This subject analyzes the structure of hereditary material and the functioning of genes and genomes in eukaryotes, bacteria and viruses. The structure of DNA and its properties are described in order to understand its behavior as genetic material. The implication of this structure in the transmission of DNA is analyzed, and the different molecular techniques for analysis and manipulation of genetic material are described. The bases of gene expression and its regulation in prokaryotes and eukaryotes are established. The variations in DNA, its repair and the implications of the change at a pathological and evolutionary level are analyzed in detail. Special emphasis is placed on human pathologies derived from genetic alterations as well as on the study of the human genome.



This subject is based on the knowledge acquired by students in the Genetics subject of the first semester, in addition to other basic subjects such as Cellular Biology, Biochemistry and Microbiology. The contents are also related to specific topics in Genetics, such as Genetic Engineering and Genomics. The contents worked on serve as a basis for the optional Genetics subjects of the Degree.

Molecular Genetics is basic for the professional and/or research practice of Bioscience graduates.

1. Students know the organization of hereditary material, mainly the structural differences of prokaryotic and eukaryotic genes and genomes.

2. They understand the processes that allow the maintenance and transfer of the information contained in DNA, as well as the molecular and pathological implications of its changes.

3. They understand the need for the regulation of gene expression in time and space and the differences between prokaryotic and eukaryotic organisms.

4. They understand and use the basic techniques for analyzing genetic material and apply them to design simple experiments and/or to solve specific current problems.

5. They know, critically evaluate and use the various sources of information through new technologies to obtain, organize, interpret and communicate scientific information related to the subject under study.

NATURE AND STRUCTURE OF HEREDITARY MATERIAL

Topic 1.- Identification of hereditary material. Requirements of hereditary material. Demonstration of nucleic acids as hereditary material. Primary and secondary structure of DNA and RNA.



Topic 2.- Physical-chemical characteristics of hereditary material and basic analytical techniques: DNA extraction and purification, Absorbances, Denaturation-renaturation (hybridization), Molecular separation (centrifugation and electrophoresis), Modifications through the use of enzymes, PCR and sequencing.



Topic 3.- Composition and organization of genomes. Viral and bacterial genomes. Plasmids. Organelle genomes. Genomes of eukaryotes.



Topic 4.- Anatomy of prokaryotic and eukaryotic genomes. Sequences in prokaryotic genomes: prokaryotic gene structure. Types of sequences in eukaryotes: coding vs non-coding; repeated vs single sequence; sequences with structural function. Eukaryotic gene structure.



REPLICATION AND MUTATION OF HEREDITARY MATERIAL

Topic 5.- Replication and recombination. Semiconservative replication. Replicative structures: the theta model; the rolling circle model; the D-loop model. DNA synthesis in E. coli, enzymatic model. DNA synthesis in eukaryotes. Replication in telomeres and function of telomerase.



Topic 6.- Gene mutation. Mutation as a random event. Types of mutations. Molecular mechanisms of spontaneous and induced mutations by physical and chemical agents.

Detection of mutagenic agents: Ames Test. Repair mechanisms.



Topic 7.- Mobile genetic elements. Types of transposable elements and transposition mechanism in prokaryotes. Types of transposable elements and transposition mechanism in eukaryotes. Mutagenic effects of transposons.



GENE EXPRESSION AND REGULATION

Topic 8.- Transcription in prokaryotes and eukaryotes. General characteristics of transcription in prokaryotes and eukaryotes. Mechanism of initiation, elongation and termination of transcription in monocistronic and polycistronic genes of prokaryotes. Transcription in eukaryotes: RNA polymerase I, II and III and cis and trans elements. Mechanism of transcription initiation, elongation and termination in eukaryotes; histones in transcription. Maturation of RNAs and splicing.



Topic 9.- Translation and the genetic code. Characteristics of the genetic code. Translation process in prokaryotes and eukaryotes: initiation, elongation and termination. Characteristics of proteins. Proteome.



