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Bio 130 Midterm 2

TermDefinition
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
Created by: anyasalmon
 

 



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