title: Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
abstract: Autosomal recessive hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. The clinical picture includes progressive distal weakness and atrophy, foot deformities, and distal sensory loss. For autosomal recessive CMT type 4B2 one locus was mapped to chromosome 11p15. Recently, mutations in SET binding factor 2 (SBF2), were identified as cause of CMT4B2. SBF2 is a member of the pseudo-phosphatase branch of myotubularins and all disease-associated mutations known to date lead to shortened or truncated proteins, also implicating loss-of-function. Here, we describe the molecular cloning and the expression pattern of Sbf2. The mRNA spans around 8 kb, and the protein shares high amino acid identity compared to the human protein suggesting a conserved function. Sbf2 is encoded by 40 exons on murine chromosome 7. In situ hybridization, Northern blots and RT-analysis revealed a very broad pattern of Sbf2 expression. Overexpressed epitope tagged Sbf2 showed cytoplasmic distribution. Taken together, this study provides information about the mRNA expression and subcellular localization of Sbf2 and as such helps in further understanding its function in development and disease.
authors.affiliation: Institute of Pathology, University of Bonn, Bonn, Germany. Jutta.Kirfel@ukb.uni-bonn.de
authors.forename: Jutta
authors.initials: J
authors.lastname: Kirfel
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
authors.forename: Markus
authors.initials: M
authors.lastname: Moser
authors.forename: Anke
authors.initials: A
authors.lastname: Röper
authors.forename: Claudia
authors.initials: C
authors.lastname: Stendel
authors.forename: Carsten
authors.initials: C
authors.lastname: Bergmann
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Reinhard
authors.initials: R
authors.lastname: Buettner
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002522:Chlorocebus aethiops; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000302:isolation & purification; D004622:Embryo, Mammalian / Q000378:metabolism; D047108:Embryonic Development / Q000502:physiology; D018507:Gene Expression Regulation, Developmental; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000378:metabolism*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C475072:SBF2 protein, human