diploid (2n)
two copies of each chromosome; autosomal cells
haploid (n)
one copy of each chromosome; viruses, gametes
cell cycle
a series of phases during which a (eukaryotic) cell grows, synthesises DNA, and divides
four stages: G1, S, G2, M
cancer
can be caused by derangemnts of the cell cycle
interphase
first three stages of cell cycle collectively; longest part of cell cycle - 90% of time spent; DNA in chromatin - not visible by light microscopy
G0 phase
phase for cells that don’t divide; offshoot of G1; simply living and carrying out functions without preparation for division
chromatin
less condensed form of DNA available for gene transcription
G1 phase
cells create organelles for energy and protein production; increases in size
restriction point
cell cycle checkpoint in the G1 phase of the animal cell cycle at which the cell becomes "committed" to the cell cycle; certain criteria (contain proper complement of DNA, etc) must be met to pass
S phase
cell replicates it’s genetic material for daughter cells; each chromosome has two chromatids; but still keeps ploidy
chromatid
a DNA molecule that is one half of a replicated chromosome
96 chromatids but still 46 chromosomes
centromere
the region where chromatids are bound together
G2 phase
cell checks for DNA replication. organelles and cytoplasm
M phase
mitosis & cytokinesis
p53
main protein in charge of restriction point; a regulatory protein that prevents cancer formation by binding to DNA and regulating gene expression
cyclins
proteins that control the progression of a cell through the cell cycle by activating cyclin-dependent kinases (CDK); concentrations of the various cyclins increase and decrease during specific stages; cyclins bind to CDKs, creating an activated CDK–cyclin complex
cyclin-dependent kinases (CDK)
predominant group of protein kinases involved in the regulation of the cell cycle and its progression; require the presence of certain cyclins; cyclins bind to CDKs, creating an activated CDK–cyclin complex, which phosphorylate transcription factors
Transcription factors
a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence
cancer
a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body; when cell cycle control goes amiss and/or damaged cells are allowed to undergo mitosis
TP53
mutation of the gene that produces p53; fails to appropriately stop cell cycle to repair damaged DNA; allows mutations to accumulate and cancer cells to divide continuously
tumor
a mass of abnormal and excessive growth of tissue; originates from neoplasm; disease that causes tumors is called cancer
metastasis
local invasion/distant spread of cancerous cells through bloodstream/lymphatic systems; possible if cancer cells can produce proteases that digest basement membranes or factors that prompt blood vessel growth
oncogenes
genes that actively promote cell division when mutated
tumor suppressor genes
genes that lose their ability to regulate or arrest the cell cycle when mutated
Mitosis
process by which two identical daughter cells are created from a single cell; somatic cells
prophase
first phase in mitosis; condensation of chromatin into chromosomes; centriole pairs separate and move toward opposite poles
centrosome
location of centrioles, outside the nucleus
spindle fibers
formed by centrioles; made of microtubules
centrioles
paired cylindrical organelles; responsible for correct division of DNA
microtubule organizing centers
centrosome and basal body of flagellum/cilium
aster
a cellular structure shaped like a star, consisting of a centrosome and its associated microtubules during the early stages of mitosis
Kinetochores
protein structures on the centromeres that serve as attachment points for the (kinetochores) fibers of the spindle apparatus
spindle apparatus
the cytoskeletal structure of eukaryotic cells that forms during cell division to separate sister chromatids between daughter cells
metaphase
centriole pairs at opposite ends; kinetochore fibers align the chromosomes at the equator
metaphase/equatorial plate
plane which chromosomes line up, equidistant from the poles of the cell
anaphase
centromeres and sister chromatids split so each chromatid has its own centromere; pulled toward the opposite poles of the cell by shortening kinetochore fibers
telophase
reverse of prophase; spindle apparatus disappears; nuclear membrane and nucleoli reform around each set of identical chromosomes; chromosomes uncoil
cytokinesis
end of telophase; separation of cytoplasm and organelles
Number of divisions in life
human somatic cells: 20-50
somatic cells
cells uninvolved in sexual reproduction
gametocytes (germ cells)
precursors to gametes, undergoes meiosis
gametes
sex cells; products of meiosis
Meiosis I
results in homologous chromosomes being separated, generating haploid daughter cells
Meiosis II
similar to mitosis; without additional duplication
reductional division
divison reducing ploidy
equational division
division maintaining ploidy
homologues/homologous pairs
a pair of chromosomes that have the same genes in the same loci, one inherited from each parent
prophase I
the chromatin condenses into chromosomes, the spindle apparatus forms, and the nucleoli and nuclear membrane disappear, synapsis
synapsis
homologous chromosomes come together and intertwine
tetrad
two sister chromatids/four chromatids
synaptonemal complex
group of proteins that hold together homologous chromosomes
chiasma (pl. chiasmata)
point of contact of homologous chromosomes where they cross over
