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Bio 130 Midterm 2
| Term | Definition |
|---|---|
| n | number of types of chromosomes (number in a haploid cell) 23 in humans |
| 2n | total number of chromosomes (number in a diploid cell) 46 chromosomes total |
| female | XX |
| male | XY |
| homologuous pair | pair with the same type (size), one from mom, one from dad |
| diploid (2n) | contains two full copies of the genome (thus has homologous pairs of chromosomes) |
| haploid (n) | contains one full copy of the genome |
| gametes | egg and sperm, haploid cells |
| fertilization | fusion of egg and sperm |
| zygote | resulting diploid cell from fusion of two gametes |
| mitosis vs meiosis | mitosis - daughters are identical to original meiosis - daughters have half the DNA |
| sister chromatids | replicated chromosome, held together by centromere, looks like an x |
| interphase | G1: normal life, 46 chromosomes, 23 homologous pairs G2: DNA replication, 46 chromosomes, (92 sister chromatids), 23 homologous pairs |
| Meiosis I | first division |
| prophase I | tetrads form, 2 homologous pairs physically bound together crossing over happens at random |
| metaphase I | rope-like proteins called microtubules attach to each tetrad from both sides, pulling them from the middle of the cell random alignment of chromosomes - independent assortment (different orientations yield different gametes) |
| rope like proteins | microtubules |
| anaphase I | microtubules shorten, separating homologous pairs |
| telophase I/cytokinesis | cell splits in two |
| Mendel's first law | two alleles of the same gene could be pulled apart by anaphase and segregated into two gametes |
| prophase II | two haploid cells |
| metaphase II | chromosomes line up at metaphase plate |
| anaphase II | microtubules pull sister chromatids apart |
| telophase II/cytokinesis | split the cells, now we have 4 |
| complete dominance | the dominant gene will show (red over the white flower) |
| incomplete dominance | a mix of the two genes will show (pink flower) |
| co-dominance | both of the genes will be shown (red and white spotted flower) another example is blood type |
| random fertilization | random alignment - male makes 8 million different possible combinations, female makes 8 million too fertilization is a random selection from among those possible combos every human child is one of 64 trillion possible genetic combos from those parents |
| Y chromosomes | very few genes on it most relate to male determination/ male fertility males have one copy, females have zero |
| X chromosomes | a couple thousand genes (like most other genes) not only related to sex determination, but many things males have one (hemizygous) females have two copires (just like every other gene) |
| linked genes | inherited together because two genes are on the same chromosome |
| the father the part the gene is on a chromosome | the easier it is to split apart and thus more chance of cross over |
| A type blood | IA IA IA i |
| B type blood | IB IB IB i |
| AB blood | IAIB |
| O type blood | Ii |
| Rh present - dominant Rh factor absent - recessive | ++ or +- (positive blood, Rh present) -- (negative blood, Rh absent) |
| DNA is made of (3 parts) | phosphate group, deoxyribose group, and the base |
| phosphate group | contains the carbon with the 5' end |
| deoxyribose | contains the 3' end on oxygen |
| base | can be A, T, C, G |
| A goes with | T |
| C goes with | G |
| sugar phosphate | backbone of DNA |
| DNA vs RNA | DNA - double stranded, T, deoxyribose RNA - single stranded, U, ribose (one more oxygen than DNA) |
| Gene (DNA) --> _______ mRNA ---> _______ protein | transcription translation |
| transcription | RNA synthesis |
| transcription steps | RNA polymerase unzips one gene of chromosome RNA polymerase binds to promoter RNA nucleotides (A,T,C,G) match up with opposite nucelotides RNA polymerase seals them into one strand |
| promotor | TATAA |
| we use the template strand to make a copy of the | coding strand |
| can only build RNA from ___' end to ___' end | 5' end to 3' end |
| template strand is 3' to 5' which means the coding strand is | 5' to 3' (what you're copying) |
| actual transcriptional start site is usually about ___ base-pairs down from the promoter | 30 indicted with an arrow |
| MRNA PROCESSING splicing | removing introns |
| introns | what you splice out |
| extrons | what you use for coding |
| immature mRNA | has not left the nucleus into the cytoplasm, does not have cap poly (A) tail, or splicing |
