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Figure 2 | BMC Medical Genetics

Figure 2

From: Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Figure 2

Alternative splicing of exons 24 and 25 generates nuclear and cytoplasmic isoforms of SNF2L. Alternative splicing of the SNF2L gene at the 3' end generates a transcript containing either the full sequence of exons 24 and 25, which encodes a shorter form of SNF2L without a nuclear localization signal (SNF2LΔNLS), or a transcript lacking 100 bp that encodes for a larger protein isoform (SNF2L) with an NLS (underlined). B. RT-PCR analysis demonstrated that both 3' variants are present in most cells and tissues examined, while the NLS isoform is predominant. M, marker; -D, no DNA template; -RT, no reverse transcriptase. Lanes 1–5, human cell lines and fetal brain sample as follows: 1, 293-HEK cells; 2, SH-SY5Y cells; 3, NT2 cells; 4, hNT neurons; 5, human fetal brain. Lanes 6–13, human brain regions including: 6, amygdala; 7, basal ganglia; 8, caudate nucleus; 9, cerebellum; 10, frontal cortex; 11, hippocampus; 12, pons; 13, thalamus. Lanes 14–20, human tissue samples including: 14, heart; 15, kidney; 16, liver; 17, ovary; 18, placenta; 19, skeletal muscle; and 20, testes. C. Indirect immunofluorescence imaging of 293 HEK cells transfected with FLAG-epitope tagged SNF2LΔNLS and SNF2L were stained with anti-flag antibody (green) or DAPI (blue). Note that SNF2LΔNLS encodes a protein that is localized exclusively in the cytoplasm while SNF2L is expressed only in the nucleus (arrows point to nuclei of transfected cells).

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