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Gaucher disease
deficiency in fat metabolism leads to accumulation of fat in white blood cells in spleen, liver and bone marrow
common in individuals of Easter European Jewish descent
treatment → enzyme replacement therapy, bone marrow transplant
four classes of macromolecules
carbohydrates → simple sugars and large polymers
lipids → fats and oils, phospholipids and steroids
protein → polymers of amino acids
nucleic acids → polymers of nucleotides
two cellular domains of cells
plasma membrane
cytoplasm
nucleus
contains the genetic information necessary to to control cell structure and function
nucleolus
produces r
endoplasmic reticulum
smooth ER is involved in producing phospholipids and has many different functions in different cells. Rough ER is the site of synthesis of proteins for intracellular and extracellular use
ribosomes
aids in the production of proteins on the RER and in ribosomes complexes
golgi complex
sorts, chemically modifies and packages proteins produced on the RER
secretory vesicles
stores protein, hormones or enzymes in the cytoplasm awaiting a signal for release
lysosome
combines with food vacuoles and digest materials engulfed by cells
mitochondria
completes the breakdown of glucose, producing ATP
e phases of the cell cycle
interphase - time between cell divisions, G1, S, and G2 phases
mitosis - division of the nucleus nd segregation of the chromosomes into the future daughter cells
cytokinesis - division of the cytoplasm
chromatid
one strand of a duplicated chromosome
sister chromatids
two chromatids joined by a common centromere
each carries identical genetic information
kinases
enzymes that add phosphates to other proteins
cyclin-dependent kinases (CDKS) are inactive unless bound by their corresponding cyclin protein
CDKs are consistently present in cells
cyclins
proteins with no enzymatic activity of their own
only produced at certain times during cell cycle
bind to cyclin-dependent kinases (CDKs) to activate CDKs at appropriate times during cell cycle
cell cycle regulation
activated CKDs phosphorylate target proteins that regulate cell cycle progress
when cyclin production decreases, CDKs are unbound and go back to inactive state
cell cycle checkpoints
processes “checked” before next stage can begin
3 major checkpoints: G1, G2, M
interphase
G1 - stage begins immediately after mitosis, RNA, proteins, and organelles are synthesized
S - DNA is replicated and chromosomes form sister chromatids
G2 - mitochondria divide. precursors of spindle fibers are synthesized
mitosis
prophase - chromosomes condense, nuclear envelope disappears, centrioles divide and migrate to opposite poles of the dividing cell, spindle fibers form and attach to chromosomes
metaphase - chromosomes line up on the midline of the dividing cell
anaphase - chromosomes begin to seperate
telophase - chromosomes reach opposite poles, new nuclear envelope forms, chromosomes decondense
cytokinesis
cleavage furrows forms and deepens
cytoplasm divides
hayflick limit
cells can undergo only a certain number of cell division before they stop dviding; genetically controlled
human embryonic cells divide about 50 times while human adult cells divide 10-30 times; embyronic stem cells can divide indefinitely
allows growth to adulthood and cell replacement
meiosis
produces 4 haploid cells containing only one copy (paternal or maternal) of each chromosome
two rounds of meiotic division
meiosis I - separates the homologous chromosomes, reduces the chromosome number from diploid to haploid, crossing over results in genetic variation
meiosis II - separates the sister chromatids, equational division, four haploid cells result
Meiosis I
prophase I - chromosomes become visible, homologous chromosomes pair, and sister chromatids become apparent. recombination takes place
metaphase I - paired chromosomes align at equator of cell
anaphase I - paired homolgous chromosomes separate, members of each chromosome pair move to opposite poles
telophase I - chromosomes uncoil become dispersed
cytokinesis - cytoplasm divides, forming two cells
meiosis II
prophase II - chromosomes recoil, shorten
metaphase II - unpaired chromosomes become aligned at equator of cell
anaphase II - centromeres separate, daughter chromosomes which were sister chromatids, pull apart
telophase II - chromosomes uncoil, nuclear envelope re-forms. meiosis ends
cytokinesis - the cytoplasm divides, forming daughter cells
sperm
produced by males through spermatogenesis in the testes
Mitotic spermatogonia produce spermatocytes
Meiosis in spermatocytes produces haploid spermatids that mature into sperm cells
continually produced form puberty until death
four mature sperm from one primary spermatocyte
oocytes
produced by females through oogenesis in the ovary
Mitotic oogonia produce primary oocytes
Meiosis in primary oocytes produces ova
Finite number of primary oocytes arrested in meiosis I are produced during embryonic development
Meiosis II is completed upon fertilization
Only one mature ovum results from one primary oocyte
All of the following are functions of proteins, EXCEPT:
structure
protection
hormones
genetic instructions
transport
genetic instructions
Which macromolecule is defined by its physical property of being insoluble in water?
nucleic acids
proteins
carbohydrates
lipids
lipids (fat)
In the life sciences, it's often helpful to interpret terminology using word roots. As an example, the "ribo-" in ribosome refers to the 5-carbon sugar ribose; the "-some" is from the Greek word root soma, for body. So you could think of ribosome as meaning "ribose-body." Which of these options makes the most sense of this interpretation for the term ribosome?
