A transcription map of the 6p22.3 reading disability locus identifying candidate genes

• Published in: BMC genomics Vol. 4; no. 1; p. 25
• Main Authors: Londin, Eric R, Meng, Haiying, Gruen, Jeffrey R
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 30-06-2003; BioMed Central; BMC
• Subjects: 6p22.3; Chromosome Mapping; Chromosomes, Human, Pair 6; Cloning, Molecular - methods; dyslexia; Dyslexia - genetics; ESTs; Expressed Sequence Tags - metabolism; Genetic Predisposition to Disease; Humans; In silico; Linkage Disequilibrium; Molecular Sequence Data; reading disability; Reverse Transcriptase Polymerase Chain Reaction; Transcription, Genetic
• ISSN: 1471-2164; 1471-2164
• DOI: 10.1186/1471-2164-4-25

Reading disability (RD) is a common syndrome with a large genetic component. Chromosome 6 has been identified in several linkage studies as playing a significant role. A more recent study identified a peak of transmission disequilibrium to marker JA04 (G72384) on chromosome 6p22.3, suggesting that a gene is located near this marker.
In silico cloning was used to identify possible candidate genes located near the JA04 marker. The 2 million base pairs of sequence surrounding JA04 was downloaded and searched against the dbEST database to identify ESTs. In total, 623 ESTs from 80 different tissues were identified and assembled into 153 putative coding regions from 19 genes and 2 pseudogenes encoded near JA04. The identified genes were tested for their tissue specific expression by RT-PCR.
In total, five possible candidate genes for RD and other diseases mapping to this region were identified.