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exome
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Human Genetics Exam 1

TermDefinition
exome all of the genomes exons (1.5% of DNA)
exons gene encoding region of DNA
retroviruses transcribe RNA into DNA
flu, polio, hepatitis viruses that use RNA to make proteins
prions proteins that replicates themselves
mRNA encodes amino acid sequence (size:500-4500 nucleotides)
rRNA associates with proteins to form ribosomes (size:100-3000 nucleotides)
tRNA transport amino acids to ribosome for protein synthesis (size:75-80 nucleotides)
snRNA splice pre-mRNA (splicing)
miRNA and siRNA regulate the expression and degradation of mRNA
snoRNA covalently modifies rRNA (regulation)
stems complementary base pairing (H-bonding) between nucleotides on the same tRNA molecule
loops areas of non-complementary nucleotides on the same tRNA molecule
anticodon loop area of tRNA that is complementary to an mRNA codon
amino acid acceptor the area opposite of the anticodon, strongly bonds to a specific amino acid
transcription factors proteins that initiate and regulate transcription of genes;link the genome to the environment
RNA polymerase an enzyme that helps to produce mRNA (transcripts); constructs RNA chains using DNA as a template
promoter specific sequence that signals that start of a gene (always at the 5' end)
TATA binding protein first transcription factor to bind, attracted to the TATA box
pre-initiation complex made up of: TATA binding protein, transcription factors, RNA polymerase
activator transcription factor that binds enhancer region
enhancer region of DNA upstream or downstream of the promoter that binds the activator, needed to start RNA polymerase transcription
repressor transcription factor that binds the silencer region
silencer region adjacent to enhancer region, prevents RNA polymerase from activating and prevents the gene from being transcribed to mRNA
terminator sequence: AATAAA
in termination (step 3) : RNA polymerase dissociates, DNA double helix re-anneals
DNA template strand sequence is the complement of the growing RNA strand
DNA coding strand sequence is identical to the RNA strand (except T becomes U)
5' cap backward "G", methyl group added recognition site for translation
3' tail 200 "A's", for protein synthesis and stability
excision of introns introns cut out, exons are pasted together
spliceosome made up of 4 snRPS, cut out introns and glue exons together
alternative splicing creates isoforms, allows for more diversity of proteins
proofing makes sure mRNA is not too short or long and is the right sequence
pre-mRNA a long transcript created by the transcription of protein encoding genes
spliceosome job: binds cuts between intron/exon, removes introns, and covalently links exons
mature mRNA once pre-mRNA is spliced, capped, edited, and tailed, it becomes this
constitutive exons exons that are always found in the mature mRNA in all cell types
alternative exons exons that are added to vary the protein product in different cell types
Rett Syndrome neuromuscular disorder, mostly affects girls, mutated transcription factor MECP2 on chromosome X
Treacher Collins Syndrome RNA polymerase disease, affects development of bones/tissue of face, mutation of rRNA in ribosome formation
Created by: lainey2790
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