Birth Defects Flashcards
what are the 2 calsses of transcription factors
unspecirfic
specific
unspecific transcription factors
found in thousands of transcriptional complexes
specific transcription factors
only function in specific cells at a specific time
what are transcription factors of HOX family involved in
patterning along the anterior posterio axis
mutations in HOXA13 disturb what
development of fingers and toes
morphogen
sustance secreted by cells in one part of the embryo
example of an important developmental morphgen
sonic hedgehog protein
where is Shh secreted from
notochrord and floorplate of developing neural tube
mutation affecting Shh signalling leads to waht
midline defects
what happens if yo utransplant a Shh secreting cell to anterior pole of limb
formation of posterioe elements at the anteior pole
for correct functioning the Shh protein has to interact with what
choelsterol
what causes smith-lemli-opitz syndrome
impairment of Shh signalling secondary to defect in choelsterol biosynthesis
symptom of smith lemi opitx syndrome
servere congenital malfromations
what happens if yo uhave a mutatio nof the LIS1 gene
lissencepharly, severe mental retardation
why is programmed cell death important in development
heart
separtion of digits
performation of anal and choanal membrane
establism connection between uterus and vagina
immune sytem
