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180 Cards in this Set

  • Front
  • Back
Asexual Reproduction
One parent gives to offspring that are IDENTICAL to the parent
Who uses Asexual Reproduction?
Prokaryote
single celled eukaryotes (yeast, euglenas)
single celled protists
multicellular (star fish plants)
What is the consequence of asexual reproduction?
All offspring are genetic equals (not much variation)
Sexual Reproduction
Two parents, offspring are different from each other and parents
The two phases of eukaryotic cell cycle
Interphase
Mitosis
What are the 3 subphases of interphase?
1) G1
2) S
3) G2
G1 (Gap 1)

3 things
1) before dna synthesis
2) increase in cell organelles
3) general growth
S (Synthesis)

3 things
1) DNA replication occurs
2) Chromosomes replicate and remain joined to their replicated partner (sister chromatids)
3) More cell growth
G2 (Gap 2)

3 things
1) After DNA synthesis
2) Increase in protein synthesis
3) General metabolic activity (making ATP) and growth
Mitosis (M) 4 subphases
1) prophase
2) metaphase
3) anaphase
4) telephase
90 percent of the cells time is in what phase?
Interphase
Interphase prcedes what two processes?
mitosis and meiosis
Prophase
4 things
1) DNA condenses (coils) becomes visiible in light microscope

2) Nuclear envelope and nucleolus disappear

3) spindle- begins to form (microtubules) --attaches to kinetochore, centrosome

4) sister chromatids (replicated chromosomes) move towards the equator of cell
This is what one end of a spindle joins to, its located at the centromere of each chromatid
kinetochore
The other end of a spindle joins to this microtubule organizing center?
centrosome
Metaphase "midway"
3 things
1) Sister chromatids are at metaphase plate (equator)

2) Spindle is completed

3) nuclear envelope is completely gone
If spindle fibers at the equator are not attached to chromatids, what are they attached to?
Other fibers originating at the opposite pole
Anaphase
3 things
1) sister chromatids seperate and become chromosomes and go to opposite poles

2) spindles shorten (attached to chromosomes)

3) spindles lengthen (attached to other fibers) causing the cell to elongate
When does telophase (cytoskinesis) begin?
once all chromosomes are at spindle poles
Telophase/cytokinesis
(4) things)
1) DNA- uncoil

2) Nuclear envelopes and nucleoli reappear

3) spindle disappears

4) cytokinesis cell divides into two
Cytokinesis (cell divides into two) in animals
"cleavage"
ring of microfilaments pinch cell in middle, and cytoplasm divides into two cells
Cytokinesis (cell divides into two) in plants
"Cell plate formation"

Fusion of vesicles filled with cell wall materials at the equator forms two cells
Two types of proteins that are "doers" of the cell cycle
1) kinases
2) growth factors
Kinases
enzymes that add phosphates to other proteins
Growth factors
proteins that activate various genes telling the cell to grow and divide
Two classes of "checkpoint" gene products (proteins) that regulate mitosis?
1) proto-oncogenes
2) tumor suppressors
Which checkpoint class is like the gas in a car?
proto-oncogenes
Which checkpoint class is like the brakes in the car?
tumor suppressors
3 major characteristics of all malignant neoplasms (cancers)
1) grow and divide abnormally
2) cytoplasm and plasma membrane become altered, cytoskeleton shrinks
3) weakened capacity to adhere
What kind of impact does cancer have on the developed world in terms of the cause of death?
causes 15-20 percent of all death
Why does a drug like taxol work to kill cancer cells?
It keeps microtubules from diassembling and hampers mitosis
How many new cases of breast cancer are diagnosed in the U.S. each year?
200,000
What kind of proteins are BRCA-1 and BRCA-2?
Tumor suppressor
Normall, BRCA proteins bind to receptors that then do what?
Regulate the transcription of growth factor genes
How is this process altered when there is a mutant BRCA protein?
Growth factors are overproduced because BRCA cannot bind to the receptors. Cell division goes out of control, and tissue growth becomes disorganized which leads to cancer
According to may sources including the American Society of Breast Surgeons, the risk of getting breast cancer if a woman inherits a mutant BRCA gene is what?
80 percent
What is the estimated risk of getting breast cancer for the average woman?
12 percent
Gamete
a sex cell(sperm or egg)
meiosis of diploid cell
Somatic cell
Any cell that is not a gamete
It is mitosis of a diploid cell
Homologous chromosomes
two chromosomes that are nearly identical (one from mom one from dad), same location, different "versions"
Autosomes
22 autosomes means 22 pairs of homologous chromosomes
Sex chromosomes
xx-female
xy-male
Which pair is the sex dermining pair in chromosomes?
23rd pair
Diploid cells
two sets of chromosomes (2n)
Haploid cells
A single set of chromosomes
Meisos: chromosomes number is reduced by?
one diploid cell gives rise to 4 haploid cells
What cells use Meiosis?
specialized diploid reproductive cells in testes and ovaries
What is the purpose of Meiosis (2)?
1) Keep the chromosomes # from doubling each generation

