Lesson 13 - 10\/13\/16 - Genes Inherited diseases are due to miss-functioning proteins Alkaptonuria black urine Garrod discovered it was caused by an

Lesson 13 - 10/13/16 - Genes Inherited diseases are due to...

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Genes Inherited diseases are due to miss-functioning proteins Alkaptonuria - black urine Garrod discovered it was caused by an inheritable enzyme deficiency Homogentisate oxidase - breakdown pathway of phe and tyr Factor VIII a blood clotting factor, leads to hemophilia Heritable phenotypes are related to enzymes/proteins Enzymes are encoded by genes Gene discrete portion of a chromosome - encodes a polypeptide Central Dogma - gene expression Gene expression - conversion of information in DNA to functional protein Direction of information flow - classic view Genes can encode functional RNAs Transcription - copying the message from DNA to RNA, the start of gene expression DNA Huge, many genes each gene encodes one thing Single gene gets copied to RNA, more easily transportable, if anything happens it’s no big deal Template vs. Coding strand Template - template strand of gene encoded in DNA Enzyme - RNA polymerase Components - ribonucleotides Prokaryotic first RNA pol - large enzyme with multiple subunits One nucleotide at a time 5’ → 3’ Transcription initiation RNA pol holoenzyme binds to promoter - promoter binding aligns polymerase to read template strand and begin at transcription start site
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