Recent achievements in genetics - MB140P19E

• Anglický název: Recent achievements in genetics
• Český název: Novinky v genetice
• Zajišťuje: Katedra genetiky a mikrobiologie (31-140)
• Fakulta: Přírodovědecká fakulta
• Platnost: od 2024
• Semestr: letní
• E-Kredity: 1
• Způsob provedení zkoušky: letní s.:
• Rozsah, examinace: letní s.:1/0, Zk [HT]
• Počet míst: neomezen
• Minimální obsazenost: 3
• 4EU+: ne
• Virtuální mobilita / počet míst pro virtuální mobilitu: ne
• Stav předmětu: vyučován
• Jazyk výuky: angličtina
• Úroveň: specializační
• Další informace: http://dl2.cuni.cz/course/view.php?id=249
• Poznámka: povolen pro zápis po webu
• Garant: RNDr. Michaela Schierová, Ph.D.
• Vyučující: RNDr. Michaela Schierová, Ph.D.
• Neslučitelnost : MB140P19
• Je neslučitelnost pro: MB140P19

Anotace

The course consists of six independent lectures giving the students idea about the recent trends in genetics. The main subjects of the lectures are:

1. Gene dosage compensation in sex chromosomes and regulation of X chromosome inactivation in mammals
2. Gene therapy
3. Gene interactions and mechanisms of regulation of the tumor suppressor gene TP53
4. Immunogenetics: the principle of genome reorganization in B lymphocytes, extreme polymorphism of MHC antigens
5. Association studies in humans: identification of genes affecting quantitative traits
6. Oogenesis - recombination, aneuploidy, DNA repair, maternal age effect - influence on embryogenesis.

In 2024-25, lectures will be held on Friday, from 9:00 to 10:40, in the lecture room B312, at Viničná 7, 3rd floor. We will plan the following dates of the 6 other lectures during the first lecture. Attendance at the lectures is recommended - 60% attendance is a condition for the exam in variant A. You will have a Moodle page with presentations and assignments available - https://dl2.cuni.cz/course/view.php?id=5889
Password: Genetics2025

Poslední úprava: Schierová Michaela, RNDr., Ph.D. (12.02.2025)

Požadavky ke zkoušce

This semester (2024/25) you will receive an assignment on 5 topics. Each assignment will be rated with a maximum of 5 points.

You will prepare a presentation in the field of genetics based on a current paper (year of publication no later than 2020). Your presentation will be rated with a maximum of 30 points.

 At the end of the semester there will be an exam, oral or written (your individual choice). You can get 45 points (a maximum).

Details will be explained in the first lecture, February 20 2025

Classification: 70-100 points: excellent 50-69 points: very good 35-49 points: good The exam is written or oral, according to your choice.

Poslední úprava: Schierová Michaela, RNDr., Ph.D. (06.02.2025)

Výsledky učení

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 Meiosis

• 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.

 

Poslední úprava: Schierová Michaela, RNDr., Ph.D. (07.01.2026)