GENE IMPACT ON PHENOTYPE

Question 1

Mutation=undifferentiated gonad

Answer 1

WT1

Question 2

what does the WTI gene stand for?

Answer 2

Wilms Tumor I gene

Question 3

involved in differentiation of Sertoli cells

induces migration and proliferation of cells into genital ridges

found in normal males and XX males

If inject this gene into an XX mouse, some develop testis, ducts and a penis

this gene most likely acts on and blocks a number of genes

Answer 3

SRY

Question 4

involved in testis cord formation and spermatogenesis

mutation results in hypogonadism in humans

in both genders

Answer 4

DAX1

Question 5

critical for testis formation

produced only in males

absence leads to campomelic dysplasia, so bowing of long bones

dies soon after due to respiratory distress

most XY lacking develop as female or hermaphrodite

Answer 5

SOX9

Question 6

expressed only in male testis

deletions lead to female phenotype in XY genotype

Answer 6

DMRT1

Question 7

involved in androgen synthesis

cofactor of SRY

absence/mutation=gonads develop but die

animals die due to lack of corticosterone

Answer 7

SF1

Question 8

production and response to testosterone and other hormones

Answer 8

5-reductase and androgen receptors

Question 9

azoospermia factor-microdeletions result may result in male fertility?

Answer 9

AZF