Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.
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.
Appel
S
S
Department of Molecular Genetics and Gene Mapping Center, Max Delbrück Center for Molecular Medicine, Berlin, Germany
Reichwald
K
K
Zimmermann
W
W
Reis
A
A
Rosenthal
A
A
Hennies
H C
HC
D000595:Amino Acid Sequence; D001665:Binding Sites; D002352:Carrier Proteins / Q000096:biosynthesis* / Q000235:genetics*; D020134:Catalytic Domain; D002455:Cell Division; D002898:Chromosomes, Human, Pair 8; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D017434:Protein Structure, Tertiary; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
D002352:Carrier Proteins; D018076:DNA, Complementary; C435691:MTMR9 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin