Table of Contents

ABSTRACT

KIAA0319-Like (KIAA0319L) gene has been reported to be associated with developmental dyslexia. It has been suggested to be a functional and positional candidate for developmental dyslexia, as it is a homologue of KIAA0319 and positioned near the developmental dyslexia susceptibility locus, DYX8. This article documents the expression pattern of this gene in various human tissues, including the adult and fetal brain, by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR). KIAA0319L mRNA was present in both adult and fetal brain, and was found to be most abundant in the cerebellum.

Kiaa0319L protein was shown to be mainly localized in the cytoplasm, the periphery of the nucleus and also within the nucleus. Experiments with overexpressed constructs containing the Kiaa0319L protein revealed that the full-length Kiaa0319L protein is an N-glycosylated protein which exists in at least 2 glyco-isoforms. This protein was able to bind to itself in a co-immunoprecipitation experiment. These properties of Kiaa0319L protein are also similar to its homologue, the Kiaa0319 protein, which is the N- and O- glycosylated plasma membrane isoform A studied by an Italian group.

We report here a novel study comparing the two Kiaa proteins, their protein properties and predicted domain structures. This is an important initial step to the functional studies of the two Kiaa proteins.

Keywords: Kiaa0319L, Kiaa0319, dyslexia, protein, brain.