For exam 2 Flashcards
Learning Goals of cell cycle
Cell division is the basis of growth, development, tissues repair, and reproduction of living organisms
Mitosis coordinates nuclear division in eukaryotic cells to produce genetically identical daughter cells
The eukaryotic cell cycle consists of several phases and is regulated by a molecular control system
Types of cell division
Prokaryotic cell: binary fission as a mechanism of reproduction
Eukaryotic cells: mitosis as a mechanism of reproduction (single-celled eukaryotes) or growth/repair (multicellular eukaryotes)
Meiosis: as a mechanism of specialized reproductive cells(gametes)
The 4 events that must occur for cell division
Reproductive signal: to initate cell division
Replication: of the DNA
Segregation: distribution of the DNA into the two new cells
Cytokinesis: separation of the two new cells
Interphase and M phase (mitosis/cytokinesis)
Interphase: being in’s after cytokinesis, ends when mitosis starts, cell nucleus is visible and cell functions occur, indicating DNA replication, divided into sub phases: G1, S, G2 (defined by DNA replication status)
M(mitosis) phase: Nuclear membrane dissolves fully
G1, S, and G2
G1: getting ready to make DNA
S: duplicating DNA
G2: double DNA in cell
Interphase
DNA exists as long, threadlike “chromatin”
G1: each chromosome consists of one double strand DNA
S; DNA replication produces 2 identical double stands of DNA (sister chromatids) for each chromosome
G2: each chromosome consists of two associated dsDNA molecules(sister chromatids)
M-phase
Chromosomes befoul e visible as dense, compact rods, each consisting of 2 chromatids held together at the certeromere(until separation)
Mitosis phases
-prophase/pre metaphase: compaction of replicated DNA into visible chromosomes; breakdown of nuclear envelope
-metaphase: duplicated chromosomes line up in middle of cell
Anaphase: sister chromatids separate and move to opposite sides of cell (now are daughter chromosomes)
-telophase: deco patio n and formation fo new nuclear envelope around the two separated sets of daughter chromosomes
- cytokinesis: division of the cytoplasm (forms two cells)
Spindle fibers
Micro tumbles fui cation as spindle fibers which orient and more chromosomes in the dividing cell
Positions of the centro Somme’s define the poles adn plane of division
Polar micrtubles overlap in center
Kinetochore micro tubules attach to kinetochores on the chromatids, sister chromatids attach to opposite halves of the spindle
Micro tubules form and attach to chromosomes during pro metaphase
G1-S Cdk phosporylates RB protein
Unphosphorylated (active) RB inhibits the cell cycle at Restricion Point, cell does no tenter S phase, when RB is inactivated and no longer blockers the cell cycle, the cell can go to DNA replication
MTOC and Centrosome
MTOC= microtubule organizing center
-surrounded by high conversation of tubulin dimmers
-forms/orients mito tic spindle that will attach to and more the duplicated chromosomes during M phase
Centrosome= MTOC of animal cells
-consist of 2 centrioles- hollow tubes formed by micro tubules at R angles
-doubles during S phase, each will move to opposite ends of nuclear envelope during G2-M transition
-positions determine the spindle orientation and plane of cellular division
Cytokinesis
In animal cells, a contractile ring of actin and myosin micro filaments pinches in the cell membrane
In plan cells vesicles form the Golgi
Transitions depend on activity of enzymes calles
cdks= cyclin-dependent kinases
This is only active when bound to its partner protein called cyclin
Unregulated cell division: Cancer
Normal positive regular OTs such as growth factors or their receptors stimulant the cell cycle
Normal negative regulators that inhibit the cell cycle
DNA involvement with cell division
Binary Fission and Mitosis: DNA copied and complete copy segregated to each ‘daughter cell’
Products identical to the ‘mother cell’
Meiosis: DNA copied, followed by 2 rounds of division and nuclear segregation, DNA content reduced by 1/2, each product is unique
Sexual reproduction
Systematic joining of gametes to produce a diploid phase of life cycle, coupled with meiosis that reduces chromosome number in the haploid phase.
