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CH 8 Genetics
Using Mutations
| Question | Answer |
|---|---|
| What is complementation? | quick idea on how to define what a particular gene is and what phenotype it is contributing to |
| Complementation Group | a group of mutations that occur in different genes but are unable to "complement" each other, meaning they fail to restore normal function when combined |
| How is a gene defined? | a segment of DNA that is the basic unit of heredity, providing instructions to build a functional product like a protein or RNA molecule. |
| A gene gets transcribed into ____ then __________ into DNA> Central Dogma | RNA, translated |
| How are genes organized on a chromosome? | linearly, with each gene occupying a specific fixed location (locus) |
| What is a typical size for a gene? | size varies greatly with human's genes ranging from a few hundred to over 2 million base pairs. |
| 500 base pairs = | shortest which specify histone proteins |
| 2 million nucleotide pairs = | longest in the Duchenne muscular dystrophy gene (DMO gene) |
| Amino Acid | the basic building block of proteins |
| Cells link amino acids together by ________ bonds to form long chains called ____________, which fold into functional proteins | peptide,, polypeptides |
| Basic Structure of Amino Acid | formula is NH2-CHR (-COOH) |
| What makes each amino acid different from one another? | The R group side chain |
| What does the R group determine? | The amino acid’s size, charge, chemical reactivity, and polarity. |
| How many common amino acids are there? | 20 |
| What is a peptide bond? | the chemical link that connects amino acids together in a protein chain. (strong covalent bond) |
| Where does the peptide bond form? | b/t the carboxyl group (–COOH) of one amino acid and the amino group (–NH₂) of the next. |
| Missense mutation | change in a base (substitutes one amino acid for another) |
| Nonsense mutation | the base leads to the production of the stop codon. |
| Frameshift mutation | nucleotide insertions or deletions that alter the genetic instructions for polypeptide construction by changing the reading frame. |
| primary structure | sequence of amino acids |
| secondary structure | alpha helices and beta sheets |
| tertiary structure | 3D (has hydrogen bonds, electrostatic, hydrophobic, and disulfide bridges that help stabilize) |
| quaternary | complex of subunits that make it a multimer (3D configuration). two or more polypeptide chains (subunits) come together to form one functional protein |
| Quaternary structures are usually composed of ___ subunits like ___________ | 4, hemoglobin |
| primary structures are held together by _________ bonds | peptide |
| secondary structures are held together by ___________ bonds | hydrogen |
| Tertiary and quaternary structures are held together by _______, ________, ________________, and _______________ bonds | hydrogen, ionic, hydrophobic, disulfide |
| What are chaperones? | They are helper proteins that are usually heat shock proteins that help stabilize the native conformation and ensure proper folding. |
| Transcription is The biochemical process that | copies DNA into intermediary molecules called messenger RNA (mRNA). |
| What enzymes are involved in transcription? | RNA polymerase and Helicase. |
| Translation is the interpretation of triplets in the | mRNA into the amino acids of a growing protein. (transfer RNAs)… |
| What enzymes are involved in translation? | aminoacyl-tRNA synthetase (charges tRNAs) and the ribosome’s peptidyl transferase activity, which forms peptide bonds to build the protein |
| What two steps form gene expression? | Transcription and Translation |
| What is gene expression? | The pathway through which genes produce RNAs and or proteins. |
| What is a codon? | groups of three nucleotides How many are there? 64 potential codons that can be read. |
| What is a reading frame? | Ribosomes can read 3 codons at a time. |
| Example of a reading frame : stretch of DNA: AGUUCAG --> how could this be divided to read? | AGU/UCA/G or can read A/GUU/CAG but these would be totally different amino acids if read in different places of the strand |
| Why is the genetic code considered degenerate? | because more than one codon codes for the same amino acid, providing a built-in safeguard against mutations |
| What is a stop codon? | Signal translation to end & Stop codons do NOT code for amino acids |
| What is a start codon? | that begins translation and codes for methionine. |
| Example of stop codon: | UAA, UAG, and UGA |
| example of start codon: | AUG |
| Why is the genetic code almost universal, but not quite? | it’s shared by almost all organisms, but minor exceptions occur in a few species and organelles that interpret some codons differently |
| 1. Any given segment of a genome could have ___ possible reading frame(s) in a single strand of the DNA. | 3 |
| T/F These interactions are NOT involved in maintaining tertiary structure in protein molecules: covalent bonds, hydrogen bonds, hydrophobic bonds, electrostatic bonds. | False, all of these may be involved in tertiary proteins |
| T/F Nonsense codons are start codons | False, they are codons that don't code for an amino acid |
| In a polypeptide, what level of structure refers to a localized region that takes on a particular geometry? | secondary structure |
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