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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.

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Presentation on theme: "A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl- tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth."— Presentation transcript:

1 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 (January 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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

3 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  , 77-82DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4 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  , 77-82DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Alignment of AlaRS Helical Domains from E. coli to H. sapiens
GenBank access for proteins were as follows: NP_ (Homo sapiens), ACT28094 (Escherichia coli), NP_ (Rattus norvegicus), NP_ (Gallus gallus), NP_ (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  , 77-82DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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