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Gene Review:

KIAA0319 - KIAA0319

Homo sapiens

Synonyms: DYLX2, DYX2, Dyslexia-associated protein KIAA0319, NMIG

Paracchini, S. et al., Cope, N. et al., Marcucio, R.S. et al., Harold, D. et al., Francks, C. et al., et al.

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Psychiatry related information on KIAA0319

Our data strongly implicate KIAA0319 as a susceptibility gene for dyslexia [1].

High impact information on KIAA0319

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia [1].
Logistic regression analysis showed that two SNPs (rs4504469 and rs6935076) in the KIAA0319 gene best explained DD status [1].
2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319 [2].
Here we show that in the presence of the risk haplotype, the expression of the KIAA0319 gene is reduced but the expression of the other two genes remains unaffected [3].
Using in situ hybridization, we detect a very distinct expression pattern of the KIAA0319 gene in the developing cerebral neocortex of mouse and human fetuses [3].

Biological context of KIAA0319

We have thus refined the region of association with developmental dyslexia to putative regulatory sequences around the first exon of the KIAA0319 gene, supporting the presence of functional mutations that could affect gene expression [4].
Linkage disequilibrium structure of KIAA0319 and DCDC2, two candidate susceptibility genes for developmental dyslexia [5].

Anatomical context of KIAA0319

Three of these, DYX1C1, DCDC2, and KIAA0319, have been shown by in utero RNAi to play a role in neuronal migration in developing neocortex [6].
One of the first changes we noted was that the dorsoventral polarity of the forebrain was disturbed, which manifested as a loss of Shh in the ventral telencephalon, a reduction in expression of the ventral markers Nkx2.1 and Dlx2, and a concomitant expansion of the dorsal marker Pax6 [7].

References

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Cope, N., Harold, D., Hill, G., Moskvina, V., Stevenson, J., Holmans, P., Owen, M.J., O'Donovan, M.C., Williams, J. Am. J. Hum. Genet. (2005) [Pubmed]
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Francks, C., Paracchini, S., Smith, S.D., Richardson, A.J., Scerri, T.S., Cardon, L.R., Marlow, A.J., MacPhie, I.L., Walter, J., Pennington, B.F., Fisher, S.E., Olson, R.K., DeFries, J.C., Stein, J.F., Monaco, A.P. Am. J. Hum. Genet. (2004) [Pubmed]
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Paracchini, S., Thomas, A., Castro, S., Lai, C., Paramasivam, M., Wang, Y., Keating, B.J., Taylor, J.M., Hacking, D.F., Scerri, T., Francks, C., Richardson, A.J., Wade-Martins, R., Stein, J.F., Knight, J.C., Copp, A.J., Loturco, J., Monaco, A.P. Hum. Mol. Genet. (2006) [Pubmed]
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Harold, D., Paracchini, S., Scerri, T., Dennis, M., Cope, N., Hill, G., Moskvina, V., Walter, J., Richardson, A.J., Owen, M.J., Stein, J.F., Green, E.D., O'donovan, M.C., Williams, J., Monaco, A.P. Mol. Psychiatry (2006) [Pubmed]
Linkage disequilibrium structure of KIAA0319 and DCDC2, two candidate susceptibility genes for developmental dyslexia. Harold, D., Paracchini, S., Scerri, T., Dennis, M., Cope, N., Hill, G., Moskvina, V., Walter, J., Richardson, A.J., Owen, M.J., Stein, J.F., Green, E.D., O'donovan, M.C., Williams, J., Monaco, A.P. Mol. Psychiatry (2006) [Pubmed]
Developmental disruptions and behavioral impairments in rats following in utero RNAi of Dyx1c1. Threlkeld, S.W., McClure, M.M., Bai, J., Wang, Y., Loturco, J.J., Rosen, G.D., Fitch, R.H. Brain Res. Bull. (2007) [Pubmed]
Molecular interactions coordinating the development of the forebrain and face. Marcucio, R.S., Cordero, D.R., Hu, D., Helms, J.A. Dev. Biol. (2005) [Pubmed]

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AgaP_AGAP008639	Anopheles gambiae str. PEST
KIAA0319	Bos taurus
KIAA0319	Canis lupus familiaris
LOC794624	Danio rerio
CG7565	Drosophila melanogaster
KIAA0319	Gallus gallus
D130043K22Rik	Mus musculus
KIAA0319	Pan troglodytes
RGD1307443	Rattus norvegicus
kiaa0319	Xenopus (Silurana) tropicalis

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