S. Appel et al., Identification and localization of a new human myotubularin-related protein gene, MTMR8, on 8p22-p23, GENOMICS, 75(1-3), 2001, pp. 6-8
Myotubularin and myotubularin-related proteins are dual-specificity phospha
tases. Several myotubularin-related proteins have been identified in humans
and mice. The members of the myotubularin protein family are highly conser
ved, from humans to yeast. Mutations in the human myotubularin gene (MTM1)
lead to X-linked myotubular myopathy. Here we isolate and localize a novel
putative myotubularin-related protein gene (MTMR8) on chromosome 8p22-p23,
between the markers D8S550 and D8S265, by exon-trapping experiments and RT-
PCR. Genomic sequencing revealed that the gene consists of 10 exons and spa
ns approximately 43 kb. The corresponding cDNA is 7081 bp. The open reading
frame predicts a protein of 549 amino acids and a calculated molecular mas
s of 63 kDa. Like myotubularin-related protein-5, MTMR8 has no dual-specifi
city phosphatase domain. It contains a double-helical motif similar to the
SET interaction domain, which is thought to have a role in the control of c
ell proliferation.