Human Genetics Exam 1
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
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| exome | all of the genomes exons (1.5% of DNA)
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| exons | gene encoding region of DNA
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| retroviruses | transcribe RNA into DNA
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| flu, polio, hepatitis | viruses that use RNA to make proteins
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| prions | proteins that replicates themselves
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| mRNA | encodes amino acid sequence (size:500-4500 nucleotides)
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| rRNA | associates with proteins to form ribosomes (size:100-3000 nucleotides)
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| tRNA | transport amino acids to ribosome for protein synthesis (size:75-80 nucleotides)
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| snRNA | splice pre-mRNA (splicing)
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| miRNA and siRNA | regulate the expression and degradation of mRNA
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| snoRNA | covalently modifies rRNA (regulation)
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| stems | complementary base pairing (H-bonding) between nucleotides on the same tRNA molecule
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| loops | areas of non-complementary nucleotides on the same tRNA molecule
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| anticodon | loop area of tRNA that is complementary to an mRNA codon
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| amino acid acceptor | the area opposite of the anticodon, strongly bonds to a specific amino acid
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| transcription factors | proteins that initiate and regulate transcription of genes;link the genome to the environment
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| RNA polymerase | an enzyme that helps to produce mRNA (transcripts); constructs RNA chains using DNA as a template
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| promoter | specific sequence that signals that start of a gene (always at the 5' end)
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| TATA binding protein | first transcription factor to bind, attracted to the TATA box
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| pre-initiation complex made up of: | TATA binding protein, transcription factors, RNA polymerase
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| activator | transcription factor that binds enhancer region
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| enhancer | region of DNA upstream or downstream of the promoter that binds the activator, needed to start RNA polymerase transcription
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| repressor | transcription factor that binds the silencer region
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| silencer | region adjacent to enhancer region, prevents RNA polymerase from activating and prevents the gene from being transcribed to mRNA
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| terminator sequence: | AATAAA
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| in termination (step 3) : | RNA polymerase dissociates, DNA double helix re-anneals
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| DNA template strand | sequence is the complement of the growing RNA strand
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| DNA coding strand | sequence is identical to the RNA strand (except T becomes U)
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| 5' cap | backward "G", methyl group added recognition site for translation
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| 3' tail | 200 "A's", for protein synthesis and stability
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| excision of introns | introns cut out, exons are pasted together
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| spliceosome | made up of 4 snRPS, cut out introns and glue exons together
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| alternative splicing | creates isoforms, allows for more diversity of proteins
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| proofing | makes sure mRNA is not too short or long and is the right sequence
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| pre-mRNA | a long transcript created by the transcription of protein encoding genes
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| spliceosome job: | binds cuts between intron/exon, removes introns, and covalently links exons
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| mature mRNA | once pre-mRNA is spliced, capped, edited, and tailed, it becomes this
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| constitutive exons | exons that are always found in the mature mRNA in all cell types
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| alternative exons | exons that are added to vary the protein product in different cell types
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| Rett Syndrome | neuromuscular disorder, mostly affects girls, mutated transcription factor MECP2 on chromosome X
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| Treacher Collins Syndrome | RNA polymerase disease, affects development of bones/tissue of face, mutation of rRNA in ribosome formation
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