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

被引：8

作者：

Appel, S

Reichwald, K

Zimmermann, WG

Reis, A

Rosenthal, A

Hennies, HC ^{[1
]}

机构：

[1] Max Delbruck Ctr Mol Med, Dept Mol Genet, Berlin, Germany

[2] Max Delbruck Ctr Mol Med, Gene Mapping Ctr, Berlin, Germany

[3] Inst Mol Biotechnol, Genome Sequencing Ctr, Jena, Germany

[4] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany

[5] Univ Jena, Dept Biol, D-6900 Jena, Germany

来源：

GENOMICS | 2001年 / 75卷 / 1-3期

关键词：

D O I：

10.1006/geno.2001.6591

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页码：6 / 8

页数：3

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