lecture one Flashcards
What makes up a chromosome
dna and protein
What is interphase composed of
G1 phase
S phase - synthesis
and G2 phase
What happens in each step of interphase
In G1 the cell grows
In synthesis, chromosomes are copied
In G2 both copies continue to grow
What happens in M-Phase
The cell divides, and since in synthesis the chromosomes are doubled, each cell has their own set of chromosomes
Describe what happens in g2 of interphase carefully
The nuclear envelope surrounds nucleus
The centrosome is composed of two centrioles
The chromatid is not condensed yet and therefore not yet visible
What happens in prophase
the centrosomes begin to move to opposite poles
The chromosomes begin to condense begin to be seen
the early mitotic spindle forms
What happens in prometaphase
The centrosomes are now at opposite poles of the cell
the nuclear envelope is in pieces
the microtubules attach to the chromosomes that have broken out of the nuclear envelope
What are the different types of microtubules
The kinetochore microtubules are the microtubules that are attached to the chromosomes
The microtubules not attached to chromosomes are called non-kinetochore microtubules
astral rays stick out from the centrosomes
What happens in metaphase
The chromosomes all line up on the mitotic plate
centrosomes are at opposite poles
What happens in Anaphase
The sister chromatids that make up a chromosome are pulled apart to opposite poles of the cell by kinetochore microtubules
lkinetchore microtubules shorten
the cell elongates because as the kinetochore microtubules shorten, the non-kinetochore microbules grow
What happens in telophase
Two nuclei begin to form, nuclear envelopes begin to piece back together from their fragments
chromosomes begin to fade from the eye, becoming less condense
the spindle microtubules are depolymerized
Then cytokinesis happens and the cells are pinched from one another, resulting in a two copies of the first cell
What is a gene’s locus?
A locus is a location. A gene’s locus is the location or place of the genes on a chromosome
How many human chromosomes in a single cell?
46! and 2 are the sexual chromosomes
There are 22 pairs of homologous chromosomes and one pair of sex chromosomes
Where do a person’s chromosomes come from
Humans inherit one chromosome from each pair of chromosomes from each parent
what is a gamete
A human gamete is a sex chromosome that is a haploid cell (23 chromosomes)
What makes a zygote
Two gametes: an egg and a sperm cell
What is the human life cycle
cells from ovaries and testicles go through meiosis so they get rid of half of their chromosomes, then they become eggs and sperm, then they fertilize making a zygote. This zygote then goes through mitosis and then development before the cycle repeats
What does one regular cell become when it goes through meiosis?
4 daughter cells (n)
Meiosis I - prophase I
spindle formation
envelope breakdown
chromosomes are slightly crossed over at chiasmata (site of crossover)
Metaphase I
Pars of homologous chromosomes are at the metaphase plate, (opposite pair together)
Anaphase I
Breakdown of proteins holding chromosomes
the chromosomes begin moving to opposite poles
Telophase I and cytokinesis
each half of cell has 23 chromosomes
cytokinesis forms two haploid daughter cells
Meiosis II - Prophase II
spindle apparatus forms
chromosomes start moving towards metaphase II plate
Metaphase II
Chromosomes at Metaphase II plate
because of the crossing over, the sister chromatids in each chromosome are not identical
The kinetochore microtubules are attached to sister chromatids
Anaphase II
Breakdown of protein at centromeres allows the sister chromatids to separate and move towards opposite poles
Telophase II and cytokinesis
Nuclei form
chromosomes begin to decondense
cytokineses pinches the cell into two cells
The end of meiosis: result
4 daughter cells (n) came from one parent cell (2n)
character
A heritable feature that varies among individuals
ex: hair colour
trait
Each varient for a character is a trait
ex: brown, blonde, red hair colour
Medel’s Laws?
Law of segregation and the law of independant assosrtment
Explain the law of segregation
The alleles for a heritable character segregate during gamete formation and end up in different gametes
Explain law of independant assortment
Each pair of allels segregate independantly from other par of alleles during gamete formation
Deviations from mendels laws? (7)
1) some traits not on nuclear chromosomes
- -> sometimes traits determined from mitochondrial or chloroplast chromosomes
2) traits on the same chromosome
- -> what happens if crossing over doesn’t happen
- -> linked genes do not separate during formation of gametes
3) Traits carried on sex-chromosomes
- -> X, Y, Male or female
4) incomplete dominance
- -> heterozygous is combo of both
- -> dominant isn’t completely expressed
- -> red and white alleles make pink
5) co-dominance
- -> two alleles affect phenotype in separate distinguishable ways
- -> speckled chickens
6) Multiple alleles
There can be multiple genotypes for the same phenotype
–> Type A blood is IAIA or IAiA
7) lethal alleles
- -> immediate death
Autosomal and sex chromosomes?
22 pairs autosomal chromosomes
1 pair sex chromosomes
makes 23 pairs of human chromosomes total
what are abnormal numbers of chromosomes caused by?
Nondisjunction
What is nondisjunctino
Where chromosomes that are in a pair do not move apart during some stage in meiosis I or sster chromatids fail to seperate during meiosis II
What is the result of nondisjunction?
