Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
UR Monani, JD McPherson, AHM Burghes - Biochimica et Biophysica Acta …, 1999 - Elsevier
Proximal spinal muscular atrophy (SMA) is caused by mutations in the telomeric (SMNT), but
not centromeric (SMNC), survival motor neuron gene. Here we have identified and analyzed
the two SMN promoters. We show that a 750-bp 5′-flanking fragment from each is capable
of driving expression from a reporter construct. Within this fragment, we define a∼ 200-bp
element that results in high expression in a motor neuron cell line. Sequence comparison of
a 3.4-kb upstream fragment from each gene shows minimal differences. Although these …
not centromeric (SMNC), survival motor neuron gene. Here we have identified and analyzed
the two SMN promoters. We show that a 750-bp 5′-flanking fragment from each is capable
of driving expression from a reporter construct. Within this fragment, we define a∼ 200-bp
element that results in high expression in a motor neuron cell line. Sequence comparison of
a 3.4-kb upstream fragment from each gene shows minimal differences. Although these …