Topic 10.- Fundamentals of expression regulation in prokaryotes. A general perspective: positive/negative control, inducible/repressible system. The lactose inducible system: positive and negative control of lac operon transcription. The repressible tryptophan system: negative control of transcription of the trp operon and control of translation by attenuation.



Topic 11.- Fundamentals of expression regulation in eukaryotes. Levels and stages of regulation of gene expression. Chromatin conformation. Specific transcription activators: response elements to hormones, metals, tissues. Alternative promoters, alternative splicing and alternative poly-A tail. Posttranscriptional and translational regulation. RNA silencing.



ADVANCED TOPICS IN MOLECULAR GENETICS

Topic 12.- Introduction to Genomics. Genome sequencing and annotation strategies. Metagenomics. Analysis of genome variability. Other omics: transcriptomics, proteomics, metabolomics, epigenomics.



Topic 13.- Cancer genetics. General characteristics of cancer. Proto-oncogenes and tumor suppressor genes. Hereditary predisposition to cancer. Non-coding RNAs (lncRNAs and miRNAs). Genomic analyzes and clinical applications derived from knowledge about cancer.



Topic 14.- Genetic Engineering and biotechnological applications of recombinant DNA: Definition and objectives. General gene analysis and manipulation system. Control of the expression of heterologous genes. Applications in basic research and biotechnology. Gene therapy.



Practice program



P1.- Genotypic and population analysis of the Alu insertion in the tPA gene using PCR and forensic applications.

P2.- Detection and characterization of species in processed meat samples using multiplex mtDNA PCR.

P3.- Mutagenesis assays (I): Harlequin chromosomes and Sister Chromatid Exchange (SCE).

P4.- Mutagenesis test (II): Ames test.

S-1.- Identification of mutations and experimental design for their identification in human diseases.

S-2.- Molecular basis of human genetic diseases

Various teaching modalities are used in this subject:

- In the master classes, theoretical concepts and their application to problem solving are worked on.

- In seminar classes, classroom practices and laboratory practices, you work as a team. In these teaching modalities, the experimental design, the resolution of practical cases and the molecular bases that determine the appearance of genetic pathologies are delved into.

• Continuous Assessment System
• Final Assessment System
• Tools and qualification percentages:
  • Written test to be taken (%): 20
  • Multiple-Choice Test (%): 20
  • Realization of Practical Work (exercises, cases or problems) (%): 20
  • Team projects (problem solving, project design)) (%): 40

CONTINUOUS ASSESSMENT

In this evaluation system, laboratory practices and seminars are mandatory.

This evaluation system includes an individual final exam and various tests that are carried out in groups:

(1) The final written test has a value of 60% in the final grade and consists of test questions (20%), short questions (20%) and two problems to solve (20%). You must obtain at least 4 points in each section.

2) The written tests carried out in groups and that are part of the continuous evaluation include resolution of theoretical and practical problems and the delivery of reports related to the experimental work carried out in the laboratory and seminar sessions (40%).

The evaluation of group activities will be individualized based on the level of commitment and personal involvement with the group work carried out. The minimum grade will be 5.



FINAL EVALUATION

In the case of final evaluation, students must submit in writing to the teaching staff responsible for the subject the waiver of continuous evaluation within a maximum period of 9 weeks from the beginning of the subject.

If you choose this evaluation system, questions about laboratory practices and seminars will be included in the final exam.



ACADEMIC ETHICS

During the development of the evaluation tests, the use of books, notes or notes, as well as telephone, electronic, computer, or other devices or devices by students, will be prohibited. Only a calculator is allowed. In any case of dishonest or fraudulent practice, the provisions of the protocol on academic ethics and prevention of dishonest or fraudulent practices in evaluation tests and academic work at the UPV/EHU will be applied.



CALLS

For students subject to both continuous and final evaluation, it will be enough to not take the final test for the final grade of the subject to be "not presented" or "not presented.

