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Results: 3

Figure 1

Figure 1. Somatosensory-evoked potentials in the FCM family. From: Familial Cortical Myoclonus with a Mutation in NOL3.

Somatosensory-evoked potential (SSEP) waveforms were measured following electrical stimulation of the median nerve at the wrist in a representative affected (A, patient II-1, 69.4μV) and unaffected (B, 1.1μV) family member.

Jonathan F. Russell, et al. Ann Neurol. 2012 August;72(2):175-183.
Figure 2

Figure 2. Pedigree with chromosome 16q21-22.1 haplotypes, and NOL3 mutation. From: Familial Cortical Myoclonus with a Mutation in NOL3.

A) Each microsatellite allele for a given marker is denoted by a different integer value. The red box encloses the mutant haplotype. The yellow box encloses the critical region of the mutant haplotype. Blue arrows denote recombination events. Alleles are highlighted in green if they differ from the remainder of that haplotype, because of either a recombination or non-Mendelian inheritance (II-1 and progeny, III-13, IV-4; likely due to spontaneous repeat contraction/expansion). II-1 and II-7 are now deceased but were examined prior to death. IV-3 was an asymptomatic adult with normal SSEP. The dot (III-13) denotes unknown phenotype; III-13 refused SSEP. IV-5 was an asymptomatic 26-year-old at exam (refused SSEP), and is predicted to be a carrier although incomplete penetrance is possible. Forty-two relatives were omitted to preserve anonymity. Asterisks denote subjects who were genotyped for genome-wide SNP identity-by-descent mapping.
B) Genome-wide SNP mapping identified 3 candidate linkage regions (green). IBD block size (cM) is plotted against genomic position. Blocks that were not identical-by-descent have been omitted.
C) Sanger-sequencing chromatographs confirmed co-segregation of the NM_001185058.1:c.61G>C variant, predicted to cause an E21Q mutation in NOL3.

Jonathan F. Russell, et al. Ann Neurol. 2012 August;72(2):175-183.
Figure 3

Figure 3. E21Q mutation in NOL3 alters post-translational modification of NOL3 protein. From: Familial Cortical Myoclonus with a Mutation in NOL3.

A) NOL3 protein contains a C-terminal proline(P)/glutamate(E) domain, and an N-terminal Caspase Activation Recruitment Domain (CARD). The CARD mediates protein-protein binding via electrostatic interactions. The E21Q mutation converts an acidic residue (E) to a neutral residue (Q). Known phospho-residues are denoted by red diamond-head arrows; T149 is a well-characterized phospho-residue (blue diamond-head arrow).
B) NOL3 is conserved in all known homologues, and the CARD residues near E21 are 100% conserved (yellow). Id. denotes aa identity; Sim., aa similarity; H. s., Homo sapiens; C. l. f., Canis lupus familiaris (canine); B.t., Bos taurus (cattle); M. m., Mus musculus (mouse); R. n., Rattus norvegicus (rat).
C) In silico homology modelling of WT and E21Q NOL3 protein structure predicts that E21Q alters the electrostatic surface potential of NOL3. Asterisk denotes aa 21; red is negative charge, blue is positive charge.
D) NOL3E21Q-FLAG exhibits altered post-translational modification in HEK293 cells. Shown is representative experiment from four independently-generated stable cell lines probed with anti-FLAG antibody. GAPDH is loading control.
E) Quantification of upper:lower ratio of FLAG bands in NOL3WT-FLAG vs. NOL3E21Q-FLAG stable cell lines. Shown is mean of three biological replicates; error bars denote standard deviation. The paired two-tailed t-test P-value is 0.0078.

Jonathan F. Russell, et al. Ann Neurol. 2012 August;72(2):175-183.

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