2) Produce variation "shuffle the alleles
Meiosis stages
1) interphase (GI,2,G2)
2) Prophase 1
3) Metaphase 1
4) Anaphase 1
5) Telophase 1 and cytokinesis
6) prophase II - Telephase II

makes 4 haploid cells
Is interphase the same in mitosis and meiosis?
yes
What is different in prophase I than prophase of mitosis?
1) chromatids align as tetrads
4 chromatids= replicated homologs

2) synapsis = crossing over
occurs

3) hybrid chromosomes = result of crossing over
What is different in metaphase I than metaphase of mitosis?
1) tetrads line up at metaphase plate
2) tetrads are attached to spindle fibers
Anaphase I
homologs separate from each other
Telophase I and cytokinesis
1) spindle disappears
2) nuclear envelopes and nucleoli- reappear (some species)
3) DNA- may uncoil (some species)
4) Cytokinesis results in 2 cells (sister chromatids still joined)
Prophase II-Telophase II
Same of mitosis, sister chromatid separate and produce four cells
Is there interphase between meiosis I and meisos II?
NO
What separates in meiosis one?
homologs seperate (2 cells form)
What separates in meiosis two?
sister chromatids seperate (4 cells form) HAPLOID
Independent Orientation
Orientation of homologs at metaphase I (Meiosis 1) plate
According to Independent Orientation how many total number combinations in a diploid cell? formula?
2 raised to n (number of pairs of chromosomes-combindations)
How many total combinations would there be in humans? According to indepedent orientation?
2 raised to 23

8 million
Random fertilization
Fusion of the haploid nuclei of two gametes. This is where chromosome number is restored.
Formula for random fertilization
(2^n) (2^n)
According to random fertilization how many combination's in a human?
64 trillion combinations
What leads to genetic variability (meiosis)?
1) indepedent orientation
2) random fertilization
3) crossing over during synapsis of PROPHASE 1- random occurs approximately 1 to 2 times per homolog pair
Principle of segregation
Gregor Mendel
Diploid cells have pairs of genes on pairs of homologous chromosomes.

The two genes of each pair are segregated-seperated from each other during meiosis so they end up in different gametes
Genes
unit of information about specific traits
ex: pea color
Humans have about how many genes spread out among their 23 chromosomes?
22,000 genes
How many copies of every gene are in each somatic cell?
2 copies
Alleles
alternate versions of a gene
Example of allele?
yellow or green
Pure breeding or homozygote
two identical alleles for a trait

ex: AA, aa
Hybrid or heterozygote
two different alleles
Dominant allele
Allele that is expressed in a heterozygote

Aa= yellow
Recessive allele
Allele that is masked in a heterozygote
Genotype
allelic composition of a gene

Aa, AA, aa
Phenotype
expression of a trait

yellow or green
Tester
homozygous recessive for all genes being examined
Homozygote x Homozygote

genotypes of offspring?
phenotypes of offsprint?
genotypes: all the same
phenotypes: all the same
Monohybrid x Monohybrid

genotypic ratio?
phenotypic ratio?
genotypic ratio: 1:2:1

phenotypic ratio: 3:1
Monohybrid x tester

genotypic ratio:
phenotypic ratio:
genotypic ratio: 1:1
phenotypic ratio: 1:1
Mendels principle of independent assortment
As meiosis ends, genes on pairs of homologous chromosomes have been sorted out for distribution into one gamete or another, independently of gene pairs of other chromosomes.
Dihybrid x dihybrid

phenotypic ratio?
9:3:3:1

9: both dominant
3: one dom, one recessive
3: one recess, one dominant
1: both recessive
Dihybrid x tester

phenotypic ratio?
1:1:1:1
3 things Mendel did not observe
1) multiple alleles
2) codominance
3) incomplete inheritance
Multiple alleles
3 or more alleles for one gene in a population

A1, A2, A3

example: red blood cells
Ia (rbcs make a antigen on surface), Ib(rbcs make b antigen on surface), i (rbcs make no antigen)
Codominance
They are both expressed in a heterozygote

ex:Ia and Ib
Incomplete Dominance
One allele of a pair is not fully dominant over the other in a heterozygote, so an "intermediate" phenotype is observed

ex: A (red) and a (white)
Aa (pink)

