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law of segregation
homologous alleles (CHMs) separate so that each gamete has one copy of each gene (either P (purple) or p (white))
law of independent assortment
alleles of unlinked genes assort independently in meiosis (AB, Ab, aB, ab)
patterns of inheritance
autosomal recessive
autosomal dominant
x-linked (sex-linked)
autosomal recessive
may skip generations
autosomal dominant
appears in every generation
x-linked (sex-linked)
no male-to-male transmission, and more males are affected
nucleic acid basic unit
nucleotide: sugar, nitrogenous base, phosphate
DNA’s sugar vs RNA’s sugar
deoxyribose vs ribose
2 types of bases
double-ringed purines (adenine, guanine)
single-ringed pyrimidines (cytosine, uracil, thymine)
DNA double helix vs RNA strand
antiparallel strands joined by base pairs (A=T, G=C)
single stranded, A=U (not T)
who is transcriptional regulation done by? what regulates it?
prokaryotes
operon
structural genes
have DNA that codes for protein
operator genes
repressor binding site
promoter gene
RNA polymerase’s 1st binding site
inducible system vs repressible system
need an inducer for transcription to occur vs. need corepressor to inhibit transcription
point mutation
one nucleotide is substituted by another; silent if the sequence of AA doesn’t change
frameshift mutations
insertions or deletions DNA bases in numbers not divisible by three
proteins doesn’t form/nonfunctional
viruses
acelular structures of double- or single- stranded DNA or RNA in a protein coat
lytic cycle vs lysogenic cycle
virus kills the host cell vs virus enters host genome
plasmid vs episome
extragenomic material; replicates independently
plasmid that can be integrated into the genome; replicated alone w/ genome
three types of genetic exchange
transformation
conjugation
transduction
transformation
bacterium acquires a piece of genetic material from environment and integrates genetic material into host cell genome (ex: antibiotic resistance)
conjugation
bacterial form of mating using bridge of sex pilli which are formed using plasmids (sex factors)
transduction
bacteriophage acquires genetic information from a host cell (ex: some genetic material from host cell packaged w/ viral genetic material and transferred to other host cell)
alleles
alternative forms of a gene
dominant: needs one copy to be expressed
recessive: needs 2 copies to be expressed
genotype
combination of alleles at a given genetic locus
homozygous: two of same allele
heterozygous: two different alleles
hemizygous: only one allele (male XY chm)
silent mutation
no effect on protein
missense mutation
substitution of one AA for another
nonsense mutation
substitution of a stop codon for an AA
insertions/deletions
result in a shift in reading frame, leading to changes for all downstream AAs
nucleus
contains all genetic material necessary for replication of cell
mitochondrion
-pyruvate dehydrogenase, Kreb cycle, ETC, oxidative phosphorylation, ATP production occur here
lysosome
membrane bound-structure containing hydrolytic enzymes capable of breaking down many different substrates
RER
site of synthesis of proteins destined for insertion into membrane or secreation
SER
lipid synthesis and detoxification occurs
Golgi apparatus
posttranslational modification of proteins
peroxisomes
contains hydrogen peroxide
site of beta-oxidization of very long chain of fatty acids
Cell division cycle
G1: cell inc. in organelles and cytoplasm
S: DNA replication
G2: same as G1
M: cell divides in two
four stages of early development
-cleavage: mitotic division w/out inc. overall size
-gastrulation: blastula forms three distinct primary germ layers: ecoderm, endoderm, mesoderm
-neurulation: precursor to central nervous system
-organogenesis - germ layers differentiate
ectoderm
nervous system, epidermis, lens of eye, inner ear (“attract” oderm)
endoderm
lining of digestive tract, lungs, liver and pancreas (“endernal” organs)
mesoderm
muscles, skeleton, circulatory system, gonads, kidney (“means” oderm)
cell body (soma)
location of nucleus as well as organelles such as endoplasmic reticulum and ribosomes
dendrites
appendages that receive signals from other cells
schwann cells
-insulate nerve fibers (axons) by forming fatty myelin sheaths
-provide nutrients and aid in ner regeneration
nodes of ranvier, myelin sheath
-unmyelinated gaps packed with voltage-gated ion channels; allows signal to jump from node to node
-insulating, fatty layer; speed up nerve signals
axon
long appendage down which an action protential travels
nerve terminals/synaptic bouton
end of axon from which neurotransmitters are released
resting potential
-high [Na+] outside cell; hight [K+] inside cell by Na+/K+ ATPase
-mvmnt of ions down [] gradient through leak channels est. this
