Mammalian Genome

, Volume 18, Issue 9, pp 627–634

Alternative splicing in the dyslexia-associated gene KIAA0319

Authors

  • Antonio Velayos-Baeza
    • Wellcome Trust Centre for Human GeneticsUniversity of Oxford
  • Claudio Toma
    • Wellcome Trust Centre for Human GeneticsUniversity of Oxford
  • Stephanie da Roza
    • Wellcome Trust Centre for Human GeneticsUniversity of Oxford
  • Silvia Paracchini
    • Wellcome Trust Centre for Human GeneticsUniversity of Oxford
    • Wellcome Trust Centre for Human GeneticsUniversity of Oxford
Article

DOI: 10.1007/s00335-007-9051-3

Cite this article as:
Velayos-Baeza, A., Toma, C., da Roza, S. et al. Mamm Genome (2007) 18: 627. doi:10.1007/s00335-007-9051-3

Abstract

The KIAA0319 gene in chromosome 6p22 has been strongly associated with developmental dyslexia. In this article we show a wide expression pattern of this gene in human adult brain by Northern blot analysis. We also performed RT-PCR analysis to detect alternative splicing variants in human brain. Most of the detected variants involve alternative splicing of the exons at the 5′ and the 3′ ends. Two main forms differing in the length of the 5′ UTR are detected at approximately the same rate. Two variants (B and C) lacking exon 19, which encodes the transmembrane domain, are the main alternative forms detected among those predicted to encode protein. These two variants could be secreted and might be involved in signaling functions. A similar RT-PCR analysis performed in mouse and rat adult brains showed that only some of the alternative splicing variants are equivalent to those found in the human gene.

Supplementary material

335_2007_9051_MOESM1_ESM.doc (38 kb)
Supplementary material ESM1 (DOC 38.5 kb)

Copyright information

© Springer Science+Business Media, LLC 2007