Although the paper was published several years ago, it is worth noting. It may not be news, but it forms part of the fabric one has to consider in thinking about the nature of dyslexia. Read this in the context of other stories (e.g., this one) about genetic bases for dyslexia.
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain
Mikko Taipale, Nina Kaminen, Jaana Nopola-Hemmi, Tuomas Haltia, Birgitta Myllyluoma, Heikki Lyytinen, Kurt Muller, Minna Kaaranen, Perttu J. Lindsberg, Katariina Hannula-Jouppi, and Juha Kere
Communicated by Albert de la Chapelle, Ohio State University, Columbus, OH, June 24, 2003 (received for review December 23, 2002)
Approximately 3–10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the DYX1 locus in chromosome 15q21, that is disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia. Two sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (–3G A) and a codon (1249G T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia. DYX1C1 encodes a 420-aa protein with three tetratricopeptide repeat (TPR) domains, thought to be protein interaction modules, but otherwise with no homology to known proteins. The mouse Dyx1c1 protein is 78% identical to the human protein, and the nonhuman primates differ at 0.5–1.4% of residues. DYX1C1 is expressed in several tissues, including the brain, and the protein resides in the nucleus. In human brain, DYX1C1 protein localizes to a fraction of cortical neurons and white matter glial cells. We conclude that DYX1C1 should be regarded as a candidate gene for developmental dyslexia. Detailed study of its function may open a path to understanding a complex process of development and maturation of the human brain.
Link to the PNAS materials.
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