action potential
stimulus acting on the neuron, depolarizing the membrane of the cell body
impulse propagation
depolarization (Na+ rushing into axon) followed by repolarization (K+ rushing out of axon) along the nerve axon
the synapse
-voltage-gated Ca2+ channels open; Ca2+ into cell
-vesicles fuse w/ presynaptic mem sending NT across synaptic cleft
-NT binds to receptor on postsynaptic mem, triggering depolarization
neuron at rest
all gates closed
depolarization
Na+ gates open
Repolarization
Na+ gates inactivate; K+ gates open
Hyperpolarization
K+ channel gates are closing
Follicle-stimulating (FSH)
anterior pituitary
stimulates follicle maturation; spermatogenesis
Luteinizing (LH)
anterior pituitary
stimulates ovulation; testosterone synthesis
adrenocorticotropic (ACTH)
anterior pituitary
stimulates adrenal cortex to make the secrete glucocorticoids
thyroid-stimulating (TSH)
anterior pituitary
stimulates the thyroid to produce thyroid hormones
prolactin
anterior pituitary
stimulates milk production and secretion
endorphins
anterior pituitary
inhibits the perception of pain in the brain
growth hormone
anterior pituitary
stimulates bone and muscle growth/lipolysis
oxytocin
hypothalamus; stored in posterior pituitary
stimulates uterine contractions during labor, milk secretion during lactation
antidiuretic (ADH, vasopressin)
hypothalamus; stored in posterior pituitary
stimulates water reabsorption in kidneys
thyroid hormones (T3, T4)
thyroid
stimulates metabolic activity
calcitonin
thyroid
decreases (tones down) blood calcium levels
parathyroid hormone
parathyroid
increases blood calcium levels
glucocorticoids
adrenal cortex
inc. blood glucose level and dec. protein synthesis'; anti-inflammatory
mineralocorticoids
adrenal cortex
inc. sodium and water reabsorption in kidneys
epinephrine, norepinephrine
adrenal medulla
inc. blood glucose level and heart rate
glucagon
pancreas
stimulates conversion of glycogen to glucose in the liver; inc. blood glucose
insulin
pancreas
lowers blood glucose; increases glycogen stores
somatostatin
suppresses secretion of glucagon and insulin
testosterone
testes
maintains male secondary sex characteristics
estrogen
ovary/placenta
maintains female secondary sex characteristics
progesterone
ovary/placenta
promotes growth/maintenance of endometrium
melatonin
pineal
regulates sleep-wake cycles
atrial natriuretic peptide
heart
involved in osmoregulation and vasodilation
thymosin
thymus
stimulates T-cell development
sarcomere
-contractile unit of the fibers in skeletal muscle
-contains thin actin and thick myosin filaments
humoral immunity (specific defence) - active vs. passive
-a: AB are produced during an immune response
-p: AB produced by one organism are transferred to another orgnaism
humoral immunity components
B-lymphocytes (WBC)
memory cells
plasma cells
memory cells
remember antigen, speed up secondary response
plasma cells
make and release AB, which induce antigen phagocytosis
AB: IgG, IgA, IgM, IgD, IgE
cell-mediated immunity (specific defense) components
T-lymphocytes (WBC)
cytotoxic T-cells
helper T-cells
suppressor T-cells
memory cells
cytotoxic T-cells
destroy cells directly
helper T-cells
activate B- and T- cells and macrophages by secreting lymphokines
suppressor T-cells
regulate B- and T- cells to decrease anti-antigen activity
nonspecific immune response
includes skin, passages lined with cilia, macrophages, inflammatory response, and interferons (proteins that help prevent the spread of a virus)
three portal systems
blood travels through an extra capillary bed before returning to heart
liver (hepatic), kidney and brain (hypophyseal)
contraction - initiation
depolarization of neuron leads to an action potential
contraction - sarcomere shortening
-sarcoplasmic reticulum releases Ca2+
-Ca2+ binds to troponin on actin filaments
-tropomyosin shifts, exposing myosin-binding sites
-myosin binds, ATPase activity allows myosin to pull thin filaments towards the center of H zone, then ATP causes dissociation
contraction - relaxation
Ca2+ pumped back into the sarcoplasmic reticulum
fluid mosaic model
phospholipid bilayer with cholesterol and embedded proteins
Exterior: hydrophilic phosphate head grps
interior: hydrophobic fatty acids
cell theory four basic tenants
-all living things are composed of cells
-the cells is the basic functional unit of life
-cells arise only from preexisting cells
-cells carry genetic info (DNA)
three prokaryotic shapes
-cocci: spherical
-bacilli: rod-shaped
-spirilli: spiral-shaped
histone proteins
what DNA is wound around in eukaryotes to form nucleosomes
H2A, H2B, H3, H4
chromatin
DNA and its associated histone
heterochromatin vs euchromatin
dense, transcriptionally silent DNA vs less dense, transcriptionally active DNA