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New Category "Genes with potential FA involvement" #50

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dnahotline opened this issue Sep 25, 2017 · 0 comments
Open

New Category "Genes with potential FA involvement" #50

dnahotline opened this issue Sep 25, 2017 · 0 comments

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@dnahotline
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Add the BTB/POZ gene FAZF https://www.omim.org/entry/605859
background:
FAZF is a transcriptional repressor related to PLZF. FAZF represses transcription of its (unknown) targets and reduces cellular proliferation in a context-specific manner. It supports proliferation in early hematopoiesis but limits proliferation after these cells differentiate.
Hypothesis is that FAZF functions during development of the organism (particularly in the formation of the digits) and during development of early progenitors in the hematopoietic compartment to allow proliferation early then limit proliferation once cells differentiate. When FA genes are defective, particularly FANCC, then FAZF inappropriately signals to repress transcription of targets genes resulting in reduced proliferation early in development of the digits leading to skeletal abnormalities (such as radial ray defects in FA), and in hematopoiesis leading to bone marrow failure.

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