| MRNA PROCESSING mature RNA | has cap, tail, and has been spliced, leaves nucleus into cytoplasm |
| MRNA PROCESSING 5' cap | guanine nucleotide that enables ribosomes to bind |
| MRNA PROCESSING 3' poly (A) tail | 150-250 adenine nucleotides added after poly (A) signal, needed for translation AAAAAAAAA |
| MRNA PROCESSING the cap and the tail also protect from | degradation |
| MRNA PROCESSING the region in between the cap and the tail is called the | coding region |
| translation | protein synthesis |
| codon | triplet of bases, codes for a specific amino acid |
| AUG | start codon |
| as soon as the new mature mRNA leaves the nucleus it | immediately starts getting translated |
| translation steps | small subunit of ribosome attaches a tRNA with an anticodon to its matching codon on the mRNA the large subunit of the ribosome comes in to bind the amino acids of the lined up tRNAs together stop codon, tRNA floats away, leaving a chain of amino acids |
| tRNA has both | amino acids and nucleotides bound to them |
| we can keep ____ mRNA strand to make the same proteins | reusing |
| large subunit of ribosome has three parts with three different functions | A site - ACCEPTOR site for a tRNA P site - PEPTIDYL site, where peptide bonds form E site - where tRNA strands without amino acids EXIT ribosome |
| step 1 of translation | 1. initiation small subunit of ribosome binds to mRNA, initiator tRNA binds to start codon, large subunit of ribsome binds |
| step 2 of translation | 2. elongation tRNA binds, peptide bond formation, translocation |
| step 3 of translation | 3. termination release factor binds to stop codon, used tRNAs released, ribosome subunits separate. |
| each amino acid has a different side chain | which is called an R group |
| electrically charged side chains (acids and bases) | acidic: Asp, Glu basic: Lys, Arg, His |
| polar side chains (partially charged) | have O's Ser, Thr Tyr, Asn, Gln |
| nonpolar side chains (not charged) | Have C's and H's Gly, Ala, Val, Leu, Ile, Met, Cys, Phe, Trp, Pro |
| amino acids are linked together through a | peptide bond formation (electrons sharing) C-N |
| proteins don't stay as long strands but instead | fold up into elaborate shapes because they make bonds ex: hydrogen bonds, ionic bonds, hydrophobic (nonpolar) bonds hide inside away from water |
| tetrad (bivalent) | 2 homologous pairs physically bound together |
| gene vs allele | A gene codes for a specific trait, while an allele is a specific version of that gene. the gene for eye color determines that trait, while the alleles are the specific variations like brown, blue, or green that give the trait its expression |
| genotype vs phenotype | genotype - genetic makeup phenotype - observable traits |
| heterozygous vs homozygous | Homozygous - two identical alleles for a particular gene (AA or aa) heterozygous - two different alleles for the same gene (Aa) |
| transcription factors | proteins that regulate gene expression by binding to specific DNA sequences and controlling the rate of transcription into RNA |
| enhancers | DNA regions that bind transcription factors (TFs) to increase the transcription rate of a gene |
| coding region vs regulatory region of DNA | coding region - instructions for building proteins regulatory region - controls when and where the coding region is turned on or expressed |
| ___ terminus to ____ terminus | N terminus to C terminus rhyme --> 5 to 3, N to C |
| shape of protein determines | function |
| if an enzyme substrate doesn't fit into the protein, then it can't carry out it's | function |
| peptide bonded backbone | the part of the amino acid that bonds to the other ones |
| mutations in the coding region | can change the protein's shape/function |
| mutations in regulatory region | change amount of protein made |
| mRNA tRNA rRNA | messenger RNA - transcription, genetic code translation RNA - brings amino acids ribosomal RNA - ribosome function and structure, binds tRNA and mRNA |
| transcription factors | proteins that tell whther to code or not to code for the genes, impacts transcription rates binds to DNA outside coding region |
| activators | transcription factors that that increase transcription turn in ON |
| repressors | transcription factors that decrease transcription turn it OFF |
| you have to have the correct _____ ______ in order to code for the correct gene | transcription factors |
| enhancers/silencers | DNA sequences that that the activators and repressors bind to tell the gene which genes to turn on and off because the transcription factors bind to it |
| simple Mendelian inheritance | dominant vs recessive traits single gene controls the trait |
