New Material for Final Flashcards
What are the 3 main signaling molecules in avian axis formation?
- Shh activates nodal and cerebus
- Nodal activates pitx2 > interacts with organ primordia > left side
- Cerebus -| BMP -| Nodal (Nodal becomes active)
- Lefty -| this whole interaction (becomes left side??)
See slide 6
What are the main players in mammal (mouse) axis formation?
Anterior: Devoid of Nodal. And BMP, Wnt, FGF are blocked
Posterior: Nodal, Wnt, BMP, FGF, RA are high
What are the main players in mammal (mouse) axis formation?
Mechanical stress at day 5.5 > embryonic growth becomes restricted and the embryo only grows in the proximal-distal direction
What determines the mammal (mouse) axis formation anterior-posterior?
Patterning from hox genes and somites
What determines the mammal axis of formation dorsal-ventral?
Inner cell mass > dorsal
Hypoblast cells > ventral
What determines the mammal axis of formation posterior-anterior?
Fluid flow: Right to left
Two cilia populations (yellow – Nodal (motile), green – Primary (nonmotile)
Yellow cilia rotate counterclockwise to create flow toward left
Nonmotile cilia on left bend, activating mechosensitive Ca receptors
Ca gradient ultimately leads to activation of “left genes” such as Pitx2, lefty, nodal
Axis formation mammal left and right?
Bulbus cottis divides backwards
Same with lungs
What happens week 1-11 (embryonic period)?
Wk 3 - fertilization
Wk 4 - implantation, 1st pregnancy test (3.5 wk)
What happens Wk 5-8 (organogenesis)?
Wk 5 - primitive streak, gastrulation, neurulation
Wk 6 - 1st heart beat, PGCs migrate
Wk 7 - optic cup & lens vesicle
Wk 8 - genital ridge appears, interventricular septum
Wk 9 - cell-free cell DNA testing
Wk 10 - hands/feet approach midline, chorionic villus sample (10-14wk)
What happens week 11-birth (fetal period)?
Wk 12 - end of 1st trimester Wk 16 - sex determination by Ultrasound, Amniocentesis possible Wk 22 - limit of viability Wk 28 - End of 2nd Trimetest Wk 37 - term Wk 40 - due date Wk 42 - post term (get this baby out!)
What did Aristotle say about sex determination?
… Claimed the sex of an individual was determined by the heat to the male partner during intercourse. The more heated the passion, the greater the chance of a male child….
What did Gaken say about sex determination?
“Just as mankind is the most perfect of all animals, so within mankind, the man is more perfect than the woman, and the reason for this perfection is his excess heat, for heat is Nature’s primary instrument…the woman is less perfect than the man in respect to the generative parts. For the parts were formed within her when she was still a fetus, but could not because of the defect in heat emerge and project outside.”
When do human PGCs migrate?
5th-6th week
What is Klinefelter syndrome?
Male multiple X
Some men do not have obvious symptoms
Others exhibit: sparse body hair, enlarged breasts, wide hips, the penis does not reach adult size, testicles remain small, voices may not be as deep, cannot father children, have a normal sex life
What is Turner’s syndrom?
Missing/incomplete 2nd X
female X0
Characterized by short stature, lack of sexual development at puberty
May include a short neck with a webbed appearance, heart defects, kidney abnormalities
Great variability in the degree to which girls are affected
How is sex determined in Mammals?
Genital ridge develops into bipotential gonad
a) XY chromosome > gonad forming testis (sertoli, leydig cells). degradation of Mullerian duct. Mesonephric/Wolffian duct forms of internal. differentiation external genitalia
b) XX chromosomes > gonad forming ovary (granulosa, theca cells). Mullerian ducts forming internal genitalia. external genitalia form. loss of mesonephric/Wolffian duct.
Differentiation of gonad (male)
16-20 wk
- rete connects to epididymis (form from mesonephric tubules)
- Mesonephric/Wolffian Duct > Vas Degerens, epididymis
- Mesenchyme testis cells > Leydig
Puberty
- chords hollow at puberty = seminiferous tubules
- sertoli cells secrete anti-Mullerian hormone
Differentiation of gonad (male)
- The testes appear on the urogenital ridge (second month)
- The coelomic cavity evaginates into the scrotal swelling where if forms the processus vaginalis (middle of the third month)
- Testes begin descent into the scrotum guided by the gubernaculum (7th month)
- The processus vaginalis obliterates spontaneosly (shortly after birth)
Differentiation of gonad (female)
Germ cells on outer surface
Primary sex chords degenerate
Wolffian duct = nephric duct = vans & epididymis
Mullerian = off geneital ridge = oviduct uterus
What is the SRY gene?
Trangenic female + SRY has same genitalia as normal male
What are the 2 phases of secondary sex determination?
- Organogenesis
2. Puberty
What is the formation of male external genitalia?
Urogenital sinus - closes but forms the prostate
Genital tubercle - form glans penis (tip)
Labioscrotal fold/genital swelling - scrotum
Urethra starts as plate but folds inward to form tube running length of penis
How does the external female genitalia form?
Urogenital sinus - closes slightly but forms vaginal and urethral orifices, labia minor
Genital tubercle - clitoris
Labioscrotal fold/genital swelling - forms labia major
What are the hormones involved in the development of the male phenotype?
- Anti-Mullerian hormone (form sertoli)
- Testosterone (fetal Leydig & causes Wolffian duct primordial epididymus, vans degerenes, seminal vesicle)
- DHT (urethra, prostate, penis, scrotum. DHT appears to be more potent hormone than testosterone and is most active in prenatal and early childhood)
What is androgen insensitivity syndrome?
- XY w/ SRY gene
- have testes > testosternone
- no testosterone receptor
- respond to estrogen > female traits (external genitalia form, breast development)
- make AMH > no Mullerian duct = no uterus & oviduct & upper vagina
What is persistent Mullerian duct syndrome?
Both mesonephric components (vans deferens, epididymis) and Mullerian components (oviduct uterus) develop
Have cervix, uterus, oviduct
Vans deferens and male external genitalia
Female organs normal position, male vary
A. Testis in ovary position
B. 1 testis in abdomen, 1 in scrotum
C. both testis in scrotum
What is pseudohermaphrodism?
1 gonad but different secondary characteristics
Androgen insensitivity syndrome
Congenital adrenal hyperplasia (overexpression of testosterone-like hormones)
What is true hemaphroditism?
2 gonad types
What are the truths about hermaphroditism?
- Typically Y translocated to X chromosome
- If cell Y on active X = Y transcribed = male gonadal tissue
- If cell gets Y on inactive X = not transcribed = female
How do breasts form?
Raised epithelia form = mammary ridges run large portion of body, most lost in humans
a. mammary buds - cells collect in the center of the ridge. prior to birth - bud cells proliferate rapidly = cords
b. chords open @ skin = forme nipples and start branching @ base. Arrest until puberty, develop in females
Males
sex differentiation doesn’t begin until about week 8, thus nipples already formed
Once sex diff. begins, buds disappear and fail to form cords, but nipples left
Male same as female early, but cord degenerates & no ducts form
Breast formation in 3 steps
- Normal development with the formation of bud that branches
- Female + testosterone - bud initially forms (middle) but later degenerates (similar to what is seen in males)
- Male with no testosterone - follows female path