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Translation
Human Genetics Exam 1
| Term | Definition |
|---|---|
| translation | translating a nucleic acid sequence (a genotype) into an amino acid sequence to make a protein (a phenotype) |
| free ribosomes | found in the cytosol |
| attached | found on the ER |
| A-site (ribosome binding sites) | arrival site |
| P-site (ribosome binding site) | polypeptide site |
| E-site (ribosome binding site) | exit site |
| codon | sequence of 3 adjacent nucleotides that determine a specific amino acid |
| start codon | the first codon of mRNA is always AUG which always encodes for methionine |
| stop codon | the last codon of mRNA signals the termination of synthesis, is either UGA, UAA, or UAG |
| synonymous codons | different codons that specify the same amino acid (ex: leucine= UUA, UUG, CUU, etc.) |
| leader sequence | 5' untranslated region on mRNA upstream of initiation codon |
| initiation complex made up of: | small ribosomal unit, mRNA, tRNA + amino acid (methionine) |
| components of amino acids: | amine group (NH2), carboxylic group (COOH), r-group side chain |
| cystinosis | lysosomal storage disease, abnormal accumulation of cystine, cystine accumulates in lysosomes, results in crystallization throughout the body |
| primary protein structure | the linear amino acid sequence |
| secondary protein sequence | the structure resulting from the interactions between amine and carboxyl groups |
| tertiary protein structure | the structure resulting from the interactions between R-groups |
| quarternary protein structure | structure is when 2+ polypeptides are bonded together |
| chaperone proteins | help stabilize and fold proteins into their correct form |
| ubiquitin | protein that essentially tags another protein for destruction |
| proteosomes dismantle: | proteins that are misfolded, in excess, pathogen proteins |
| Alzheimer disease | gene of chromosome 21, plaques on nerve cells block signaling, apoptosis, and inflammation |
| familial amyotrophic lateral sclerosis | single amino acid change, sticks to central nervous system, nerve cell withers, muscles get no signal |
| Huntington disease | expanded glutamine codon repeats, protein aggregates in cell nucleus= decline in walking and speaking cognition |
| Parkinson disease | protein found in presynaptic terminals, amyloid fibers develop slowly= shaking, rigidity |
| Lewy body dementia | proteins deposit in nerve cells, Alzheimers and Parkinsons |
| PKU | missense mutation |
Created by:
lainey2790
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