Biology:DCDC2

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
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

  1. "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. 
  2. "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. 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. 
  4. "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. 
  5. "The DCDC2 deletion is not a risk factor for dyslexia.". Transl Psychiatry 7 (7): e1182. 2017. doi:10.1038/tp.2017.151. PMID 28742079. 
  6. "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. 
  7. 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. 
  8. "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