para 6

para 6

Clinical Significance: Disruption of TF Function

layout

tf function disrupted

synpolydactyly

where the mutation occurs and what it leads to

loss of func mutations

When transcription factor function is disrupted, the results are often

severe developmental syndromes or "chromatinopathies"

Synpolydactyly is caused by

a polyalanine repeat expansion in the HOXD13 gene

This mutation occurs in ,

an intrinsically disordered region of the protein

This mutation occurs in an intrinsically disordered region of the protein, leading to

the formation of "condensates"

the formation of "condensates" do what

sequester HOXD13 and prevent it from interacting with transcriptional activators

transcriptional activators like

Mediator

full sentence 3

This mutation occurs in an intrinsically disordered region of the protein, leading to the formation of "condensates" that sequester HOXD13 and prevent it from interacting with transcriptional activators like Mediato

loss-of-function mutations where?

in PAX6

loss-of-function mutations in PAX6 lead to ,

aniridia (absence of the iris) in humans

aniridia (absence of the iris) in humans

mirrors

the eyeless phenotype in flies

aniridia (absence of the iris) in humans

underscores

the absolute requirement of these factors for normal morphogenesis

full sentence 4

Furthermore, loss-of-function mutations in PAX6 lead to aniridia (absence of the iris) in humans,

mirroring the eyeless phenotype in flies

and underscoring the absolute requirement of these factors for normal morphogenesis