In the extraordinary call the final grade will be established in the same way as in the ordinary call. If the continuous evaluation provides negative results, the final test will be 100% of the subject.



ACADEMIC ETHICS

During the development of the evaluation tests, the use of books, notes or notes, as well as telephone, electronic, computer, or other devices or devices by students, will be prohibited. Only a calculator is allowed. In any case of dishonest or fraudulent practice, the provisions of the protocol on academic ethics and prevention of dishonest or fraudulent practices in evaluation tests and academic work at the UPV/EHU will be applied.



CALLS

For students subject to both continuous and final evaluation, it will be enough to not take the final test for the final grade of the subject to be "not presented" or "not presented."

The teachers will provide the students with the following material:

THEORY SCHEMES AND COLLECTION OF FIGURES to facilitate the monitoring of classes on theoretical content.
PROBLEM COLLECTION: this collection will be the basic material for learning case resolution; It will be used in the classroom during master classes and must be used by the student as material for personal work.
LABORATORY PRACTICE PROTOCOL: the objectives of each activity, its theoretical foundation, its technical development and some questions that each student must answer during or after completing the corresponding practice are included. Reading the protocol is mandatory before carrying out the corresponding practice.
All this documentation will be available to students in the virtual classroom of the subject.

Basic bibliography

*BENITO C., ESPINO FJ.(2012) Genética. Conceptos esenciales. 1ª Ed. Médica Panamericana

*BROOKER R.J. (2012) Genetics. Analysis & Principles. 4th edition McGraw Hill. www.mhhe.com/brooker

*HERRÁEZ A. (2012) Biología Molecular e Ingeniería Genétic. 2ª ed. Elsevier

*GRIFFITHS AJF, WESSLER SR, CARROLL SB, DOEBLEY J (2015) An introduction to genetic analysis. 11th edition. FREEMAN AND CO (978-1429229432)

*HARTL DL, JONES EW (2011) Genetics. Analysis of Genes and Genomes. Jones and Bartlett Publishers 8/e. (ISBN: 978-1449635962)

*HARTWELL L, GOLDBERG L, FISCHER JA, HOOD L, AQUADRO CF (2010) Genetics. From Genes to Genomes. 5nd edition. McGraw-Hill (ISBN-978-0073525310)

*KLUG, WILLIAM S; CUMMINGS, MICHAEL R.; SPENCER, CHARLOTTE; PALLADINO MICHAEL A. (2008). Concepts of Genetics. 9ª edición. Pearson Higher Education. http://www.aw-bc.com/klug/

*PIERCE B.A. (2014) Genética. Un enfoque conceptual. 5ª ed. Editorial Médica Panamericana

*PIERCE,B.A. (2015) Genetics Essentials: Concepts and Connections. (3rd Ed.). W. H. Freeman and Co. ISBN: 1464190755

In-depth bibliography

*BROWN T.A. (2007) Genomes 3. 3rd edition. Garland Science Publishing.
*LEWIN B. (2009) Genes IX. Jones and Bartlett Publisher
*STRACHAN, T., READ, A. (2010). Human Molecular Genetics. 4rd ed. Garland Publishing.

Journals

Nature Review Genetics
Nature
Science
PLOS Genetics,
G3: Genes-Genomes-Genetics,
BioMedCentral
Heredity
Trends in Genetics

Web addresses

http://www.ncbi.nlm.nih.gov/omim
http://www.ncbi.nlm.nih.gov/pubmed
https;//www.ensembl.org
http://www.bioinformatics.nl/primer3plus
http://www.geneclinics.org/
http://www.biologia.arizona.edu/molecular_bio/problem_sets/Recombinant_DNA_Technology/recombinant_dna.html
http://www.accessexcellence.org/RC/VL/GG/
http://www.dnaftb.org/
http://web.ornl.gov/sci/techresources/Human_Genome/education/index.shtml
http://www.genome.gov/GlossaryS/