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Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23
S Appel1, K Reichwald, W Zimmermann
1Department of Molecular Genetics and Gene Mapping Center, Max Delbrück Center for Molecular Medicine, Berlin, Germany
Abstract:
Myotubularin and myotubularin-related proteins are dual-specificity phosphatases. Several myotubularin-related proteins have been identified in humans and mice. The members of the myotubularin protein family are highly conserved, 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 spans approximately 43 kb. The corresponding cDNA is 7081 bp. The open reading frame predicts a protein of 549 amino acids and a calculated molecular mass of 63 kDa. Like myotubularin-related protein-5, MTMR8 has no dual-specificity 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 cell proliferation.
Insights
Researchers identified a novel myotubularin-related protein gene, MTMR8, on chromosome 8. This gene lacks a phosphatase domain but contains a motif potentially involved in cell proliferation control.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Myotubularin and related proteins are conserved dual-specificity phosphatases.
- Mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy.
- Several myotubularin-related proteins are known in humans and mice.
Purpose of the Study:
- To isolate and localize a novel myotubularin-related protein gene.
- To characterize the structure and potential function of this new gene.
Main Methods:
- Exon trapping experiments
- RT-PCR (Reverse Transcription Polymerase Chain Reaction)
- Genomic sequencing
- cDNA analysis
Main Results:
- A novel gene, MTMR8, was isolated and localized to chromosome 8p22--p23.
- MTMR8 consists of 10 exons, with a cDNA of 7081 bp.
- The predicted protein (63 kDa) lacks a dual-specificity phosphatase domain but has a SET interaction domain-like motif.
Conclusions:
- MTMR8 is a novel member of the myotubularin-related protein family.
- The identified SET interaction domain-like motif suggests a potential role in cell proliferation control.
- Further research is needed to elucidate the precise function of MTMR8.