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Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH  Charlene J. Williams,

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Presentation on theme: "Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH  Charlene J. Williams,"— Presentation transcript:

1 Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH  Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham G. Russell, B. Paul Wordsworth, Andrew J. Carr, Matthew A. Brown  The American Journal of Human Genetics  Volume 71, Issue 4, Pages (October 2002) DOI: /343053 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

2 Figure 1 ANKH mutation changes a highly conserved hydrophobic protein. a, DNA sequence chromatograms (antisense sequence) showing heterozygous base substitution (red arrow) in affected (left chromatogram) and unaffected (right chromatogram) individuals. Protein translation of the first six amino acids of ANKH coding sequence is shown above sequence chromatograms; black arrows indicate direction of translation. b, Pedigree of CPPDD family described elsewhere (Andrew et al. 1999). c, Confirmation of sequence change in genomic DNA by restriction enzyme digestion (BstN1). Wild-type genotypes result in fragments of 24, 45, and 142 bp (the 24-bp fragment is too small to resolve). Carriers of the mutation display fragments of 24, 45, 69, and 142 bp. The American Journal of Human Genetics  , DOI: ( /343053) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Predicted transmembrane domains from different structural prediction programs. Transmembrane domains are listed in red. The programs used were DAS, HMMTOP, MPEx, PRED-TMR, PSORTII, SOSUI, SPLIT 4.0, TM-Finder, TMAP, TMpred, and TopPred2. The American Journal of Human Genetics  , DOI: ( /343053) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

4 Figure 2 Predicted transmembrane domains from different structural prediction programs. Transmembrane domains are listed in red. The programs used were DAS, HMMTOP, MPEx, PRED-TMR, PSORTII, SOSUI, SPLIT 4.0, TM-Finder, TMAP, TMpred, and TopPred2. The American Journal of Human Genetics  , DOI: ( /343053) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

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