{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:57:07Z","timestamp":1791496627613,"version":"4.3.4"},"reference-count":39,"publisher":"National Academy of Sciences","issue":"20","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2003,9,30]]},"abstract":"<jats:p>\n                    Approximately 3\u201310% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene,\n                    <jats:italic>DYX1C1<\/jats:italic>\n                    near the\n                    <jats:italic>DYX1<\/jats:italic>\n                    locus in chromosome 15q21, that is disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia. Two sequence changes in\n                    <jats:italic>DYX1C1<\/jats:italic>\n                    , one involving the translation initiation sequence and an Elk-1 transcription factor binding site (\u20133G \u2192 A) and a codon (1249G \u2192 T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia.\n                    <jats:italic>DYX1C1<\/jats:italic>\n                    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 Dyx2016 protein is 78% identical to the human protein, and the nonhuman primates differ at 0.5\u20131.4% of residues.\n                    <jats:italic>DYX1C1<\/jats:italic>\n                    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\n                    <jats:italic>DYX1C1<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1833911100","type":"journal-article","created":{"date-parts":[[2003,10,1]],"date-time":"2003-10-01T15:44:34Z","timestamp":1065023074000},"page":"11553-11558","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":298,"title":["A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain"],"prefix":"10.1073","volume":"100","author":[{"given":"Mikko","family":"Taipale","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Kaminen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaana","family":"Nopola-Hemmi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomas","family":"Haltia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitta","family":"Myllyluoma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heikki","family":"Lyytinen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurt","family":"Muller","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Kaaranen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perttu J.","family":"Lindsberg","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katariina","family":"Hannula-Jouppi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Kere","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, 00014 Helsinki, Finland; Department of Pediatrics, Jorvi Hospital, 02740 Espoo, Finland; Institute of Biomedicine\/Biochemistry, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland; Department of Psychology and Child Research Centre, University of Jyv\u00e4skyl\u00e4, 40014 Jyv\u00e4skyl\u00e4, Finland; Department of Neurology,..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2003,9,3]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1057179"},{"key":"e_1_3_2_2_2","first-page":"27","volume":"60","year":"1997","unstructured":"Grigorenko, E. 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