Tamberg L, Sepp M, Timmusk T, Palgi M. Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. Biol Open. 2015 Nov 30. PMID: 26621827.
From the abstract: "Pitt-Hopkins syndrome (PTHS) is caused by haploinsufficiency of
Transcription factor 4 (TCF4), one of the three human class I basic
helix-loop-helix transcription factors called E-proteins. Drosophila has
a single E-protein, Daughterless (Da), homologous to all three
mammalian counterparts. ... human TCF4 can rescue Da
deficiency during fruit fly nervous system development. ... We generated da transgenic fruit fly
strains with corresponding missense mutations R578H, R580W, R582P and
A614V found in TCF4 of PTHS patients and studied the impact of these
mutations in vivo. ... All
studied PTHS-associated mutations that we introduced into Da led to
similar effects in vivo as the same mutations in TCF4 in vitro. ... our Drosophila models of PTHS are applicable for further
studies aiming to unravel the molecular mechanisms of this disorder."