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Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia  Michael A. Simpson, Harold Cross,

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Presentation on theme: "Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia  Michael A. Simpson, Harold Cross,"— Presentation transcript:

1 Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia  Michael A. Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A. Patton, Andrew H. Crosby  The American Journal of Human Genetics  Volume 73, Issue 5, Pages (November 2003) DOI: /379522 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

2 Figure 1 MRI of patient 17, showing thin corpus callosum and cerebral atrophy (A) and periventricular white-matter hyperintensity (B) The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Pedigree of the large Amish family with Mast syndrome, with consanguinity dating to the 17th century, showing haplotypes for markers across the SPG21 interval The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Multipoint LOD scores for markers situated across the SPG21 locus, flanked by markers D15S108 and D15S1507, producing a peak score of 15.1 for marker repeat 3. The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

5 Figure 4 A schematic transcript map of the SPG21 locus, located within contig NT_ and spanning BAC clones AC069368, AC013691, and AC (NCBI). The relative positions of the markers used for haplotyping, transcripts (and direction of transcription) located within and around the critical region, and the 601insA mutation in ACP33 are shown. The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Sequence chromatograms of the region around the exon 7 601insA mutation (arrow) of ACP33 in a wild-type homozygote (A), a homozygous affected individual (B), and a carrier parent (C). The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

7 Figure 6 Alignment of maspardin with pseudomonas fluorescens chloroperoxidase (SwissProt: O31158 PRXC_PSEFL, PDB:1A8S). Line 1 shows the predicted secondary structure (“C3” loop, “E” strand, and “H” helix); lines 2 and 3 show the sequence of maspardin and chloroperoxydase, respectively; line 4 shows the known secondary structure of PRXC_PSEFL; and line 5, CORE, is a measure of the burial and number of contacts made by each residue, on a scale between 0 (not buried/few contacts) and 9 (very buried/many contacts). Amino acids of the catalytic triad of PRXC_PSEFL are shown in bold and are marked by an asterisk (*). The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

8 Figure 7 Model of the structure of maspardin on the basis of the results of 3D-PSSM, with 1A8S as a template, which indicates that two of the three residues (Gln227 and Asn255) do not conform to the α/β hydrolase catalytic triad and that Asp226 is in the opposite orientation. Alpha helices are shown in yellow, and beta strands are shown in blue. The American Journal of Human Genetics  , DOI: ( /379522) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

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