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Protein-coding gene in humans
Dyslexia susceptibility 1 candidate gene 1 protein is a protein that in humans is encoded by the DYX1C1 gene .[5] [6] This protein contains 420 amino acids with 3 tetratricopeptide repeat (TPR) domains, thought to mediate protein–protein interactions.
Clinical significance [ edit ]
A mutation in the DYX1C1 gene has been associated with deficits in reading ability (dyslexia ).[5] [7]
^ Jump up to: a b c GRCh38: Ensembl release 89: ENSG00000256061 – Ensembl , May 2017
^ Jump up to: a b c GRCm38: Ensembl release 89: ENSMUSG00000092192 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Jump up to: a b Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J (Oct 2003). "A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain" . Proc Natl Acad Sci U S A . 100 (20): 11553–8. doi :10.1073/pnas.1833911100 . PMC 208796 . PMID 12954984 .
^ "Entrez Gene: DYX1C1 dyslexia susceptibility 1 candidate 1" .
^ Bates TC, Lind PA, Luciano M, Montgomery GW, Martin NG, Wright MJ (November 2009). "Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation" . Mol. Psychiatry . 15 (12): 1190–6. doi :10.1038/mp.2009.120 . PMID 19901951 .
Bates TC, Lind PA, Luciano M, Montgomery GW, Martin NG, Wright MJ (November 2009). "Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation" . Mol. Psychiatry . 15 (12): 1190–6. doi :10.1038/mp.2009.120 . PMID 19901951 .
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Brkanac Z, Chapman NH, Matsushita MM, et al. (2007). "Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia". Am. J. Med. Genet. B Neuropsychiatr. Genet . 144 (4): 556–60. doi :10.1002/ajmg.b.30471 . PMID 17450541 . S2CID 43864328 .
Cope NA, Hill G, van den Bree M, et al. (2005). "No support for association between dyslexia susceptibility 1 candidate 1 and developmental dyslexia". Mol. Psychiatry . 10 (3): 237–8. doi :10.1038/sj.mp.4001596 . PMID 15477871 . S2CID 1777791 .
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Marino C, Citterio A, Giorda R, et al. (2007). "Association of short-term memory with a variant within DYX1C1 in developmental dyslexia" . Genes, Brain and Behavior . 6 (7): 640–6. doi :10.1111/j.1601-183X.2006.00291.x . PMID 17309662 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 .
Scerri TS, Fisher SE, Francks C, et al. (2005). "Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK" . J. Med. Genet . 41 (11): 853–7. doi :10.1136/jmg.2004.018341 . PMC 1735619 . PMID 15520411 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Wigg KG, Couto JM, Feng Y, et al. (2005). "Support for EKN1 as the susceptibility locus for dyslexia on 15q21" . Mol. Psychiatry . 9 (12): 1111–21. doi :10.1038/sj.mp.4001543 . PMID 15249932 .
Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, et al. (2005). "Family-based association study of DYX1C1 variants in autism" . Eur. J. Hum. Genet . 13 (1): 127–30. doi :10.1038/sj.ejhg.5201272 . PMID 15470369 .