期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 102, 期 47, 页码 17053-17058出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0508591102
关键词
dyslexia; DYX2; disequilibrium; haplotype; doublecortin
资金
- NIAAA NIH HHS [R01 AA 11330, R01 AA011330] Funding Source: Medline
- NICHD NIH HHS [5P50 HD 027802, HD 20806, P01 HD 21888, P50 HD025802, P50 HD027802, P50 HD 25802, P01 HD020806] Funding Source: Medline
- NIDA NIH HHS [R01 DA 12849, R01 DA 12690, R01 DA012690, R01 DA012849] Funding Source: Medline
- NIMH NIH HHS [R01 MH056524, MH 56524, R29 MH056524] Funding Source: Medline
- NINDS NIH HHS [R01 NS043530, R01 NS 43530] Funding Source: Medline
DYX2 on 6p22 is the most replicated reading disability (RD) locus. By saturating a previously identified peak of association with single nucleotide polymorphism markers, we identified a large polymorphic deletion that encodes tandem repeats of putative brain-related transcription factor binding sites in intron 2 of DCDC2. Alleles of this compound repeat are in significant disequilibrium with multiple reading traits. RT-PCR data show that DCDC2 localizes to the regions of the brain where fluent reading occurs, and RNA interference studies show that down-regulation alters neuronal migration. The statistical and functional studies are complementary and are consistent with the latest clinical imaging data for RD. Thus, we propose that DCDC2 is a candidate gene for RD.
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