lecture_6 - dario garcia Bio 499 Lecture 6 Human Genetics...

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dario garcia Bio 499 Lecture 6 : February 27, 2008 Human Genetics Speaker : Pat Arndt MOLECULAR GENETICS GENES in the molecular level It is the blueprint of how a protein is synthesized They are sequences of DNA They store and transmit information DNA (deoxyribonucleic acid) A linear polymer made up of deoxyribonucleotides (composed of deoxyribose, phosphate and a purine or pyrimidine base): it is double stranded and runs antiparallel Strands are aligned by hydrogen bonds discovered in 1871 by Freidrich Miescher proved as a genetic molecule in 1943 by Oswald Avery in 1953 Crick and Watson discover the helical structure of DNA with the use of Rosalin Franklin’s X-ray pictures Chromosomes DNA is compacted by wrapping itself around histone (proteins) octamers making a nucleosome These nucleosomes are then wound to form a 30nm filament The 30nm filament forms Loops these loops are then wound forming a mini-band unit of chromosome stacked mini bands make up a chromosome Thermodynamics of DNA DNA will denature at 95 ° C and re-anneal when cooled DNA replication Replicates during mitosis and meiosis using DNA polymerase DNA separates and each strand is used as a template to form new daughter strands RNA Single strand and not as stable as DNA Contains the purine Uracil instead of Thymine mRNA - exchanges information between DNA and protein in the nucleus tRNA and rRNA are involved in protein synthesis and occur in the cytoplasm miRNA and siRNA control gene expression Transcription – the process by which RNA is formed from DNA RNA polymerase synthesizes RNA by using a single strand of DNA and forming a complimentary strand Editing: The non-coding introns are removed leaving only the coding regions of RNA (exons)
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The mRNA transcript can be spliced in two different ways thus allowing for different proteins to be made from a single gene The mRNA is moved out to the cytoplasm and is now ready for translation Translation – protein synthesis Occurs at a ribosome The ribosome reads mRNA 3 bases at a time Codons are recognized by the tRNA’s Each reading of 3 bases codes for a specific amino acid which will form the corresponding protein sequence Single nucleotide substitutions can occur and have no effect making the same protein. However, it can also have a huge effect and make a different protein
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