DYX1C1

DNAAF4
Identifiers
AliasesDNAAF4, CILD25, DYX1, DYXC1, EKN1, RD, DYX1C1, dyslexia susceptibility 1 candidate 1, dynein axonemal assembly factor 4
External IDsMGI: 1914935 HomoloGene: 12173 GeneCards: DNAAF4
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q21.3Start55,410,525 bp[1]
End55,508,234 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

161582

67685

Ensembl

ENSG00000256061

ENSMUSG00000092192

UniProt

Q8WXU2

Q8R368

RefSeq (mRNA)

NM_130810
NM_001033559
NM_001033560

NM_001163725
NM_026314

RefSeq (protein)

NP_001028731
NP_001028732
NP_570722

NP_001157197
NP_080590

Location (UCSC)Chr 15: 55.41 – 55.51 MbChr 9: 72.96 – 72.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

A mutation in the DYX1C1 gene has been associated with deficits in reading ability (dyslexia).[5][7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000256061 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000092192 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 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.
  6. ↑ "Entrez Gene: DYX1C1 dyslexia susceptibility 1 candidate 1".
  7. ↑ 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.

Further reading

  • 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.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • 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.
  • 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.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • 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. 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.


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