Ribosomes are large, multi-unit molecular machines.
Ribosomes are not classified as organelles because they are not surrounded by a membrane.
Ribosomes are particle-like structures that contain RNA (as well as proteins), and ribose is the sugar in RNA.
Ribosomes are particle-like structures that contain RNA (as well as proteins) and ribose is the sugar in RNA
Translated from Latin, organelle means “little tool” this is appropriate as organelles fit inside the cell and perform a specific function
true
Suppose that you could synthesize an mRNA with a random sequence of nucleotides but attach the information for a normal signal sequence to one end, and that you could mark the molecule so you can observe what happens to it after you introduce it to the interior of a cell. choose the most logical prediction
it would not enter the ER, because the signal sequence only works for the insulin protein
the signal sequence would bind to the RNA-protein particle and protein would enter the ER
it would not enter the ER, becuase the mRNA sequence is random and not meaningful in terms of the cell’s fitness
the signal sequence would bind to the RNA-protein particle and the protein would enter the ER
Flow of events in the endomembrane system
mRNA is exported from the nuclus through a nuclear pore
protein synthesis (linking amino acids via peptide bonds) begins in a ribosomes
a signal sequence on the new protein binds to an RNA-protein particle, which interacts with a receptor on the ER membrane
the protein enters the inside of the ER, through a channel
folding and other processing occurs inside the ER
processed proteins and other products move the Golgie from ER through “connection tunnels”
products move through each sac in the Golgi, being processed, sorted by destination, and loaded into a vesicle
kinesin walks along microtubules to carry vesicles that bud off the Golgi to their destination
vesicles arrive at their destination and empty their cargo
the _______ is a unique organelle because it is the only location of DNA outside of the nucleus in animal cells
mitochondrion
which phrases best compare the genetic information of two sister chromatids
the same genes on each chromatid
the same alleles on each chromatid
different genes on each chromatid
different alleles on each chromatid
the same genes on each chromatid
the same alleles on each chromatid
ndicate which of the following is true regarding homologous chromosomes, non-homologous chromosomes, and sister chromatids. (Select all that apply.)
Identical alleles for the same gene can be found on two non-homologous chromosomes.
Two different alleles for the same gene can be found on a pair of sister chromatids.
Two different genes can be found in the same location on a pair of homologous chromosomes.
Two different alleles for the same gene can be found on a pair of homologous chromosomes.
two different alleles for the same gene can be found on a pair of homoglous chromosomes
Humans contain two copies of each chromosome, for example, two chromosome 16s. What are these copies called
homologues
sister chromatids
non-homologous chromosomes
homologues
which phrases best compare the genetic information of homologous chromosomes
identical genes on each chromosome
different alleles on each chromosome
identical alleles on each chromosome
different genes on each chromosome
identical genes on each chromosomes
different alleles on each chromsomes
sister chromatids are
matched pairs of chromosomes containing genes for the same traits in identical locations along their length
chromosomes that do not contain the same genes or belong to the same pair
identical copies of a chromosome present after replication
identical copies of a chromosome present after replication
sister chromatids are
a pair of chromosomes in which each chromosome has been inherited from a different parent
identical
the result of DNA replication
nonidentical
identical
the result of DNA replication
assuming no recombination between them, sister chromatids have
an identical set of alleles
a similar but not identical set of alleles
a very different set of alleles
an identical set of alleles
What is the difference between a pair of sister chromatids and a pair of homologous chromosomes?
Sister chromatids have the same alleles of the same genes, whereas homologous chromosomes may have different alleles of the same genes.
Sister chromatids are present in both mitosis and meiosis, whereas homologous chromosomes are present only during meiosis.
Sister chromatids have the same genes, whereas homologous chromosomes have different genes.
Sister chromatids are present during all phases of the cell cycle, whereas homologous chromosomes are present only during division
sister chromatids have the same alleles of the same genes, whereas homologous chromosomes may have different allels of the same gene
When life scientists first began studying cell division in detail, they could only distinguish between two phases in the life of a cell: M phase, when mitosis could be observed under the microscopes available at the time, and interphase, when no visible changes were occurring to the chromosomes.
Under the current model of a 4-phase cell cycle with G0 as an "exit," which phases are included in interphase? Select all that apply.
G0
M
G2
S
G1
G2, S, G1
In everyday English, a checkpoint is defined as "a staffed barrier, typically at a border, where travelers are subject to security checks."
