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Biochem and medical genetics

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Question
Answer
RNA polymerase   show
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show DNA - deoxyribose sugar, double stranded, contains thymine RNA - ribose sugar, single stranded, contains uracil  
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Direction of RNA synthesis   show
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Different forms of RNA polymerase   show
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Different RNA functions   show
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show General transcription factors recognise specific sequences (promotors) located upstream of genes to be transcribed GTFs bind to the promotor sequences and recruit the correct RNA polymerase  
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show Each polymerase as a set of associated GTFs that they require to be pulled towards DNA They provide enzymatic activity to unravel DNA Pol I - TF I x e.g. TFIA Pol II - TF II x e.g. TFIIF Pol III - TF III x e.g. TFIIIB  
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Core promotors   show
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Role of TFIIH in transcription   show
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Other factors needed for RNA pol II transcription   show
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Co-activators   show
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show Direct activation of Pol II Use gene specific transcription factors e.g. recognise sequence common in GTFs and regulate when they bind to the TATA box  
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show Locus control region - regulates expression of a cluster of genes to ensure correct sequence of expression Enhancer - activates expression over long distances Silencer - represses transcription at promotors Insulator - regulate expression between genes  
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show DNA protein and protein-protein interactions Proteins create circular structures to being far away elements close together Allows proteins/elements at enhancers to be closer to their gene Can regulate ability of GTFs to associate with promotor  
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show Tightly wrapped DNA regions containing inactive genes Cannot be accessed by GTFs Nucleosomes are tightly packed and associate with additional heterochromatin proteins bound to modified histone tails Histones are hypoacetylated and methylated at H3, K9  
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Euchromatin   show
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Modification of Histone tails   show
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show Mostly contains high copy number tandem DNA repeats Microsatellites spread through chromosomes' Centromeres made of satellite DNA Telomeres made of minisatellite DNA (long TTAGGG repeats) centromeres/telomeres are permanently heterochromatic  
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X inactivation in mammals   show
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show regulates gene expression High CpG methylation frequency Important for imprinting, transposon silencing and X-inactivation Cancers have changing methylation patterns Accessible chromatin unmethylated Methylated DNA reduces TF affinity  
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How does DNA methylation occur   show
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show Methylated DNA Heterochromatin Methylated histones Tightly compact chromatin by binding of other proteins Organisation into nuclear lamina associated domains at the edge of the nucleus  
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show Unmethylated DNA Euchromatin Unmethylated and acetylated histones Chromatin held open by other proteins Organisation into transcription factories in the centre of the nucleus  
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Example pathway of activating a gene   show
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show Largest subunit of RNA pol II has a structure at its C terminus of 52 repeats of seven amino acids YSPTSPS Phosphorylation of the serine residues is critical for the transition between initiation and elongation in transcription  
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RNA polymerase II transcription cycle   show
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