polymerase II and its transcription factors.
- RNA modifications (adaptation, 5’capping, 3‘tailing, splicing, base modification). Initiation of bacterial translation. Eukaryotic translation initiation; translation elongation and termination, polyribosomes.
- Transcriptional regulation in prokaryotes: operons (lac operon, ara operon, trp operon); promoter efficiency.
- Translational and post-translational regulation of bacterial genes: translation polarity, RNA-RNA hybridization, riboswitches, ribosome binding efficiency, codon selection, feedback inhibition, protein degradation.
- Regulatory eukaryotic transcription factors: activators and repressors, transcription factor structure feature, Myc-Max system; enhancers and silencers; TFIID and mediator; interactions between and within enhancers; gene regulatory networks.
- Chromatin and regulation of gene expression: chromatin compaction (covalent modifications of histones, ATP-dependent rearrangement of chromatin structure, isolators); histone variants.
- Chromatin remodeling; chromatin remodeling and transcription, enhanceosome; epigenetic regulation of gene activity in embryogenesis (thrithorax group and polycomb group regulatory proteins); DNA methylation; genetic imprinting; X chromosome inactivation in mammalian embryogenesis.
- Post-transcriptional regulation of eukaryotic gene activity: mRNA-modifying proteins, alternative splicing; mRNA degradation due to nonsense codon; RNA interference; miRNA in RNA interference.
- Translational and posttranslational regulation of eukaryotic genes. Comparison of regulation of eukaryotic and prokaryotic gene activity.
- Chromosome structure variability: deletions, duplications, inversions, translocations, position effect. Chromosome number variability: euploidy, aneuploidy. Natural and artificial changes in chromosome number: meiotic nondisjunctions, mitotic anomalies, mosaicism, interspecific hybrids.
- Gene mutations: classification; effects on genotype and phenotype; gene mutations in non-coding sequences, mutations due to trinucleotide repeat expansions.
- Occurrence of mutations and their causes: spontaneous and induced mutations, mutation rate and mutation frequency, causes of spontaneous mutations (depurination, deamination, tautomeric shifts);
- Chemical mutagens (base modifiers, base analogues, intercalating compounds), physical mutagens (ionizing and non-ionizing radiation), mutagenicity assessment methods; mutagenic carcinogens.
- DNA repair: direct repair; base excision repair; nucleotide excision repair; mismatch repair; recombinational repair; repair of actively transcribed DNA; translesion synthesis and error prone replication (SOS response).
- Human genetic diseases, types and characteristics of their inheritance; methods for the detection of genetic diseases. Genetic causes of cancer: oncogenes and tumor-suppressor genes; cell cycle control. Hereditary forms of cancer. Viral carcinogenesis.
- Homologous and site-specific recombination; gene conversion. Transposition, its types and mechanisms; hybrid dysgenesis and its mechanisms.
- Population genetics: polymorphic and monomorphic genes; frequencies of alleles and genotypes in populations; Hardy-Weinberg equilibrium; inbreeding; inbreeding, the inbreeding coefficient; allele frequency-changing neutral and adaptive factors; migration and gene drift; natural selection; balanced polymorphism; genetic load.
- Extranuclear inheritance: origin of mitochondria and chloroplasts; mitochondrial and chloroplast genomes; organellar inheritance mechanisms (homoplasia and heteroplasia); human hereditary mitochondrial diseases;
- Recombinant DNA, cloning and vectors: restriction endonucleases; bacterial vectors (plasmids, phage lambda, cosmids, bacterial artificial chromosomes, shuttle vectors); DNA libraries;
- Eukaryotic vectors: yeast vectors (2 micron plasmid, YEp, YIp, YCp, YAC); plant vectors (Ti plasmid); P elements as vectors; viral vectors.
- Methods for making recombinant mice; gene addition and replacement; target vectors;
- Genome editing: site-specific mutagenesis, ZFN (zinc finger nucleases), TALEN (transcription activator-like effector nucleases), CRISPR (clustered regularly interspaced short palindromic repeat) - Cas9 (CRISPR-associated nuclease 9). Gene therapy.
- Genetically modified organisms (GMOs) and their use: recombinant microorganisms, molecular animal husbandry, transgenic plants. Environmental and human risk assessment of GMOs.
- Genome research: DNA libraries; genomic sequence annotation, EST, gene identification in genomes; determination of protein interaction with DNA.
- Structure and research of the human genome: features of the human genome; human genetic diversity; comparative genome analysis, synteny.
- Molecular evolution: homologous genes (orthologs, paralogs), phylogenetic analysis; molecular clock; the origins of modern man, the genomes of archaic people; use of mitochondria and the Y chromosome for evolutionary studies; haplotype concept.
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Exam
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During the exam, the candidate answers three open questions. Passing score: 5. Knowledge and skills are evaluated with marks from 1 to 10. 10 (excellent) - excellent, exceptional knowledge and abilities; 9 (very good) - very good knowledge and abilities; 8 (good) - knowledge and abilities are above average (a student independently, reasonably, clearly states the essence of the given question, is well acquainted with the terminology of the taught subject); 7 (average) - average knowledge and abilities; there are few not essential mistakes (a student independently but incoherently and without justification sets out the essence of the question, uses the basic definitions of the subject); 6 (satisfactory) - knowledge and abilities are below average, there are mistakes (a student independently, but inconsistently, superficially, unclearly presents the essence of the question, understands the main definitions of the subject); 5 (weak) - knowledge and abilities meet the minimum requirements (a student independently but vaguely, without analysis, inconsistently presents the essence of the question, partially understands the basic definitions of the subject); 4,3,2,1 (insufficient) - the minimum requirements are not met.
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