Biology:Dyslexia-associated protein
From HandWiki
 Generic protein structure example |
Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.[1][2]
Clinical significance
Variants of the KIAA0319 gene have been associated with developmental dyslexia.[3][4] Reading disability, or dyslexia, is a major social, educational and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 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 to 70%.[1]
Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).[5][6]
Function
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.[7]
References
- ↑ 1.0 1.1 "Entrez Gene: KIAA0319 KIAA0319". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9856.
- ↑ "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". DNA Research 4 (2): 141–50. April 1997. doi:10.1093/dnares/4.2.141. PMID 9205841.
- ↑ "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia". American Journal of Human Genetics 76 (4): 581–91. April 2005. doi:10.1086/429131. PMID 15717286.
- ↑ "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration". Human Molecular Genetics 15 (10): 1659–66. May 2006. doi:10.1093/hmg/ddl089. PMID 16600991.
- ↑ "Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment". Journal of Neurodevelopmental Disorders 1 (4): 264–82. December 2009. doi:10.1007/s11689-009-9031-x. PMID 19997522.
- ↑ "The human lexinome: genes of language and reading". Journal of Communication Disorders 41 (5): 409–20. 2008. doi:10.1016/j.jcomdis.2008.03.003. PMID 18466916.
- ↑ "The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway". American Journal of Physiology. Cell Physiology 297 (1): C160-8. July 2009. doi:10.1152/ajpcell.00630.2008. PMID 19419997.
Further reading
- "DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2". Genomics 13 (4): 1157–61. August 1992. doi:10.1016/0888-7543(92)90031-M. PMID 1354641.
- "Quantitative trait locus for reading disability on chromosome 6". Science 266 (5183): 276–9. October 1994. doi:10.1126/science.7939663. PMID 7939663. Bibcode: 1994Sci...266..276C.
- "Quantitative-trait locus for specific language and reading deficits on chromosome 6p". American Journal of Human Genetics 64 (1): 157–64. January 1999. doi:10.1086/302191. PMID 9915954.
- "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research 12 (11): 1773–84. November 2002. doi:10.1101/gr.406902. PMID 12421765.
- "A transcription map of the 6p22.3 reading disability locus identifying candidate genes". BMC Genomics 4 (1): 25. June 2003. doi:10.1186/1471-2164-4-25. PMID 12834540.
- "A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States". American Journal of Human Genetics 75 (6): 1046–58. December 2004. doi:10.1086/426404. PMID 15514892.
- "A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability". Biological Psychiatry 62 (7): 811–7. October 2007. doi:10.1016/j.biopsych.2007.03.007. PMID 17597587.
- "Alternative splicing in the dyslexia-associated gene KIAA0319". Mammalian Genome 18 (9): 627–34. September 2007. doi:10.1007/s00335-007-9051-3. PMID 17846832.
External links
 |