Meiosis is a specialized cell division where a single round of DNA synthesis is followed by two stages of chromosome segregation( diploid mother cell(pairs of chromosomes)) to haploid daughter cheeks (each with one of each kind of chromosome)
Shuffles genetic variation- offspring are not identical to parents or each other
Homologous chromosomes
Appear the same and contain the same genes except for sex chromosomes
Summary of meiosis
Functions
-reduce chromosome number from dipoloid to haploid, ensure that each haploid cell has a complete set of chromosomes, generate diversity amount daughter cells (hamate’s or spores)
Key Features
-2 nuclear divisions but DNA is replicated only once- begins in a diploid cell (Meiocyte) with all chromosomes in pairs, ends with haploid produces (4 possible)
-homologous chromosomes pair and exchange genetic information, then segregate from each other in Meiosis 1, sister chromatids separate from each other in meiosis 2
Uniques events of meiosis 1
Duplicated homologous Pairs of chromosomes come together and pair along their entire lengths
-paring occurs during prophase 1, it is called synapsids, the 4 chromatids of each homologous pair form a tetra d or bivalvet, can lead to crossing over between non-sister chromatids
After metaphase 1 the homologous pairs separate, maternal and paternal centromeres of each pair segregate to opposite poles, cells at the end of meiosis 1 are haploid but each chromosome still contains 2 chromatids
Sex and Meiosis learning goals
Meiosis has 2 consecutive nuclear divisions, resulting in daughter cells with half the number of chromosomes as the parent cell
Crossing over
Exchange of genetic material during prophase 1
Events of meiosis
Meiosis 2:
-duplicated cells at end of Meiosis 1 are haploid, but each chromosome still consists of 2 chromatids
-critical event of meiosis 2 is separation of the sister chromatids, similar to mitosis, sister chromatids segregate to opposite poles
Timing of events of meiosis
Prophase 1 may last a long time: males 1 wk-1 month, females: in utero, pause, resume at puberty
Nondisjunction
Homologous pairs fail to separate at Anaphase 1 or sister chromatids fail to separate at anaphase 2, either results in and upload y- chromosomes missing or presents in excess
Potential causes:
-aneuploidy is sometimes caused by lack of cohesion’s that hold the homologous pairs together. Without cohesions, both homologous segerate at random
-failure to undergo crossing over
-frequency of nondisjunction goes up as female ages
Trisomic
If both homologs go to the same pole and the resulting egg is fertilized
Monosomic
A fertilized egg that does not receive a copy of a particular chromosome
Crossing over
Exchange between non sister chromatids produces recombination between DNA molecules
Independent assortment
Haploid sets of chromosomes inherited from parents mixed by segregation of homologs during meiosis 1
Meiosis, Mendel, and linkage learning goals
Segregation of chromosomes in meiosis accounts for mendel’s laws of segregation and independent assortment
Genes in physical proximity on the same chromosome exhibit linkage
Mendel’s first law
The law of segregation: the two alleles of a gene separate and are transmitted individually and equally to gametes
A gene is a sequence within a DNA molecule and resides at a particular site on a chromosome(locus). Funcation of the gene influences characteristics of the organism. Because genes are shared by homologous chromosomes, different alleles segerate equally to gametes during meiosis
The transmisión of chromosome pairs (homologs) through meiosis is the mechanism
Mendel’s second law
The law of independent assortment: alleles of different genes assort independently during gamete formation
Linkage
Alleles of separate loci were transmitted together to offspring
Recombinant Types
Nem combinations of alleles/phenotypes
Meiosis has 2 consecutive nuclear divisions, resulting in daughter cells with half the number of chromosomes as the parent cell
Linkage learning goals
Genes in physical proximity on the same chromosome exhibit linkage
The frequency of crossing over between linked genes is a measure of their relative distance
Sex chromosomes contain the gene that determine sex and exhibit unique patterns of inheritance
Frequency of crossing over between two linked genes is proportional to the distance between them
Frequencies of recombinant gametes and resulting (non=parental) offspring are greater for loci that are further apart
Recombinant frequency = # of recombinant offspring/ total # of offspring
Maximal recombinant frequency is .5 also the expectation under independent assortment
Absolute linkage
Rare
Even alleles of different loci that are very close on the same chrome se are sometimes recombined by crossing over
Linkage group
All of the loci on a chromosome
Genetic maps
Recombinant frequencies can be used to make this, showing the arrangement of genes along a chromosome
Map unit
Distance between genes = 100x recombinant frequency
Also called a centimorgan (cM)
Sex chromosomes
Sex determination varies among species
In most dioecious organisms (2 sexes), sex is determined by a gene or genes
The gene with primary control of sexual development are present on the sex chromosomes
Other chromosomes are called autosomes
SRY
