Sex Determination

Question 1

Where is WT located?

Answer 1

11p13

Question 2

What is the function of WT?

Answer 2

It directs differentiation of mesonephros and genital ridge (proceeding gonadal development)

Question 3

Where is SOX9 located?

Answer 3

17q (17q24.3-17q25.1)

Question 4

WHat is the function of SOX9?

Answer 4

Important in sex regulation/ reversal

- Multiple elements bind SRY & Steroidogenic factor 1 (SF1)

Question 5

Where is SF1 located and what does it stand for?

Answer 5

9q33

Steroidogenic factor 1

Question 6

What is the function of SF1?

Answer 6

Orphan nuclear receptor protein
Expressed in developing gonads and other steroid producing tisues
Loss => adrenal hypoplasia & gonadal agenesis

Question 7

Where is DAX1 located?

Answer 7

X

Question 8

What is the function of DAX1?

Answer 8

leads to development of ovaries (even with SRY)
=> dosage sensitive sex reversal

Nuclear hormone receptor superfamily-> novel DNA binding at N terminus, nuclear hormone receptor binding at C terminus