HOX Genes Flashcards
HOXa7 transgenic expression causes?
Craniofacial abnormlaities
2 Vertebra are swapped around
HOXa4 transgenic expression causes?
Megacolon
HOXd4 transgenic expression causes?
Homeotic transformation of skull bones
Knockout of HOXa3 causes
Severe head and throat abnormalities
Knockout of HOXc8 causes
Extra rib on lower vertebra
Knockout of HOXa11 OR HOXd11
Regional bone abnormalities but not that bad
Knockout of HOXa11 AND HOXd11
Radius and Ulna are missing
Homeotic transformations of the vertebra
Severe kidney defects
HOXd13 mutation in humans
Spynolydactyly
Semi dominant mutations causes gain of function
HOXa13 mutation in humans
Hand foot and genital syndrome
Dominant, nonsense mutations
gain of functions
Describe the HOX mutation in breast cancer
HOXa5 regulates p53 –> hypoermethylation of HOXa5 promoter causes decreased p53 expression
Describe HOX mutation in AML
t(7:11) forms a NU98-HOXa9 fusion oncogene!
What lncRNA controls UBx epxression
bxd
How does bxd control UBx expression
2 theories:
1) recruits trxG that promotes its own transcription and silineces Ubx
2) Brings trxG proteins to the Ubx promoter thus promoting Ubx transcription
What does HOTAIR lncRNA control the expression of
it blocks expression of the posterior HOXd cluster
Where is HOTAIR lncRNA expressed from
Between HOXc11 and HOXc12