Exon 3 deletion analysis and A1338G patient mutation analysis.
A, GH3 cells were transiently transfected with either wild-type GH1
or ESE2-deleted GH1 (ΔESE2) in the presence or absence of SC35
overexpression. Spliced product formation was determined as above. B,
GH1 exon 3 illustrating the deletion constructs. ESE1 is illustrated by a
light gray box, and ESE2 is illustrated by a dark gray box.
Note that Δ5 is the same as ΔESE2. C, GH3 cells were
transiently transfected with the deletion mutants above in the presence or
absence of SC35 overexpression and spliced products were analyzed as above.
D, GH3 cells were transiently transfected with either wild-type or
the Δ6 GH1 construct in the presence of increasing amounts of SC35 (100,
500, and 1500 ng). E, GH3 cells were transiently transfected with
either the A1338G patient mutation or a GH1 construct containing both the
A1338G mutation and the Δ6 mutation in the presence or absence of SC35
overexpression.