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The human “ferlin” genes

The human “ferlin” genes. DYSF OTOF FERLIN-10 2p13 2p23 10q23.3 7 kb 6 kb 7.5 kb skeletal inner ear, heart, lung, muscle brain placenta LGMD2B, MM DFNB9 ?. Structure of the “ferlins”. FER-1 DYSF OTOF FERLIN-10 C2 domains 6 6 3 6

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The human “ferlin” genes

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  1. The human “ferlin” genes DYSF OTOF FERLIN-10 2p13 2p23 10q23.3 7 kb 6 kb 7.5 kb skeletal inner ear, heart, lung, muscle brain placenta LGMD2B, MM DFNB9 ?

  2. Structure of the “ferlins” FER-1 DYSF OTOF FERLIN-10 C2 domains 6 6 3 6 C-terminal anchor + + + + Homology with FER-1 28% 30% 40%

  3. Disease genes mapped to 10q23 Several tumour suppressor genes PTEN/MMAC1, Mxl1, RET Intestinal polyposis syndrome Congenital erythropoietic porphyria Dilated cardiomyopathy, CMD1C Apert syndrome

  4. Current and future research on the “ferlins” Molecular genetic characterisation Expression analysis Role in disease Subcellular localisation Interacting proteins Characterisation of the C2 domains Analysis of the yeast “ferlins”

  5. The SJL/J mouse is the natural model for dysferlinopathy experimental model for MS non-sensitised mice have a progressive muscular dystrophy inherited as autosomal recessive mapped to mouse chromosome 6 affected mouse muscle is deficient for dysferlin

  6. Ferlin-10 is highly similar to dysferlin • amino acid sequence is >60% homologous to dysferlin • transcript sizes are similar • expression in human and mouse dysferlinopathy to be determined • role as a potential modifier of dysferlinopathy needs to be explored

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