Recent achievements in genetics. - MB140P19
Title: Novinky v genetice
Czech title: Novinky v genetice
Guaranteed by: Department of Genetics and Microbiology (31-140)
Faculty: Faculty of Science
Actual: from 2025 to 2025
Semester: summer
E-Credits: 1
Examination process: summer s.:
Hours per week, examination: summer s.:1/0, Ex [HT]
Capacity: unlimited
Min. number of students: 3
4EU+: no
Virtual mobility / capacity: no
State of the course: not taught
Language: Czech
Level: specialized
Additional information: http://dl2.cuni.cz/course/view.php?id=249
Note: enabled for web enrollment
the course is taught as cyclical
Guarantor: RNDr. Michaela Schierová, Ph.D.
Incompatibility : MB140P19E
Is incompatible with: MB140P19E
Opinion survey results   Schedule   
Annotation -
The lecture expands on the basic course with current topics, primarily including new developments in the following areas:

Dosage compensation in sex chromosomes and regulation of X-chromosome inactivation in mammals.
Gene therapy.
Gene interactions and regulatory mechanisms of the TP53 tumor suppressor gene.
Immunogenetics: the principle of genome reorganization in B lymphocytes and extreme polymorphism of MHC antigens.
Association studies in humans: identification of genes influencing quantitative traits.
Oogenesis: recombination, aneuploidy, DNA repair, and the maternal age effect – impact on embryogenesis.

The content of the lecture will be supplemented by student presentations.
Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Requirements to the exam

Exam, option  1: oral or written  (according to your preference).

You will choose 1 topic from these 6 ones, you get 2-3 questions to this  (0-45 points)

Option 1 is available only for students who are present at least at 4 lectures (the student presentation date is not included)! and who prepare a presentation.

 

 Exam , option 2: in case you do not prepare your presentation:

You will choose 1 topic from these 6 ones, you get 2-3 questions to this +

1 topic will be selected by random (0-45 points each topic)

 

You can get extra- points for assignments ( max. 25 points in total) and for presentation over recent genetic topic (max. 30 points)

GRADING:

70-100 excellent

50-69   very good

35-49   good

Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Syllabus -

X inactivation: X inactivation and embryology,The Inactivation center XIC, basic functional elements – mainly Xist, Escape genes , Skewing in X inactivation

Gene therapy: Principles, main features, CRISPR Cas9 applications,iPSC and gene therapy, Vectors, SElected examples of gene therapy protocols

Tp53: gene structure, mutations, p53 functions, regulation and interactions (MDM2, ARF, ATM, histon acetyl transgferase)

Immunogenetics: MHC (Major histocompatibility complex) antigens - hyper-polymorphic genes, haplotypes, population genetics, Antibody coding genes: B lymphocytes: specific gene structure and gene arrangement, Hypermutation, Allelic exclusion, T cell receptor genes, CAR-T antigens

GWAS: Definition, SNP genotype and phenotypic effect, The usage for quantitative traits, Main parametres of GWAS, Result analysis, Examples of GWAS

Oogenesis and aneuploidy: Age-Related Chromosome Segregation Errors: cytoskeleton or chromosome defects: Time effect - cohesins, Spindle, absence of centrosomes, Cross over efficiency,, Oplasma volume and SAC inefficiency (Spindle Assembly Checkpoint ), Oocyte maturation and its regulation, Main results of preimplantation analyses

Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Learning outcomes -

Upon successful completion of this course, the student:

1. Lyonization and X-Chromosome Regulation

  • Describes the differences in 3D structure, gene expression, and epigenetic chromatin modifications between the active (Xa) and inactive (Xi) X chromosomes.
  • Explains the X-chromosome counting mechanism involving the Rnf12 factor and the role of escape genes (genes bypassing inactivation).
  • Defines the term X-skewing and analyzes the causes and consequences of non-random inactivation within the organism.
  • Proposes an experimental genome modification (e.g., in a mouse model) designed to selectively influence the probability of inactivation for a specific parental X chromosome.

2. Gene Therapy

  • Distinguishes between the principles and strategic approaches in the therapy of autosomal dominant (AD) and autosomal recessive (AR) disorders.
  • Categorizes gene therapy methods based on the delivery route (in vivo vs. ex vivo), vector type, and mechanism of action (direct vs. suppressor therapy).
  • Evaluates the criteria and risks necessary for the approval and initiation of a new gene therapy approach in human medicine.
  • Analyzes specific cases of gene therapies from scientific literature and identifies the primary technological and biological obstacles to their implementation.

3. Oogenesis and Aneuploidy

  • Explains the molecular causes of the maternal age effect on the increased frequency of aneuploidy in offspring.
  • Interprets the limited functionality of the Spindle Assembly Checkpoint (SAC) in oocytes and its impact on genomic stability.
  • States the relationships between the frequency and distribution of recombination sites (crossing-over) and the risk of chromosomal mis-segregation.
  • Compares the progression and consequences of standard meiosis with the mechanism of reverse meiosis.

4. The p53 Tumor Suppressor and Cellular Regulation

  • Distinguishes the impact of gain-of-function and loss-of-function mutations in the TP53 gene on the process of oncogenesis.
  • Describes the structural organization of the TP53 gene and lists the key post-translational modifications of the p53 protein that affect its stability and activity.
  • Analyzes the p53 regulatory network and explains the interactions with MDM2, ARF, and ATM proteins and the effector protein p21.
  • Applies skills in working with bioinformatics databases (e.g., COSMIC) to determine mutation frequency and the functional impacts of changes in p53 pathways.

5. GWAS and the Genetics of Complex Traits

  • Explains the principle of Genome-Wide Association Studies (GWAS) and clarifies the relationship between identified polymorphisms (SNPs) and actual causative genes within the context of linkage disequilibrium.
  • Proposes a GWAS analysis strategy for a specific phenotype (e.g., blindness, obesity).
  • Classifies the architecture of complex traits and compares genetic determinism across different diseases (e.g., diabetes vs. body weight).
  • Considers the advantages and disadvantages of performing GWAS in humans compared to model organisms.

6. Immunogenetics

  • Identifies the main features of genes encoding antibodies and explains the mechanisms (e.g., V(D)J recombination) through which the extreme diversity of the immune response is achieved.
  • Compares the structure and function of MHC Class I and MHC Class II gene products.

 

Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Entry requirements - Czech

Dobrý den,

přednášky budou ve čtvrtek, od 9:00 do 10:40, v seminární místnosti katedry genetiky a mikrobiologie, Viničná 5, přízemí vpravo. Na konkrétních termínek 6 dalších přednášek se dohodneme při první přednášce. Účast na přednáškách je doporučená - 60% účast je podmínkou zkoušky ve variantě A.

Budete mít k dispozici Moodle stránku s prezentacemi a úkoly -
https://dl2.cuni.cz/course/view.php?id=5888

Heslo: Novinky 2025

Last update: Schierová Michaela, RNDr., Ph.D. (12.02.2025)