| more complicated (non mendelian inheritance): pleiotrophy | one gene influences multiple traits (ex: a single mutation in the gene for sickle-cell disease affects blood shape, organ healthy, and immunity |
| more complicated (non mendelian inheritance): gene interaction | two or more genes interact to produce one trait (labrador retriever coat color, one for pigmen, one for pigment deposition) |
| more complicated (non mendelian inheritance): polygenic traits | many genes add together to produce one trait (human height, skin color, and weight) |
| more complicated (non mendelian inheritance): gene/environment interaction | the environment affects how genes are expressed (plants grow differently in sun vs shade, human weight influenced by diet/genes) |
| silent mutation | one codon is changed, still codes for same amino acid |
| frameshift mutation | one codon is added/deleted --> shift everything down, screwing up all amino acids |
| missense mutation | one codon is changed, codes for a new amino acid |
| nonsense mutation | changed to a stop codon, protein synthesis is stopped early |
| conservative replication (old hypothesis) | scientists originally thought that DNA stayed together and made a completely new double strand - disproven later on |
| semi-conservative replication | true method of DNA replication, 1 old strand and 1 new strand |
| helicase | enzyme that unzips and unwinds DNA by breaking hydrogen bonds |
| DNA polymerase | the enzyme that builds the new DNA by adding nucleotides |
| primase | enzyme that makes RNA primer so DNA polymerase knows where to start |
| replication bubble | opened section of DNA where replication is happening |
| replication fork | Y-shaped end of the replication bubble where DNA is being unzipped |
| leading strand | strand built smoothly and continuously (5 to 3) |
| lagging strand | built in short, separate pieces (runs 3 to 5) |
| okazaki fragments | the short pieces built on the lagging strand |
| telomeres | the protective end caps on chromosomes, get shorter each time cell divides |
| mitosis | G1 - cell grows S- DNA replication G2 - cell prepares to divide M phase : prophase - chromosomes condense metaphase - chromosomes line up in middle anaphase - sister chromatids pulled apart telophase - nuclei split cytokinesis - cell splits |
| mitosis vs meiosis | mitosis - identical body cells (growth) makes 2 cells cells are diploid (2n) meiosis - makes sex cells (gametes) produces 4 cells genetically identical cells are haploid (n) genetically unique |
| how many chromosomes in a human? | 46 |
| autosomes vs. sex chromosomes | first 22 pairs (44 chromosomes) are autosomes (non-sex) and the last pair (2 chromosomes) are sex chromosomes (X and Y) |
| mitosis vs meiosis | identical cells for growth unqiue gametes |
| interphase | G1 phase - growth, most of the cell's life, copying organelles if needed (G0 - stays in this phase, doesn't need to replicate, resting state) S phase: DNA replication, 10 hour process G2 phase: more growth/copying organelles, prep |
| we break the _____ _______ in order to do mitosis | nuclear envelope |
| prohase metaphase anaphase telophase eytonkinesis | prohase - no crossing over, no tetrads, just present metaphase - line up in middle, independent of each other anaphase - pulled apart by spindle fibers/microtubules telophase - split of nucleus eytonkinesis - split of cell |
| n | TYPES of chromosomes |
| 2n | TOTAL # of chromosomes |
| regulation of cell division | protein checkpoints to decide if we can go onto do mitosis or not |
| G1 checkpoint | should I divide? - reason to divide/signal from outside - enough nutrients/energy to divide - is cell big enough - DNA is undamaged (don't want to copy bad DNA) |
| G2 checkpoint | is DNA copied correctly? - chromosomes replicated correctly - DNA is undamaged/checks for mistakes in DNA |
| M checkpoint | spindle checkpoint - are the chromosomes lined up - are there spindle fibers on each one |
| if cell is damaged and does not pass checkpoints it can either... | self destruct (better to kill one cell, than make a ton of damaged ones) or wait and let it fix itself |
| tumor-suppressor genes | code for proteins that suppress/pause the cell cycle BRAKE PEDAL inactive --> cancer |
| proto-oncogenes | code for proteins that advance or stimulate the cell cycle GAS PEDAL overactive - get cancer |
| DNA damages checks 1 and 2 | ATM - detects double-stranded DNA breaks ATR - detects single-stranded DNA breaks when these are activated, they tell the cell cycle to STOP |