Phenotypic ratio and genotypic ratio are the same
Rule of Multiplication (Product Rule)
The probability of a compound event is the product of separate probabilities

(.5x.5x.5....)
Rare Autosomal Dominant Disorders
Need one dominant allele to have the disease. (A/a=disease, A/A death rarely seen a/a normal)

Affected individuals usually have one affected parents

Doesnt skip generations
Examples of Rare Autosomal Dominant Disorders (2)
1) achondroplasia- dwarfism
2) huntington's disease--neurological
Rare Autosomal Recessive Disorders
Needs two recessive alleles to have the disease (A/A normal, A/a normal carrier, a/a has disease)

Affected individuals usually have unaffected parents

Skips generations

Inbreeding increases frequency in a population
What increases Rare Autosomal Recessive Disorders in a population?
inbreeding
Examples of Rare Autsomal Recessive Disorders (3)
1) cystic fibrosis
2) tay sachs disease
3) sickle cell disease
Cystic fibrosis
-1 in 20 carriers
-most common genetic disease in Caucasians
-it is thick mucus in lungs and respiratory tract, chronic lung infections, malnutrition because of missing pancreatic enzymes, infertility in males, salty babies
Tay Sachs Disease
-neurological
-jewish child dead by 3
Sickle Cell Disease
-1 in 12 carriers
- defect with hemoglobin
-most common genetic disease associated with individuals of African descent
Examples of some common autosomal single gene Traits (4)
1) feckles, no freckles
2) widows peak, straight hairline
3) free earlobes, attached earlobes
4) left thumb, right thumb

these are not rare, and they do not affect survival or reproduction
Rare X-linked recessive disorders
mutated gene is located on the x chromosome

only one recessive allele is needed in males to have disease

females would need two copies
Rare X-linked recessive disorders: usually have affected or unaffected parents?
unaffected parents
What increases Rare X linked recessive disorders?
inbreeding in population
Examples of rare x-linked recessive disorders (3)
1) red-green colorblindness
2) hemophilia- bleeding disorder
3) muscular dystrophies- muscular degenerative diseases
Anueuploidy
Abnormal number of chromosomes in humans

(2n + 1) 47 chromsomes
What causes Anueploidy?
errors in meiosis; nondisjunction in meiosis I and meisis II
Non disjunction in meiosis I
Homologs dont seperate; all aneuploid (n+1) (n+1) (n-1) (n-1)
Non disjunction in meiosis II
Sister chromatids dont separate in one of the two cells; 1/2 aneupoloid

(n) (n) (n+1) (n-1)
Aneuploidy in autosomes
monosomy
trisomy
Monosomy
Losing one autosome, not compatible with life (human)
Trisomy
Gain one autosome
Trisomy 13,18,21
down syndrome, only ones that make it through development to birth
What increases the risk of Aneuploidy in autsomes?
Woman ages because her eggs are arrested in prophase I, non-disjunction becomes more common
Aneuploidy in sex chromosomes
gain or loss of sex chromosome
Examples of aneuploidy in sex chromosomes (4)
XXY
XYY
XO
XXX
XXY
Trisomy; Kleninfelters syndrome, feminized male, tall and thin, immature breasts, sterile
XYY
"Criminal phenotype"
normal fertile males
taller
more acne
lower IQ
XO
"Turners syndrome"
monosomy of the x
webbed neck
short
sterile (female)
XXX
normal fertile females
Fred Griffith
investigated the nature of genetic material mouse experiment with s & r stains of streptococcous
What was the consensus at the time on genetic material?
That eukaryote chromsomes carry genetic material and it consists of DNA and proteins

Genetic material was either DNA or proteins
Oswald Avery, Colin MacLeod, Maclyn McCarty
Test nature of genetic materials, DNA-inheritable, similar experiment with mice

Use DNase and protease to determine
Alfred Hershey and Martha Chase
Stuided T2 Bacteriophage which was comprised of DNA (inside) and protein (coat)
What were the two batches of phages with radioactivity labeled as

DNA?
Protein?
DNA: Phosphorous
Protein: Sulfur
What was done to the bacteria infected (2) batches?
they were infected, agitated, spun

spun to seperate the phage proteins (light) and bacteria cells (heavy)
What were the protein results labeled as? What were the DNA results labeled as?
Protein: solution
DNA: Pellets
What conclusion did Alfred Hersey and Martha Chase make?
DNA was inhertiable material
Edwin Chargaff
Purines (A,G)
Pyramidines (T,C)

ration of bases
C:G= 1:1
A:T= 1:1
Purines
A, G
Pyramidines
T,C
Rosalind Franklin and Maurce Wilkins
Used x-ray defraction as their main tool

