Alternative Splicing in the Dyslexia-associated Gene KIAA0319

Overview

Journal Mamm Genome

Specialty Genetics

Date 2007 Sep 12

PMID 17846832

Citations 19

Authors

Antonio Velayos-Baeza

Claudio Toma

Stephanie da Roza

Silvia Paracchini

Anthony P Monaco

Affiliations

Soon will be listed here.

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.

Citing Articles

KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.

Diaz R, Kronenberg N, Martinelli A, Liehm P, Riches A, Gather M Sci Rep. 2022; 12(1):722.

PMID: 35031635 PMC: 8760330. DOI: 10.1038/s41598-021-04539-3.

The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration.

Gostic M, Martinelli A, Tucker C, Yang Z, Gasparoli F, Ewart J J Comp Neurol. 2019; 527(16):2634-2643.

PMID: 30950042 PMC: 6767054. DOI: 10.1002/cne.24696.

Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.

Guidi L, Mattley J, Martinez-Garay I, Monaco A, Linden J, Velayos-Baeza A Cereb Cortex. 2017; 27(12):5831-5845.

PMID: 29045729 PMC: 5939205. DOI: 10.1093/cercor/bhx269.

The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling.

Franquinho F, Nogueira-Rodrigues J, Duarte J, Esteves S, Carter-Su C, Monaco A Cereb Cortex. 2017; 27(3):1732-1747.

PMID: 28334068 PMC: 5905272. DOI: 10.1093/cercor/bhx023.

Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice.

Martinez-Garay I, Guidi L, Holloway Z, Bailey M, Lyngholm D, Schneider T Brain Struct Funct. 2016; 222(3):1367-1384.

PMID: 27510895 PMC: 5368214. DOI: 10.1007/s00429-016-1282-1.

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