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  Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment

Powers, N. R., Eicher, J. D., Butter, F., Kong, Y., Miller, L. L., Ring, S. M., et al. (2013). Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment. AMERICAN JOURNAL OF HUMAN GENETICS, 93(1), 19-28. doi:10.1016/j.ajhg.2013.05.008.

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 Urheber:
Powers, Natalie R.1, Autor
Eicher, John D.1, Autor
Butter, Falk2, Autor           
Kong, Yong1, Autor           
Miller, Laura L.1, Autor
Ring, Susan M.1, Autor
Mann, Matthias2, Autor           
Gruen, Jeffrey R.1, Autor
Affiliations:
1external, ou_persistent22              
2Mann, Matthias / Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565159              

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Schlagwörter: DYSLEXIA SUSCEPTIBILITY GENE; DEVELOPMENTAL DYSLEXIA; NEURONAL MIGRATION; DNA-BINDING; KIAA0319; ASSOCIATION; EXPRESSION; TEL; TRANSCRIPTION; POPULATION
 Zusammenfassung: Reading disability (RD) and language impairment (LI) are common learning disabilities that make acquisition and utilization of reading and verbal language skills, respectively, difficult for affected individuals. Both disorders have a substantial genetic component with complex inheritance. Despite decades of study, reading and language, like many other complex traits, consistently evade identification of causative and functional variants. We previously identified a putative functional risk variant, named BV677278 for its GenBank accession number, for RD in DCDC2. This variant consists of an intronic microdeletion and a highly polymorphic short tandem repeat (STR) within its breakpoints. We have also shown this STR to bind to an unknown nuclear protein with high specificity. Here, we replicate BV677278's association with RD, expand its association to LI, identify the BV677278-binding protein as the transcription factor ETV6, and provide compelling genetic evidence that BV677278 is a regulatory element that influences reading and language skills. We also provide evidence that BV677278 interacts nonadditively with KIAA0319, an RD-associated gene, to adversely affect several reading and cognitive phenotypes. On the basis of these data, we propose a new name for BV677278: "READ1" or "regulatory element associated with dyslexia 1."

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Sprache(n): eng - English
 Datum: 2013
 Publikationsstatus: Erschienen
 Seiten: 10
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: ISI: 000321804500002
DOI: 10.1016/j.ajhg.2013.05.008
 Art des Abschluß: -

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Titel: AMERICAN JOURNAL OF HUMAN GENETICS
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA : CELL PRESS
Seiten: - Band / Heft: 93 (1) Artikelnummer: - Start- / Endseite: 19 - 28 Identifikator: ISSN: 0002-9297