Protein Synthesis, Gene Expression, and Mutations

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Vocabulary flashcards covering key terms from the lecture on protein synthesis, gene expression, and mutations.

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50 Terms

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DNA

The hereditary molecule housed in the nucleus that carries genetic information.

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Chromosome

Tightly packed DNA structure containing many genes.

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Gene

A sequence of DNA that codes for a single protein.

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Genome

All the genetic information of an organism.

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Transcription

Process of copying DNA into an RNA strand.

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RNA Processing

Eukaryotic modification of pre-mRNA by capping, tailing, and splicing to produce mature mRNA.

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Translation

Decoding mRNA to build a polypeptide chain in the cytoplasm.

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Central Dogma

Flow of genetic information: DNA → RNA → Protein.

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RNA

Ribonucleic acid; usually single-stranded and contains ribose and uracil.

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Messenger RNA (mRNA)

RNA copy that carries genetic instructions from nucleus to ribosome.

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Transfer RNA (tRNA)

RNA that delivers specific amino acids to the ribosome during translation.

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Ribosomal RNA (rRNA)

RNA that combines with proteins to form ribosomes and catalyze protein synthesis.

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Promoter

DNA sequence where transcription factors and RNA polymerase bind to start transcription.

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Transcription Factor

Protein that regulates transcription by helping RNA polymerase bind to the promoter.

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RNA Polymerase

Enzyme that synthesizes RNA using a DNA template.

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Template Strand

DNA strand used by RNA polymerase to build complementary RNA.

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Codon

Three-nucleotide mRNA sequence that specifies an amino acid or stop signal.

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Anticodon

Three bases on tRNA complementary to an mRNA codon.

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Genetic Code

Set of rules by which codons specify amino acids; universal and redundant.

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Start Codon

AUG; signals beginning of translation and codes for methionine.

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Stop Codon

UAA, UAG, or UGA; signals termination of translation.

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Ribosome

rRNA-protein complex where translation occurs; has large and small subunits.

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A Site

Acceptor site on ribosome where incoming charged tRNA binds.

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P Site

Peptide site on ribosome holding the growing polypeptide chain.

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E Site

Exit site where empty tRNA leaves the ribosome.

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Initiation (Transcription)

Binding of transcription factors and RNA polymerase to promoter to begin RNA synthesis.

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Elongation (Transcription)

RNA polymerase adds RNA nucleotides in the 5′→3′ direction.

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Termination (Transcription)

RNA polymerase recognizes stop sequence and releases newly made RNA.

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Initiation (Translation)

Small ribosomal subunit, mRNA, and initiator tRNA assemble at the start codon.

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Elongation (Translation)

Sequential addition of amino acids as ribosome moves along mRNA.

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Termination (Translation)

Release factor binds to stop codon, freeing polypeptide and disassembling ribosome.

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Intron

Non-coding RNA segment removed during RNA processing.

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Exon

Coding RNA segment retained in mature mRNA.

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Spliceosome

Enzyme complex that removes introns and joins exons.

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5′ Cap

Modified guanine added to 5′ end of mRNA to aid ribosome binding.

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Poly-A Tail

String of ~150 adenines added to 3′ end of mRNA for stability and export.

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Point Mutation

Single base substitution in DNA.

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Silent Mutation

Point mutation that changes a codon to a synonym, leaving amino acid unchanged.

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Missense Mutation

Point mutation that replaces one amino acid with another in the protein.

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Nonsense Mutation

Point mutation creating a premature stop codon.

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Frameshift Mutation

Insertion or deletion altering the reading frame of a gene.

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Sickle Cell Anemia

Disease caused by a non-conservative missense mutation in the β-globin gene.

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Cystic Fibrosis

Autosomal recessive disorder often due to frameshift mutations in a chloride ion channel gene.

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Fragile X Syndrome

Genetic disorder caused by CGG repeat insertions on the X-chromosome leading to frameshifts.

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Thymine Dimer

Covalent linkage of adjacent thymines induced by UV light, potentially causing mutations.

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Ames Test

Bacterial assay used to identify chemical mutagens via reversion to histidine synthesis.

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Somatic Mutation

DNA change in non-reproductive cells; not inherited but can lead to cancer.

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Germ-Line Mutation

Mutation in eggs or sperm that can be passed to offspring.

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Teratology

Study of congenital malformations and their causes.

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Redundancy (in Genetic Code)

Feature where most amino acids are encoded by multiple codons, protecting against mutations.