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Gene Expression
Human Genetics Exam 1
| Term | Definition |
|---|---|
| exocrine cells | release digestive enzymes |
| endocrine cells | secrete hormones into the blood |
| proteomics | study of the protein products formed from gene expression in a particular cell, tissue, organ, or body under certain conditions |
| promoter | DNA sequence where transcription by RNA polymerase begins |
| enhancer | DNA sequence that when bound by TF, enhance transcription |
| activator | transcription factor ---> binds enhancer region ---> increases gene expression |
| repressor | TF ---> binds silencer region ---> decrease gene expression |
| silencer | DNA sequence that when bound by TF, shuts off transcription |
| when chromosomes are condensed: | no transcription occurs |
| acetylation | increases transcription, acetylase adds acetyl groups to lysine, gives it a negative charge |
| methylation | decreases transcription, methyl groups bind cytosine, proteins shut off DNA access |
| phosphorylation | increases transcription by promoting acetylation, adds phosphate groups to serine, gives it a negative charge |
| Alpha Thalassemia | undermethylation, can't make the right hemoglobin chain, anemic |
| ICF Syndrome | undermethylation of DNA repeats, unstavle centromeres, immune deficient |
| Rett Syndrome | fail to remove acetyls from histones, neurodegeneration, seizures, motor loss |
| Rubinstein-Taybi Syndrome | inappropriately adds acetyl groups, intellectual disability, broad toes/thumbs |
| gene expression after you die: | increase in inflammation, immune, stress genes, embryonic development genes, cancer causing gene |