One chromosome receives both chromosomes of one pair/type while the other receives no copy
What does Aneuploidy mean? What are its subtypes?
zygote with abnormal number of a particular chromosome
- subtypes
- monosomic (2n-1) - trisomic (2n+1)
What does polyplidy mean? subtypes?
Means the organism has more than two complete chromosomes sets
subsets
- triploidy (3n) - tetraploidy (4n)
What is Klinefelter syndrome
XXY sterile male with female body characteristics
What is Turner syndrome?
XO sterile female, short stature and immature sex organs
XXX syndrome
associated with learning difficulties; fertile
XYY syndrome
associated with behavioral difficulties; fertile
Explai single gene diseases
Casued by a mutant gene
mutant gene may be on one chromosome of a homologous pair or on both chromosomes
ex cystic fibrosis
huntingtons disease sinckle cell amenia
Questions clinical genesist must ask themselves?
Autosomal or sex-linked?
–> if it’s sex-linked it will be predominatley in males
Dominant or recessive trait?
—> if dominant, every affected will have an affected parent
Caused by single or multiple gene?
–> if single, heterogenous parents will have 25% of their kids affected
Discovery of DNA material
1) Miescher isolates nuclein
2) Fred Griffin demonstrates transformation of bacteria
3) Oswald avery purifies the transforming principle of bacteria
4) Hershey-Chase experment shows that DNA = genes
5) Watson and crick report the structure of DNA
6) Meselson and stahl determine DNA replication is semiconservative
7) Arthur Koberg and others deduce the molecular components of DNA replication
Fred Griffins experiment demonstarting transformation of bacteria
living S cells and R cells and heat killed S cells
- the s train alive, was virulent
He mixed the heat-killed S cells and the harmless living R cells
- -> R- cells did not mutate
- -> The R-cells had been TRANSFORMED: a permanent change in their hereditary system in the R-Strain of the bacterium
Oswald Avery purifies the transforming principle DNA
Blender
-Sulfur in Protein
-Phospherous in DNA
Sulfur labeled protein and phospherous labeled DNA infected cells, he blended them, he centrifuged them
Phosphorous was found in cells but sulfur was not
–> DNA is genetic material
Watson and Crick report the structure of DNA
DNA is Double Helix
DNA strands are complementary with nitrogeous bases fitting long it
DNA strands run in opposite directs, antiparallel
Basic replication idea, the complementary stands seperte, became templates, complamentary nucleotides line up, new DNA strand attached to old DNA strands –> product: two DNA strands
Meselon and Stahl determine DNA replication is semiconservative
3 models proposed :
- semiconservative (two strands seperated, new DNA matches)
- conservative (DNA strays together, whole other DNA replicates)
- dispersive (Parts of the old strands fuse together with parts of new strand creating fused old and new DNA strands that match together)
What as the theoretical basis for Meselon and Stahl’s experiment?
DNA incorporated with heavy nitrogen isotope (15N) would be separated from SNA incorporated with the light isotope of nitrogen (14N) during density gradient centrifugation
Watson and Crick report structure of DNA:
DNA is a polymer of nucleotides
Nucleotide
5-carbon ribose (sugar) group
Phosphate group on 5’ carbon of ribose
A base on 1’ carbon of ribose
A base could be…
- adenine “A”
- thymine “T”
- guanine “G”
- cytosine “C”
There are two types of Nucleic Acids
DeoxyribNucleic Acid - DNA
- double stranded molecule
RiboNucleic Acid - RNA
- single stranded molecule
The chemical difference between DNA and RNA
DNA has deoxyriboses
RNA has riboses
RNA has the base Uracil while DNA has thymine
Bonds between base pairings
Thymine and adenine - double bond
Guanine and cytosine - triple bond
Direction of DNA structure
Strands curl up to the right
Stands are antiparellel
DNA replication
- begins at “origin of replication” (short stretches of DNA with a specific sequence of nucleotides)
- proteins that initiate DMA replication, recognize the origins of replication and attach
- the proteins that have attached create a bubble between the complementary DNA strands
- Replication process in BOTH DIRECTIONS until the entire molecule is occupied
- At the end of a replication bubble between the DNA strands is a replication fork
What happens if the DNA molecule is incredibly long?
DNA replication bubbles happen at different site on molecule and eventually join up creating one large bubble until the entire molecule is occupied
What is a replication fork?
a y- shaped region where the parental strands of DNA are being unwound- several different proteins participate in this unwinding: Helicases and Topisomerase
What are helicases?
Proteins.
Enzymes that unwind the double helix/ parental strands
What happens to the parental strands as they untwist?
They become templates from a new complementary strand to form onto
Detailed description of the unwinding?
While unwinding, the parent strands will what to repair again, to keep this from happening, single strand binding proteins bind to the newly unpaired DNA strands to stabilize them
What is the protein topoismerase’s role in the unwinding of DNA?
While the parental DNA strands unwind, the wound part ahead of the replication fork gets tighter and tighter creating tension.
Toposiomerase helps relieve this tension by breaking, swiveling and then rejoining the DNA strands to themselves