2.6 The Mysteries of Sex Determination Pt.1 Flashcards
Sex determination refers to?
the development of characteristics which allow an individual to be identified as male or female
- reproductive system: testis vs. ovaries
- external phenotype
- behavior: hormone induced
- metabolism
In mammals which chromosome determines sex?
Y
Female chromosome =
XX
Male Chromosome =
XY
Since females are XX, all oocytes carry a __ chromesome
X
Males are XY, so sperm can carry ?
Sperm can carry an X or a Y chromosome
What determines the sex of the embryo?
Sperm content
Formation of ovaries or testes is an ____ process?
active gene-directed process (no default state
early embryonic gonad is?
bi- potential
When can sex differentiation occur?
week 7 of development
What are the 2 systems of ducts?
wolffian - male
mullerian - female
What is the development of male duct dependent on?
hormones
Which duct phenotype is the default?
female duct phenotype
- predominates in the absence of fetal testis
- remove bi-potential gonads, the female reproductive system develops
How to make a male?
The Y chromosome determines male sex
SRY gene:
- 140 kb sex-determining region on Y chromosome
- encodes transcription factors that activate testis formation
___ is a testis determining factor?
SRY gene
Testis determination factor protein:
- encoded by SRY gene
- testicular development: Sertoli and Leydig cell proliferation
- activates SOX-9 gene
SOX- 9: sertoli cells
- induce steroidogenic factor 1 (Sf1)
- upregulate anti-mullerian hormone (AMH)
SOX- 9: Leydig cells
- induce steroidogenic factor 1 (Sf1)
- increases testosterone production
What happens to XX humans with extra copy of SOX-9 gene?
they develop as males despite SRY absence
In humans, SRY and SOX-9 genes stimulate:
the bipotential gonad to form testis
What 2 hormones does the testis produce?
-Testosterone
-Anti-mullerian hormone
Testosterone:
- forms external male penis from urethral folds
- wolffian duct becomes the internal male reproductive system (epididymis, vas deferens
anti-mullerian hormone:
degeneration of mullerian duct
What do females not have that males do?
Y chromosome (SRY gene )
What are the 2 ovary determining factors?
-DAX1 gene
-WNT4 gene
DAX1 gene:
Identified in XY females
- normal Y chromosomes
- duplication in the DAX1 region of the X chromosome
DAX 1 gene disrupts?
SRY function
- dysfunctional testis
DAX1 down-regulates:
Testis Sf1 expression
- testis can’t produce teststerone
- mullerian ducts predominate
WNT4 gene:
- expressed in bi-potential gonad
- undetectable in the XY gonad
- maintained in XX gonad
- XX WNT4 knock-out mice have abnormal ovaries