Regulation of gene expression III. tRNA synthesis, aminoacyl activation, translation, translation inhibitors, molecular genetics of deseases and diagnostic methods Downloaded from

The genetic code Downloaded from

The structure of transfer RNA Ψ: pseudouridineD: dihydrouridine Downloaded from

Activation of aminoacids Downloaded from

Comparison of ribosomes Downloaded from

Initiation of translation 1. Peptidyl- transferase 2. EF-G (translocase) Downloaded from

Elongation 1. EF-Tu + GTP= EF-Tu-GDP + Pi EF-Ts EF-Tu + GDP Important time delay for accuracy Downloaded from

Termination Binding of releasing factor to STOP Termination Downloaded from

Translation on the surface and processing in the lumen of ER Downloaded from

The recognition of signal peptide Downloaded from

Double transmembrane domain Stop-transfer sequence Start-transfer sequence Downloaded from

Multiple transmembrane domain Downloaded from

Differences in the pro-and eucaryotic mRNA Downloaded from

The procaryotic translation Downloaded from

Regulation of translation initiation dsRNA dependent protein kinase phosphorylates eIF, this inhibits initiation Viral interferon stimulated dsRNA dependent protein kinase (initial stage of infection:-RNA, +RNA or RNA:RNA hybrid) Reticulocyte protein kinase: inhibited by hem – no hem, no protein synthesis (90% globin) Downloaded from

The effect of antibiotics on procaryotic translation Steptomycin – inhibition of initiation, misreading of the code (resistance: mutation in the S12 ribosomal protein) Neomycin, gentamycin similarly Tetracycline – inhibits a. ac. tRNA binding to ribosome Chloramphenicol – inhibits pepidyl transferase Downloaded from

Eucaryotic translation specific inhibitors Puromycin – prevents tRNA binding to ribosome and incorporates into peptide chain, cause premature termination Cycloheximide – specific for eucaryotes, chloramphenicol-like effect Diptheria (corynebacterium exotoxin) the elF2 is inactivated by ADP-ribosilation made by the toxin Downloaded from

DNA chip Green: less than average exp. red: more than average exp. black: close to average exp. Differential analysis of mRNA levels of 1800 genes on cDNA array Downloaded from

Differential analysis of protein expression pH2pH12 Downloaded from

Fluorescence-activated cell sorter Downloaded from

Sequencing I Downloaded from

Sequen cing II. Downloaded from

Sequencing III. Downloaded from

RNA interference Downloaded from

Genetic diseases 4000 diseases have genetic base 10% of hospitalised children Many chronic diseases have genetic component (diabetes melitus, athelosclerosis) Chromosomal - trisomy of 21 – Down’s syndrome (karyotype – chromosomal translocations – positional effect) Monogenic disorders (autosomal dominant – recessive – X-linked) Multifactorial dirorders (ishemic heart disease, hypertension) Downloaded from

Pedigree analysis T to A change in the  -globin gene – sickle cell anemia SS homozygous AS heterozygous (prenatal) AA homozygous Downloaded from