crossing over/crossovers
homologs interact at chiasmata and exchange equivalent pieces of DNA; characterized by the number of crossover events that occur in one strand of DNA, ex. single crossovers, double crossovers, chromatids involved are left with an altered but structurally complete set of genes
genetic recombination
exchange of genetic material between different organisms which leads to production of offspring with combinations of traits that differ from those found in either parent
Linkage
the tendency for genes to be inherited together; genes that are located farther from each other physically are less likely to be inherited together, and more likely to undergo crossing over relative to each other
Mendel’s second law
independent assortment; the inheritance of one allele has no effect on the likelihood of inheriting certain alleles for other genes
metaphase I
homologous pairs (tetrads) align at the metaphase plate, and each pair attaches to a separate spindle fiber by its kinetochore
anaphase I
homologous pairs separate and are pulled to opposite poles of the cell
disjunction
separation of chromatids/homologs
Mendel’s first law
segregation; the distribution of homologous chromosomes to the two intermediate daughter cells is random with respect to parental origin
telophase I
a nuclear membrane forms around each new nucleus; cells are now haploid; once homologous chromosomes separate, only n chromosomes are found in each daughter cell; cell divides into two daughter cells by cytokinesis
interkinesis
a short rest period between cell divisions during which the chromosomes partially uncoil
Nondisjunction
homologous chromosomes (anaphase I) or sister chromatids (anaphase II) fail to separate, one of the resulting gametes will have two copies of a particular chromosome and the other gamete will have none
autosomal nondisjunction: trisomy 21, resulting in Down syndrome
sex chromosome nondisjunction: Klinefelter and Turner syndromes
Meiosis II
very similar to mitosis in that sister chromatids are separated from each other.
prophase II
the nuclear envelope dissolves, nucleoli disappear, the centrioles migrate to opposite poles, and the spindle apparatus begins to form
metaphase II
the chromosomes line up on the metaphase plate
anaphase II
the centromeres divide, separating the chromosomes into sister chromatids, pulled to opposite poles by spindle fibers
telophase II
a nuclear membrane forms around each new nucleus; Cytokinesis follows, and two daughter cells are formed
Chromosomal sex
determined by the 23rd chromosomes, with XX being female and XY being male
X chromosome
carried by ovum and sperm; carries a lot of genetic information
sex-linked (X-linked) disorders
caused by mutations in X gene; mostly recessive
hemizygous
only having one copy of a gene,
i.e, males and X chromosome
carrier
carrying a diseased allele without exhibiting symptoms
i.e. females carrying one copy of sex-linked disorder
Y chromosome
can only be carried by sperm; contains very little genetic information, SRY gene → production of androgens → male sexual differentiation
SRY (sex-determining region Y)
codes for a transcription factor that initiates testis differentiation and, thus, the formation of male gonads
presence → male
abscence → female
testes
male gonads
contain the seminiferous tubules and interstitial cells of Leydig
seminiferous tubules
produce sperm, highly coiled
sperm
male gametes
Sertoli cells
nourishes sperm
interstitial cells of Leydig
secrete testosterone/androgens
testosterone
a specific androgen; increases dramtically during puberty; remains high to adulthood, then decreases
negative feedback on hypothalamus and anterior pituitary
androgen
male sex hormone
scrotum
external pouch that holds testes and hangs below the penis; allows it to remain 2-4°C lower than body
ductus deferens
muscle around vas deferens that can raise and lower the testis to maintain the proper temperature for sperm development
epididymis
after sperm are formed, move here; flagella gain motility; stored until ejaculation
ejaculation
release of sperm from penis
vas deferens
sperm travel through this after the epididymis
ejaculatory ducts
meet at the posterior edge of the prostate gland; fuse to form the urethra
urethra
how urine/sperm leaves the body
In males, the reproductive and urinary systems share a common pathway; this is not the case in females.
prostate
organ that produces some fluid for semen; mildly alkaline to combat the relatively acidic environment of the female reproductive tract; surrounds the urethra, under the bladder
enlarges with age - benign prostatic hyperplasia: higher urinary frequency, urgency, nighttime awakenings
seminal fluid
mixes with sperm; produced by seminal vesicles, prostate gland, bulbourethral gland
seminal vesicles
contribute fluid and fructose to nourish sperm; mildly alkaline to combat the relatively acidic environment of the female reproductive tract
bulbourethral (Cowper’s) gland
produces clear viscous fluid that clears out urine and lubricates the urethra during sexual arousal
semen
sperm and seminal fluid
spermatogenesis
occurs in the seminiferous tubules
Spermatogonium (pl. -ia)
undifferentiated diploid male sex stem cells
primary spermatocytes
male stem sex cells after S stage; diploid
primary spermatocytes
male stem sex cells after meiosis I; haploid
spermatid
male stem sex cells after meiosis II; haploid
spermatozoon (pl. -zoa)
mature male sex cells, aka sperm