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Figure 1 | BMC Medical Genetics

Figure 1

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 1

Genomic organization and 5' transcript variants of the human SNF2L gene. A. Schematic diagram showing the 25 exons (dark boxes; exon 13 is an open box) of the human SNF2L gene (top). Below is a schematic diagram of the SNF2L transcript showing the ORF (open box) and the location of the motifs that comprise the SNF2 domain (blue boxes) and the SANT domains (red boxes). B. The 5' variants SNF2LA and SNF2LB provide alternative initiation codons and encode two forms of SNF2L with different amino-termini. They are shown aligned to the mouse Snf2l sequence. The SNF2LB transcript encodes a protein with an amino-terminus similar in length and amino acid composition to the murine Snf2l protein. C. RT-PCR analysis showing that both transcript variants are present in human cell lines and fetal brain tissue examined. The helicase I/Ia domain served as control amplification. Lane 1, 293 cells; lane 2, SH-SY5Y cells; lane 3, NT2 cells; lane 4, hNT neurons; and lane 5, human fetal brain. M, molecular weight marker.

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