Their data suggested the diameter of DNA, repeating units
James Watson and Francis Crick
Helix diameter (2nm)
Determined there were two strands
Determined base pairings:
A and T, G and C
The two strands of the double helix are?
antiparallel
DNA is a _____ helix of two long _____ strands
double, antiparallel
Polynucleotides
many nucleotides
Nucleotides
sugar base and phosphate
Bases bond with each other with ______ bonds. how?
hydrogen bonds

G and C = 3 bonds
A and T = 2 bonds
What does it mean when it says DNA is semiconservative?
Each new strand is comprised of an old strand and a new strand
What makes it possible for DNA to be semiconservative?
1) first stage of mitosis (interphase-s phase)

2) each strand of a double helix is a template for a new strand. it unwinds and the old is a template

3) half of every double stranded DNA (old) AND half is new
Enzyme that breaks hydrogen bonds between bases to unwind DNA into single strands
Helicase
Inserts new bases into the new strand
DNA polymerase
Transcription
DNA to mRNA
Translation
mRNA to protein
How many nucleotides are for each amino acids?
3 (Triplet sequence)
One strand of the double helix is "rewritten" in the code of mRNA
Transcription
Template
single strand of DNA being used in transcription
Complementary strand
mRNA synthesized
mRNA is decoded into language of proteins? what help this process?
Translation
tRNA (interpretor)
How many bases in mRNA is for one codon?
every triplet bases (three bases)
How many amino acids for a codon?
one
How many codons can code for one amino acids?
more than one
Transcription in eukaryotes occurs where?
nucleus
Adds RNA nucleotides to the growing RNA at the 3' END
RNA polymerase
Importance sequences in DNA
1) Promotor
2) coding region
3) terminator
Coding region (transcription)

2 sequences
Exons (Sequences that will be expressed)

Introns (sequences that will not be expressed)
Promotor and Terminator
gene start
end
of transcription
Post transcription processing of mRNA

(3)
1) addition of 5' cap
2) addition of 3' poly A tail
3) exons get spliced together (introns are lost)
Where is the transcript shuttled from?
nucleus to the cytoplasmathrough nuclear pores
What are the 5 players of translation?
1) mRNA
2) ribosome
3) tRNAs
4) amino acids
5) enzymes that attach amino acids to tRNAs
Location of translation?
at a ribosome in cytoplasm either free or attached to RER
What is the tRNA "interpreter" functions
1) carries the approporate amino acid to the ribosome

2) recognize the appropriate codon in mRNA
What is the structure of tRNA?
Anticondon-triplet sequence complementary to the codon
Ribosomes function in translation
1) serves as a meeting place for the tRNAs and the mRNA
2) catalyze a reaction. They form peptide bonds between amino acids
Structure Ribosomes
1) large and small subunits made of rRNA and proteins
2) P site and A site: groves that hold tRNAs involved in the process
The grooves that hold tRNAS involved in the process
P site and A site
Start codon
AUG
Stop codon
UAA, UAG, UGA,
they do not code for amino acids
Initiation (phase one of translation)
1) small subunit of ribosome binds mRNA
2) tRNA binds start codon
3) large subunit of ribosome clamps down
Elongation (phase two of translation)
1) codon recognition- tRNA carrying appropriate amino acid recognizes the codon and sits in the groove of ribosome
2) peptide bond formation- forms between the amino acids sitting in the grooves
3) translocation- ribosome moves over on codon
Translocation
ribosome moves over on codon
Peptide bond formation
forms between the amino acids sitting in the grooves
Codon recognition
tRNA carrying appropriate amino acid recognizes the codon and sits in the groove of ribosome
Termination (phase three of translation)
stop codon, polypeptide is freed
4 ways mutations arise
1) spontanesously in dna repliaction
2) ionizing radiation (xrays)
3) nonionizing radiation (uv light)
4) chemicals
Ionizing radiation causes what type of mutations?
double stranded breaks in DNA
Nonionizing radiation causes what type of mutations?
UV light
frameshift mutations
Chemicals cause what type of mutations?
base substitutions
Some stem cells seem to have more abilities, or possibilities, than other stem cells termed...
potency of the stem cell
Stem cell that can only form one differentiated cell type
unipotent
A stem cell can form multiple different cells and tissue types
multipotent
A stem cell can form most or all of the 220 differentiated cell types in the adult body
pluripotent
A stem cell can form not only all adult body cell types but also specialized tissues needed for development of the embryo, such as the placenta
totipotent