The FQKLL motif in Htt regulates steady state, degradation rate, and
subcellular localization.
A, sequential mutation of hydrophobic
amino acids to alanine (1A, AQKLL; 2A, AQKAL; 3A, AQKAA) produces a
progressive increase in the steady state level of HttN136YFP peptide with
unexpanded (Q25) or expanded (Q42) polyglutamine tracts. B,
pulse-chase analysis with quantification using densitometry indicates that
unexpanded (Q25) HttN136YFP has a shorter half-life (∼4 h) than
HttN136(3A)-YFP (∼13 h), implicating the role of the motif in protein
degradation. All of the gels are representative of at least three experiments.
norm, normalized band intensity/actin. C, HeLa cells were
transiently transfected with unexpanded (Q25) or expanded (Q42) HttN136YFP
containing wt or mutant (1A, 2A, 3A) motifs. For unexpanded HttN136YFP protein
(Q25), the motif causes subcellular localization in discrete puncta, and the
3A mutation leads to diffuse distribution. For the expanded protein (Q42),
classical cytoplasm inclusions form (white arrow). However, the motif
causes additional subcellular localization in cytoplasm puncta (red
arrow). When the motif is mutated by single (1A), double (2A), or triple
(3A) alanine substitutions, localization to these puncta is progressively
disrupted, whereas the inclusions remain. Scale bars, 10 μminthe
top row and 20 μminthe lower rows.