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multipotent
germ layer cells
level of most adult stem cells
totipotent
can form any cell in body and placenta
pluripotent
can form any cell except for placenta
cells in the inner cell mass
limited differentiation potential
progenitor cells
limited division cell
precursor
stem cell niche
where stem cells live in adults
low turn over adult stem cells
skeletal muscle and brain
high turnover adult stem cells
mesenchymal stem cells
intestine
hematopoietic
epidermis
how are stem cells regulated most of the time
extracellular mechanism →intracellular changes (epigenetic/transcription regulation)
(paracrine/endocrin/juxtacrine signaling, extracellular matrix adhesion (mechanical force), neurotransmitters)
what influences mesenchymal stem cell differentiation
elasticity of the matrices where it sits
low elasticity (0-3 kPa)
neuron
mid elasticity (4-60)
muscle
high elasticity
bone
where do embryonic stem cells come from
the inner cell mass of a blastocyst
oct3/4
acts on nanog, tells cell to remain pluripotent
c-Myc
opens up chromatin
Klf4
prevents cell death
yamanaka factors
oct 3/4, c-Myc, sox2, klf4
transcription factors given to induce pluripotent stem cells
organoid
cell cultures made in a lab that can mimic an organ, created by giving pluripotent stem cells transcription factors necessary for typical organ development
stem cell potential
range of cell types a stem cell can produce
mesenchymal stem cells
found in a variety of tissues as both stem cell and supportive cell
mullerian duct
persists through development in males, disappears in females
becomes vas deferens, epididymis, seminal vessicle
wolffian duct
persists through development in females, disappears in males
becomes oviduct, uterus, cervix, top of vagina
seminiferous tubules
where sperm is produced
follicles
contains/makes egg
how many chromosomes do humans have
46
44 autosomal, 2 sex
beta-catenin, rspo1, wnt4
important factors for development of female sex characteristics
granulosa and thecal cells
cells that make up the follicles in the ovaries
estrogen
important for development of female internal and external genitalia
sry
on the y chromosome, turns on sox9
sox9
kickstarts male sex development
sertoli cells
in the testes, release amh
amh
causes regression of the mullerian duct
leydig cells
in the testes, produce testosterone
testosterone
forms male internal genitalia and promotes dht
dht
important for development of external male genitalia
4 week development (sex determination)
bipotential gonads (could develop into male or female)
initial sex chords form
6 week development (sex determination)
primary sex chords formed, still bipotential
8 week male
testes development
20 week male
seminiferous tubule and spermatogonia formed in teste
8 week female
ovary development
20 week female
oogonium have formed (precursor to oocyte)
what happens when a female mouse in transgenic for sry
sox 9 is activated and the mouse exhibits male phenotypes
androgen insesitivity syndrome
people with xy chromosomes that present female
have internal testes and female secondary sex characteristics
what causes androgen insensitivity syndrome
loss of androgen receptor which plays a key role in the testosterone and male development pathway
barr bodies
an inactivated x chromosome to regulate dosage of genes on the chromosome
inactivated at random
temp dependent sex determination
heat affects ion channels which then activate a signaling pathway which acts on transcription factors to determine what sex is expressed in the animal
for reptiles
external fertilizaiton
egg is released into environment and is then fertilized
internal fertilization
fertilization happens inside the body
sea urchin egg
~10x larger than sperm
vitlline envelope
extracelluar matrix surrounding membrane
jelly coat
extracellular matrix around vitilline envelope
what is in externally fertilized eggs
nutritive proteins, ribosomes, tRNA, morphogenic factors, and protective chemicals
cortical granule
contains enzymes released after fertilization which prevents polyspermi
cumulus
folic that supports the egg
ovum
egg
zona pellucida
present in mammals, similar to vitalline envelope in sea urchins
sperm contacts jelly layer
first step of external fertilization
acrosome reaction
second step in external fertilization
acrosomal membrane dissolves and releases acrosomal enzymes, actin forms a needle like structure in their place at head of sperm and bindin coats the membrane around the actin
digestion of jelly layer
third step of external fertilization
binding to vitelline envelope
fourth step of external fertilization
fusion of acrosomal process and membrane of egg allowing sperm to fertilize
fifth step of external fertilization
how is cross species fertilization prevented in external fertilization
sulfated polysaccharides characterize the jelly coat and are specific to a species, these polysaccharides induce the acrosome reaction
sperm are attracted to eggs bases on proteins released by them that are species specific
bindin is species specific
bindin
binds sperm to egg surface and is species specific
polyspermi
egg is fertilized by multiple sperms
how do sea urchins prevent polyspermi
when a sperm makes contact with the egg there is a dramatic change in its charge due to influx of calcium. This positive charge prevents more sperm from binding to the egg
how do eggs get rid of excess sperm to prevent polyspermy
when sperm makes contact to egg, cortical granules containing digestive enzymes are released into the environment modifying zona pellucida so it can no longer bind to sperm
initiated by a wave of calcium across the egg
hyaline layer
formed by/after cortical granule exocytosis to prevent polyspermy
where does fertilization happen in mammals
in the oviduct
what role does progesterone play in fertilization
allows for rapid influx of calcium which generates hyperactive sperm
izumo protein
recognizes juno protein on microvilli of egg and allows for sperm-egg fusion and entry into cell
capacitation of sperm
recognize cues to be guided to egg, undergo acrosome reaction, fuse with egg cell membrane
thermotaxis
sperm swim towards warmer environment (further with into fillopian tube)
chemotaxis
sperm follow concentration gradient released by egg
e-cadherin
upregulated at 8 cell stage to induce compaction
implantation
embryo must ‘hatch’ from the zona pelllucida in order to implant into the endometrium of uterus
primitive groove/ primitive streak
homologous to blastula lip
organizer region
node
part of the primitive streak
causes neural induction and pattern the anterior-posterior axis
AVE
positions the primitive streak
what plays a role in activating hox genes
retinoic acid, wnt3, and fgf8 (posterior patterning)
nodal
regulates pitx2
pitx2
transcription factor that controls location of non-symmetrical structures (lung and heart)
what is the level of conjoined twins based on
where the primitive streak breaks
embryonic period
1-8 weeks
fetal period
9 weeks through the rest of them
how man pregnancies come to full term
~30%
how many pregnancies are born with congenital defect
~2.5%
syndrome
several symptoms that occur together
pleiotropy
idea that one gene has multiple effects
mosaic pleitropy
effects of the gene are produced independently
relational pleiotropy
defects in one part lead to other problems inderectly
genetic heterogeneity
mutations in different genes can result in the same phenotype
phenotypic heterogenity
mutation in the same gene can result in different phenotypes for different individuals because genes interact with eachother
smn gene
mutation causes spinal musclular atrophy
translocations
one piece of a chromosome breaks off and is translocated to another chromosome
preimplantation genetics
genetic tests are run on cells taken from the blastocyst
in vitro fertilization
egg fertilized outside of uterus then implanted in
teratogens
agents from outside the embryo that can effect it