A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl- tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth.

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A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl- tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson The American Journal of Human Genetics Volume 86, Issue 1, Pages 77-82 (January 2010) DOI: 10.1016/j.ajhg.2009.12.005 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Patient IV.5 of Family 1 The American Journal of Human Genetics 2010 86, 77-82DOI: (10.1016/j.ajhg.2009.12.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigrees and Haplotypes Filled symbols indicate affected individuals. Empty symbols indicate unaffected individuals. Identical alleles on the disease-causing haplotypes are boxed for each family. Closest recombinants in family 1 are shown in red (centromeric side) or blue (telomeric side). The American Journal of Human Genetics 2010 86, 77-82DOI: (10.1016/j.ajhg.2009.12.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 3 Modular Organization of H. sapiens and E. coli AlaRS Abbreviations are as follows: AD, aminoacylation domain; HD, helical domain; ED, editing domain. In E. coli, the C-Ala domain brings together AD and ED in docking models, and an N-terminal fragment of 461 amino acids (AD+HD) is sufficient for complete and specific aminoacylation of tRNAAla. The American Journal of Human Genetics 2010 86, 77-82DOI: (10.1016/j.ajhg.2009.12.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 4 Alignment of AlaRS Helical Domains from E. coli to H. sapiens GenBank access for proteins were as follows: NP_001596 (Homo sapiens), ACT28094 (Escherichia coli), NP_001093987 (Rattus norvegicus), NP_001005836 (Gallus gallus), NP_001037775 (Danio rerio), and AAF05593 (Drosophila melanogaster). Fully conserved amino acids are indicated with an asterisk (∗) below the alignment. Arrowheads (▾) on top of the alignment indicate amino acids that have been studied by mutagenesis.15E. coli D285 and R314 (H. sapiens D300, and R329) are indicated in yellow. E. coli R314 interacts with E362, F366, and G402, shown in blue (H. sapiens E378, F382, and G419). The American Journal of Human Genetics 2010 86, 77-82DOI: (10.1016/j.ajhg.2009.12.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions