Biology:DCDC2
Generic protein structure example |
Doublecortin domain-containing protein 2 is a protein that in humans is encoded by the DCDC2 gene.[1][2][3]
Function
This gene encodes a protein with two doublecortin peptide domains. This domain has been demonstrated to bind tubulin and enhance microtubule polymerization.[3]
Clinical significance
Mutations in this gene have been associated with reading disability (RD), also referred to as developmental dyslexia.[3][4] But this is controverse since a recent study proposed that there is a "low likelihood of a direct deletion effect on reading skills." [5] Changes in the DCDC2 gene are frequently found among dyslexics. Altered alleles often occur among children with reading and writing difficulties. The gene appears to have a strong linkage with the processing of speech information when writing.[6][7][8]
References
- ↑ "A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription". J Exp Med 190 (12): 1793–800. Jan 2000. doi:10.1084/jem.190.12.1793. PMID 10601354.
- ↑ "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res 6 (5): 329–36. Jan 2000. doi:10.1093/dnares/6.5.329. PMID 10574461.
- ↑ 3.0 3.1 3.2 "Entrez Gene: DCDC2 doublecortin domain containing 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51473.
- ↑ "Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample". Eur. J. Hum. Genet. 18 (6): 668–73. June 2010. doi:10.1038/ejhg.2009.237. PMID 20068590.
- ↑ "The DCDC2 deletion is not a risk factor for dyslexia.". Transl Psychiatry 7 (7): e1182. 2017. doi:10.1038/tp.2017.151. PMID 28742079.
- ↑ "DCDC2 is associated with reading disability and modulates neuronal development in the brain". Proc. Natl. Acad. Sci. U.S.A. 102 (47): 17053–8. November 2005. doi:10.1073/pnas.0508591102. PMID 16278297.
- ↑ Schumacher, J. et al. (Jan 2006). "Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.". The American Journal of Human Genetics 78 (1): 52–62. doi:10.1086/498992. PMID 16385449. PMC 1380223. Archived from the original on 2013-05-15. https://web.archive.org/web/20130515073329/http://download.cell.com/AJHG/pdf/PIIS0002929707608052.pdf.
- ↑ "DCDC2 genetic variants and susceptibility to developmental dyslexia". Psychiatr. Genet. 22 (1): 25–30. February 2012. doi:10.1097/YPG.0b013e32834acdb2. PMID 21881542.
Further reading
- "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. 2003. doi:10.1093/dnares/9.3.99. PMID 12168954.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. 2003. doi:10.1038/nature02055. PMID 14574404.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "DCDC2 is associated with reading disability and modulates neuronal development in the brain.". Proc. Natl. Acad. Sci. U.S.A. 102 (47): 17053–8. 2006. doi:10.1073/pnas.0508591102. PMID 16278297.
- "Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.". Am. J. Hum. Genet. 78 (1): 52–62. 2006. doi:10.1086/498992. PMID 16385449.
- "Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (4): 556–60. 2007. doi:10.1002/ajmg.b.30471. PMID 17450541.