{{Short description|Protein found in in humans}} {{Infobox_gene}} '''Dyslexia-associated protein KIAA0319''' is a protein which in humans is encoded by the ''KIAA0319'' gene.<ref name="entrez">{{cite web | title = Entrez Gene: KIAA0319 KIAA0319| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9856| access-date = }}</ref><ref name="pmid9205841">{{cite journal | vauthors = Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro | journal = DNA Research | volume = 4 | issue = 2 | pages = 141–50 | date = April 1997 | pmid = 9205841 | doi = 10.1093/dnares/4.2.141 | doi-access = free }}</ref>
== Clinical significance ==
Variants of the KIAA0319 gene have been associated with developmental dyslexia.<ref name="pmid15717286">{{cite journal | vauthors = Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J | title = Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia | journal = American Journal of Human Genetics | volume = 76 | issue = 4 | pages = 581–91 | date = April 2005 | pmid = 15717286 | pmc = 1199296 | doi = 10.1086/429131 }}</ref><ref>{{cite journal | vauthors = Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP | display-authors = 6 | title = The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration | journal = Human Molecular Genetics | volume = 15 | issue = 10 | pages = 1659–66 | date = May 2006 | pmid = 16600991 | doi = 10.1093/hmg/ddl089 | doi-access = free | hdl = 11858/00-001M-0000-0012-C979-F | hdl-access = free }}</ref> Reading disability, or dyslexia, is a major social, educational and mental health problem. In spite of average intelligence and adequate educational opportunities, 5–10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to this disorder, with heritable variation estimated at 50–70%.<ref name="entrez" />
Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).<ref name="pmid19997522">{{cite journal | vauthors = Rice ML, Smith SD, Gayán J | title = Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment | journal = Journal of Neurodevelopmental Disorders | volume = 1 | issue = 4 | pages = 264–82 | date = December 2009 | pmid = 19997522 | pmc = 2788915 | doi = 10.1007/s11689-009-9031-x }}</ref><ref name="pmid18466916">{{cite journal | vauthors = Gibson CJ, Gruen JR | title = The human lexinome: genes of language and reading | journal = Journal of Communication Disorders | volume = 41 | issue = 5 | pages = 409–20 | date = 2008 | pmid = 18466916 | pmc = 2488410 | doi = 10.1016/j.jcomdis.2008.03.003 }}</ref>
== Function == [[File:KIAA0319_Protein20154-300.jpg|thumb|left|Over-expression of C-terminally myc-tagged KIAA0319 protein in transiently transfected 293T cells, showing plasma membrane localization. Detection with monoclonal anti-myc 9E10.]]
The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway.<ref name="pmid19419997">{{cite journal | vauthors = Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP | title = The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway | journal = American Journal of Physiology. Cell Physiology | volume = 297 | issue = 1 | pages = C160-8 | date = July 2009 | pmid = 19419997 | pmc = 2711651 | doi = 10.1152/ajpcell.00630.2008 }}</ref> {{Clear}}
== References == {{reflist}}
== Further reading == {{refbegin|2}} * {{cite journal | vauthors = Ozçelik T, Porteus MH, Rubenstein JL, Francke U | title = DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2 | journal = Genomics | volume = 13 | issue = 4 | pages = 1157–61 | date = August 1992 | pmid = 1354641 | doi = 10.1016/0888-7543(92)90031-M }} * {{cite journal | vauthors = Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC | title = Quantitative trait locus for reading disability on chromosome 6 | journal = Science | volume = 266 | issue = 5183 | pages = 276–9 | date = October 1994 | pmid = 7939663 | doi = 10.1126/science.7939663 | bibcode = 1994Sci...266..276C }} * {{cite journal | vauthors = Gayán J, Smith SD, Cherny SS, Cardon LR, Fulker DW, Brower AM, Olson RK, Pennington BF, DeFries JC | title = Quantitative-trait locus for specific language and reading deficits on chromosome 6p | journal = American Journal of Human Genetics | volume = 64 | issue = 1 | pages = 157–64 | date = January 1999 | pmid = 9915954 | pmc = 1377713 | doi = 10.1086/302191 }} * {{cite journal | vauthors = Nakayama M, Kikuno R, Ohara O | title = Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs | journal = Genome Research | volume = 12 | issue = 11 | pages = 1773–84 | date = November 2002 | pmid = 12421765 | pmc = 187542 | doi = 10.1101/gr.406902 }} * {{cite journal | vauthors = Londin ER, Meng H, Gruen JR | title = A transcription map of the 6p22.3 reading disability locus identifying candidate genes | journal = BMC Genomics | volume = 4 | issue = 1 | pages = 25 | date = June 2003 | pmid = 12834540 | pmc = 166143 | doi = 10.1186/1471-2164-4-25 | doi-access = free }} * {{cite journal | vauthors = Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, MacPhie IL, Walter J, Pennington BF, Fisher SE, Olson RK, DeFries JC, Stein JF, Monaco AP | title = A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States | journal = American Journal of Human Genetics | volume = 75 | issue = 6 | pages = 1046–58 | date = December 2004 | pmid = 15514892 | pmc = 1182140 | doi = 10.1086/426404 }} * {{cite journal | vauthors = Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC | title = A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability | journal = Biological Psychiatry | volume = 62 | issue = 7 | pages = 811–7 | date = October 2007 | pmid = 17597587 | doi = 10.1016/j.biopsych.2007.03.007 | s2cid = 11334660 }} * {{cite journal | vauthors = Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP | title = Alternative splicing in the dyslexia-associated gene KIAA0319 | journal = Mammalian Genome | volume = 18 | issue = 9 | pages = 627–34 | date = September 2007 | pmid = 17846832 | doi = 10.1007/s00335-007-9051-3 | s2cid = 42549021 }} {{refend}}
== External links == *[http://www.nextbio.com/b/home/home.nb?q=KIAA0319 KIAA0319 Associations, Experiments, Publications and Clinical Trials] {{KIAA human genes}}
Category:Dyslexia research
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