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Open Access Articles- Top Results for CHD2

CHD2

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCHD2 ; EEOC
External IDsOMIM602119 MGI2448567 HomoloGene37462 GeneCards: CHD2 Gene
EC number3.6.4.12
RNA expression pattern
File:PBB GE CHD2 203461 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez1106244059
EnsemblENSG00000173575ENSMUSG00000078671
UniProtO14647E9PZM4
RefSeq (mRNA)NM_001042572NM_001081345
RefSeq (protein)NP_001036037NP_001074814
Location (UCSC)Chr 15:
93.43 – 93.57 Mb
Chr 7:
73.43 – 73.54 Mb
PubMed search[1][2]

Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene.[1][2]

Function

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. CHD2 catalyzes the assembly of chromatin into periodic arrays; and the N-terminal region of CHD2, which contains tandem chromodomains, serves an auto-inhibitory role in both the DNA-binding and ATPase activities of CHD2. [3] Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[2]

Clinical significance

De Novo Mutations and deletions in this gene have been associated with cases of epileptic encephalopathies.[4][5][6][7][8]

CHD2 epilepsy is increasingly being identified as a subpopulation of Lennox-Gastaut Syndrome.[9][10]

Recently, de novo mutations or deletions in CHD2 has been linked to intellectual disability[11] and to autism.[12][13][14] Researchers found 27 genes which abolish function of the corresponding protein — in at least two people with autism, and 6 genes are mutated in three or more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far.

Family support

Syndromes associated with mutations or deletions in CHD2 can be devastating. Families of individuals with CHD2 mutations or deletions can join a research and support group.[15]

References

  1. ^ Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Nov 1997). "Characterization of the CHD family of proteins". Proc Natl Acad Sci U S A 94 (21): 11472–7. PMC 23509. PMID 9326634. doi:10.1073/pnas.94.21.11472. 
  2. ^ a b "Entrez Gene: CHD2 chromodomain helicase DNA binding protein 2". 
  3. ^ Liu JC, Ferreira CG, Yusufzai T (2014). "Human CHD2 Is a Chromatin Assembly ATPase Regulated by Its Chromo- and DNA-binding Domains". J Biol Chem. PMID 25384982. doi:10.1074/jbc.M114.609156. 
  4. ^ Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J et al. (2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nat. Genet. 45 (7): 825–30. PMC 3704157. PMID 23708187. doi:10.1038/ng.2646. 
  5. ^ Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW et al. (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". J Neurodev Disord 6: 9. PMC 4022362. PMID 24834135. doi:10.1186/1866-1955-6-9. 
  6. ^ Suls A, Jaehn JA, Kecskés A et al. (2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". Am J Hum Genet 93: 967-975. PMC 3824114. PMID 24207121. doi:10.1016/j.ajhg.2013.09.017. 
  7. ^ EuroEPINOMICS-RES C (2014). "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies". Am J Hum Genet 95: 360–370. PMC 4185114. PMID 25262651. doi:10.1016/j.ajhg.2014.08.013. 
  8. ^ Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C (2014). "15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity". Eur J Med Genet. 57: 520-523. PMID 24932903. doi:10.1016/j.ejmg.2014.06.003. 
  9. ^ Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014). "CHD2 mutations in Lennox-Gastaut syndrome". Epilepsy Behav. 33: 18-21. PMID 24614520. doi:10.1016/j.yebeh.2014.02.005. 
  10. ^ Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC et al. (2012). "Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency". Eur J Med Genet. 55: 132-134. PMID 22178256. doi:10.1016/j.ejmg.2011.10.004. 
  11. ^ Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L et al. (2014). "De novo mutations in moderate or severe intellectual disability". PLoS Genet. 10: 10. PMC 4214635. PMID 25356899. doi:10.1371/journal.pgen.1004772. 
  12. ^ Iossifov I, O'Roak BJ, Sanders SJ et al. (2014). "The contribution of de novo coding mutations to autism spectrum disorder". Nature 515: 10216-221. PMID 25363768. doi:10.1038/nature13908. 
  13. ^ De Rubeis S, He X, Goldberg AP et al. (2014). "Synaptic, transcriptional and chromatin genes disrupted in autism = Nature" 515. p. 209–215. PMID 25363760. doi:10.1038/nature13772. 
  14. ^ O'Roak BJ, Stessman HA, Boyle EA et al. (2014). "Recurrent de novo mutations implicate novel genes underlying simplex autism risk". Nat Commun. 5: 5595. PMID 25418537. doi:10.1038/ncomms6595. 
  15. ^ https://www.facebook.com/groups/1462485137354985/

Further reading

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External links


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