Sex determing region on the Y- is the part of the Y chromosome that encodes a protein that initiates male development
Nondisjunction of Sex Chromosomes
Sex chromosome abnormalities can result from nondisjunction in meiosis: pair of homologous chromosmes fail to separate in meiosis 1 or pair of sister chromatids fail to separate in meiosis 2
Result is aneuploidy- abnormal number of chromosomes
XO- the individual has only one sex chromose (Turner syndrome)
XXY- Klinefelter syndrome, affects males and results in sterility and overlong limbs
Human sex chromosome
Genes on sex chromosmes exhibit sex-linked inheritance
The Y chromosome carries few genes; the X chromosome carries many genes involved in a variety of functions
Thus males have only one copy of the genes on the X (hemizygous) and express the phenotype of that allele
X-linked recessive phenotypes
Appear much more often in males than females; heterozygous females are often CARRIERS
Phenotype can skip a generation if it passes from a male to his daughter and then grandson
Genetics learning goals
Sex chromosomes contain the genes that determine sex and exhibit unique patterns of inheritance
Dominance is not always complete and it depends on the interaction between alleles
Alleles of different genes can interact to affect the phenotype
Genotype and phenotype of Mendelian traits are predictable
Complete dominance
Heterozygotes appear similar to one of the homozygotes; used to define a dominate allele and a recessive allele
Incomplete dominance
Sometimes heterozygoetes have an intermediate phenotype
You mix a red flower with a white flower and get a pink flower
One allele is insuffienct to produce the same phenotype as the two alleles of either homozygote, so the phenotype lies between
Co dominance
Phenotypes of both alleles appear in the heterozygote
Each allele is expresses in the heterozygotes, think about the blood type example
Many traits are influenced by the genotype of more than a single gene
Physical characteristics reflect underlying cellular functions, such as en y antic activity within biochemical pathways
Epistasis
Phenotypic expression of one gene is influenced by genotype of another gene
Typical results in modification of the usual 9:3:3:1 ratio of di hybrid cross- 9:3:4
Think about dog coat color
Probability Rules
Probablility of an event that can occur in two different (mutually exclusive) ways is the sum of the individual properties
Single gene disorders
Most are rare in the general population
Caused ny a mutant allele of a single gene
The genetic change can result ina change in phenotype
Single gene disorders
Most are rare in the general population
Caused ny a mutant allele of a single gene
The genetic change can result ina change in phenotype
Recessive Disorders
Both alleles have to be mutant: albinism, CF, PKU,
Dominate disorders
One mutant allele is enough: huntington disease, achondroplasia
Frederick Griffith
Trying to find vaccine for pneumonia by isolating 2 types of bacteria smooth and rough(not dangerous) S strain had polysaccharide capsule around cells
Identified transforming principle
Hershey and Chase Experiment
Used virus to determine where the genetic material was located by injecting radioactive phosphate and suffer
Conclusion: DNA contained the information needed to make the next generation of the phage
DNA Structure/ Chargaff’s Rules
Determined that in DNA molecule the amounts of purines were present in equal amount to Pyrimidines, A=T and G=-C(triple H bond, more stable)
Rosalind Franklin
Used x-ray cystrallography to be able to display DNA and determine that DNA is a spiral or helical molecule and nitrogenous bases are interior
Watson and Crick
Combined all knowledge about DNA to determine structure
Antiparallel strands
Polarity of stand is determined by the sugar-phosphate bonds
Phosphate groups connect to the 3’C of on e sugar adn the 5’C of the next sugar
3’ end has hydroxial group
Minor vs major groove
The minor groove does not have the nitrogenous bases exposed
Major groove is wider/more exposed as the nitrogenous bases are exposed
Protein-DNA
Interactions plays a crucial role in many biological processes such as regulation of gene expression, DNA replication, repair, transportation, recombination, and packaging of chromosomal DNA
4 key structures of DNA
- It is double stranded helix of uniform diameter
- It is right handed
- Strands in antiparallel orientation based on 5’ and 3’ carbons of deoxyribose sugar
- Outer edges of nitrogenous bases are exposed in the major and minor grooves
DNA’s 4 important funcation
(Double- helical structure is essential)
-genetic material stores genetic information- millions of nucleotides; base sequences encodes huge amounts of information
-genetic material is susceptible to Mutation- change in information/message- possible through a simple alteration to a sequence
Genetic material is preciesely replicated in cell division- by complementary base pairing
- genetic material is expressed as the phenotype- nucleotide sequence determines sequence of amino acids in proteins
- the strucutre of DNA suggested a way in which the information in DNA might be copied so that it could be passed down to cells produced in mitosis and meiosis
- because of complementary base pairing, the information is contained in both strands; each strand can act as a template to make a new strand