Gene Regulation

Question 1

Wilms Tumor

Answer 1

WT1 loss of function. nephroblastoma. solid kidney (abdominal) tumor. abdominal pain, blood in urine. WT1 gene is a repressor (binds promoter, blocks transcription of proto-oncogenes). WT1 loss of function mutation –>oncogenic. inherited or sporadic.

surgery, chemo. good prognosis

Question 2

Pit-1 loss of function

Answer 2

Pit-1 is transcription factor. activates growth hormone and prolactin. mutation: short stature, low GH