Why is "checkpoint" a logical term for the "stop-or-go" intervals in the cell cycle? Select the single best answer.
The function of cell cycle checkpoints is similar to border checkpoints for travelers, especially the analogy to DNA being "secure." In this analogy, checkpoints are "staffed" by regulatory proteins.
Checkpoints are the points at which the cell cycle stops, meaning that the cell no longer divides but instead enters the mature G0 phase of its existence.
In essence, the cell has to "write a check" to be able to pass through that point and continue with the cell cycle.
The function of cell cycle checkpoints is similar to border checkpoints for travelers, especially the analogy to DNA being "secure." In this analogy, checkpoints are "staffed" by regulatory proteins.
If the regulatory proteins that act at cell cycle checkpoints fail, the consequences are minor. The cell will just push through and divide even if it has damaged DNA, which is the whole point of the cell cycle.
false
in which phase of the cell cycle is the decision made whether to enter G0 or continue through the cell cycle
G1
In which phases of the cell cycle do cells contain replicated chromosomes? Select all that apply.
S
G1
M
G0
G2
S, M, G2
Suppose a cell was unable to replicate its DNA during S phase. Which cell cycle checkpoint is the cell most likely unable to pass?
None; the cell should be able to pass all of these checkpoints.
the M checkpoint
the G2 checkpoint
the G1 checkpoint
G2 checkpoint
suppose a cell’s nutrient supply is too low. which cell cycle checkpoint is the cell most likely unable to pass
G1
Consider what happens in each part of the cell cycle. Why does DNA replication have to occur before mitosis, in interphase
Mitosis is the same as saying cell division, and the physical separation that divides cells depends on DNA replication
Mitosis is the same as saying chromosome replication - they are the same thing
Mitosis sends one copy of each chromosome to each daughter cell so it cant occur unless replication has already made the copies
mitosis sends one copy of each chromosome to each daughter cell, so it cant occur unless replication has already made the copies
Which statements accurately describe characteristics of germ cells and/or somatic cells? Select all that apply.
Cells that divide to form eggs are germ cells.
Germ cells undergo meiosis.
Cells that divide to form sperm are germ cells.
A fertilized egg is a germ cell.
Somatic cells undergo mitosis.
cells that divide to form eggs are germ cells
germ cells undergo meiosis
cells that divide to form sperm are germ cells
somatic cells undergo mitosis
the end result of mitosis
two cells with the same genetic content as the parent cell
dna replication and cell division
dna replication begins
sister chromatids are created
sister chromatids are condensed
replicated chromosomes line up along the middle of the cell
sister chromatids separate
newly individual chromosomes move to opposite sides and new nuclei begin to form
why is it important that DNA has replicated before the beginning of mitosis, which is when chromosome compaction occurs
the cell is only large enough to hold sister chromatids during interphase
gene transcription needs to occur during mitosis which is easier when chromosomes are compact
DNA replication machinery would not be able to access the DAN if it was already compacted
replicated copies need to move during early mitosis which is easier if they are compacted
DNA replication machinery would not be able to access the DNA if it was already compacted
replicated copies need to move during early mitosis which is easier if they are compact
a cell with 6 chromosomes starts mitosis. how many chromatids would be present in this cell during metaphase
12
what happens at the start of meiosis i is exactly what happens at the start of mitosis
false
what happens in the middle phase of meiosis I is identical to what happens in the middle phase (metaphase) of mitosis
false
the events that happen in meiosis I explain why meiosis is a reduction division. at the start of meiosis I, the cell is diploid: it has two of each chromosome type and homologous pairs present. at the end, each daughter cell is haploid
true
what happesn in the middle of meiiosis II is just what happens in the middle phase of mitosis, except that the cell is haploid instead of diploid
true
what happesn at the ed of meiosis II is just what happesn at the end of mitosis (anaphase and telophase) except that the cell is haploid instead of diploid
true
Meiosis II happens in the same way and at the same time in both daughter cells of Meiosis I. After both rounds of meiosis, how many daughter cells in total are produced by the single parent cell, which was diploid and had replicated chromosomes?
4
which three statements best describe the events that occur after homolgos synapse, early in meiosis I?
After crossing over and recombination, sister chromatids are no longer identical--they each carry a unique combination of alleles.
Crossing over is an appropriate term because the maternal and paternal physically cross each other (they look like an X under the microscope!).
Recombination is an appropriate term because the chromosomes that result have a new combination of alleles--a mix of maternal and paternal.
Crossing over and recombination are key aspect of mitosis.
after crossing over and recombination, sister chromatids are no longer identical- they each carry a unique combination of alleles
crossing over is an appropriate term because the maternal and paternal physically cross each other (they look like an X)
recombination is an appropriate term because the chromosomes that result have a new combination of alleles - a mix of maternal and paternal
In humans, n = 23. How many different unique combinations of maternal and paternal chromosomes are possible, each time meiosis occurs?
