CMT Type 4B2 mutation: Cloning, expression and characterization of the murine or

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Gene Expr Patterns. 2006 May 31

Cloning, expression and characterization of the murine orthologue of

SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

Kirfel J, Senderek J, Moser M, Roper A, Stendel C, Bergmann C, Zerres

K, Buettner R.

Institute of Pathology, University of Bonn, Bonn, Germany.

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 8kb, 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.