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Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

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Presentation on theme: "Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease"— Presentation transcript:

1 Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
Shirley Rainier, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, Rudy J. Richardson, James W. Albers, Nori Matsunami, Jeff Stevens, Hilary Coon, Mark Leppert, John K. Fink  The American Journal of Human Genetics  Volume 82, Issue 3, Pages (March 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 NTE-MND Kindreds
Analyzed portions of NTE-MND kindreds are shown together with haplotypes for linked and flanking microsatellite markers. Letters for marker NTE refer to the NTE sequence at cDNA position 3034 and cDNA position 2669 for the missense mutation and Ins for the insertion at position 2946. (A) Analyzed portion of index NTE-MND kindred. (B) Second NTE-MND kindred: affected subjects have compound heterozygous NTE mutations. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Multipoint Linkage Analysis of Chromosome 19 Markers
Multipoint analyses of markers on chromosome 19 show significant linkage regardless of platform (GeneHunter versus SimWalk2) and analysis assumptions (parametric LOD-score analysis versus nonparametric linkage [NPL]). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Autozygous Regions in NTE-MND Consanguineous Kindred Identified from 250 K SNP Chips Output figure from a GeneSpring GT program. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Disease-Specific Mutations in NTE-MND Kindreds
(A) Homozygous NTE mutation in consanguineous NTE-MND kindred. (B) Compound-heterozygous NTE mutations in nonconsanguineous NTE-MND kindred. (C) Disease-specific mutations in NTE-MND kindreds disrupt interspecies conserved residues in the NTE catalytic domain (shown in part). The c.2946_2947insCAGC leads to a frameshift and premature truncation indicated by the sequence in red. Symbols below sequence indicate the following: “∗” indicates sequence identity; “:” indicates that one of strong groups is conserved; “.” indicates that one of weak groups is conserved. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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