2 x 23 = 46
23^2 = 529
2^23 = 8,388,608
2²3 - 8,399,608
Which statements accurately describe genetic variation generated in meiosis? Select all that apply.
At the end of Meiosis I, the two daughter cells are different genetically.
The two daughter cells from each instance of Meiosis II are genetically identical even when crossing over occurs, because all that happens is that sister chromatids pull apart.
If cells have different combinations of maternal and paternal chromosomes, they have different genotypes (remember that a genotype is a listing of the alleles present in a cell).
at the end of meiosis I, the two daughter cells are different genetically
if cells have different combinations of maternal and paternal chromosomes, they have different genotypes
Consider the similarities and differences between meiosis and mitosis. Which statements accurately describe both processes? Select the three best answers.
The essence of mitosis is: Copy DNA, send one copy to each daughter cell.
Both mitosis and meiosis require two rounds of division to be complete, meaning that in each process a single starting cell produces a total of four daughter cells.
Meiosis II is essentially the same process as mitosis, except for two things: cells are haploid in Meiosis II, and in Meiosis II sister chromatids are no longer genetically identical.
In mitosis, sister chromatids crossover and recombine. In meiosis, non-sister chromatids crossover and recombine.
The most important difference between meiosis and mitosis is that homologs synapse in meiosis but stay independent of each other in mitosis
DNA replication occurs before mitosis, before Meiosis I, and then again before Meiosis II.
the essence of mitosis is: copy DNA, send oen copy to each daughter cell
meiosis II is essentially the same process as mitosis except for two things; cells are haploid in Meiosis II, and in Meiosis II sister chromatids are no longer genetically identical
in mitosis, sister chromatids crossover and recombine, in meiosis, non-sister chromatids crossover and recombine
the most important difference between meiosis and mitosis is that homologs synapse in meiosis but stay independent of each other in mitosis
crossing over nad recombination
an exchange of genetic information taking place between two non-sister chromatids
biparental inheritance
when offspring receive one maternal copy and one paternal copy of each gene
synapsis
the process of homologous chromosomes pairing up and aligning in prophase I
chiasma
the points along the synapsed homologous chromosomes at which their chromatids connect: the sit of crossing over and recombination
bivalent/tetrad
present during meiosis I; consists of two homologous chromosomes and four total chromatids
mature sperm and eggs
are the products of mitosis
undergo meiosis
undergo mitosis
are the products of meiosis
are the products of meiosis
The X and Y chromosomes align during metaphase I of meiosis
due to a pseudoautosomal region that is similar between the X and Y chromosomes.
because the X and Y chromosomes are linked to one another.
because the X and Y chromosomes contain nearly all of the same genes.
because the chromosomes are similar in size.
due to a pseudoautosomal region that is similar between the X and Y chromosomes
Which of the following events does NOT occur during a normal meiosis?
Homologous chromosomes separate during meiosis I.
Two haploid gametes fuse to form a diploid cell.
Sister chromatids separate during meiosis II.
One diploid cell produces four haploid cells.
two haploid gamete fuse to form a diploid cell
DNA replication occurs
before mitosis and meiosis
during mitosis and meiosis
during mitosis and before meiosis
before mitosis and both before and during meiosis
before mitosis and meiosis
which term is a broad category of cells that make up the body and undergo mitosis
somatic cell
egg cell
germ cell
sperm cell
somatic cell
steps of spermatogenesis in order
spermatogonium
primary spermatocyte
secondary spermatocyte
spermatid
sperm
how many homologous pairs of chromosomes are in each human sperm after completion of meiosis
0
which sex chromosome can be found in a human male gamete (sperm cell) that has undergone normal meiosis
either X or Y
A spermatocyte goes through meiosis I and meiosis II to produce four sperm. Thinking just about the sex chromosomes and how they segregate during meiosis, which of the following statements is true?
2 of the 4 sperm will contain an X chromosome and 2, a Y chromosome, because the X and Y chromosomes act as homologous chromosomes during meiosis I.
Each sperm will contain an X chromosome and a Y chromosome because the X and Y chromosomes assort independently of each other.
2 of the 4 sperm will contain an X chromosome and 2, a Y chromosome, because the X and Y chromosomes act as sister chromatids during meiosis II.
2 of the 4 sperm will contain an X chromosome and 2, a Y chromosome, because the X and Y chromosomes act as homologous chromosomes during meiosis I.
which types of cells can undergo meiosis
germ cells
somatic cells
both
germ cells
why is the separation of chromosomes in meiosis I considered a reduction in ploidy for the daugther cells
because there is only one chromosome of each type