Identification and localization of a new human myotubularin-related protein gene, MTMR8, on 8p22-p23

Citation
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
Citations number
30
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENOMICS
ISSN journal
08887543 → ACNP
Volume
75
Issue
1-3
Year of publication
2001
Pages
6 - 8
Database
ISI
SICI code
0888-7543(200107)75:1-3<6:IALOAN>2.0.ZU;2-M
Abstract
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.