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CHRNE  -  cholinergic receptor, nicotinic, epsilon...

Homo sapiens

 
 
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Disease relevance of CHRNE

  • A frameshifting 7 bp deletion (epsilon553del7) in exon 7 of CHRNE encoding the acetylcholine receptor epsilon subunit, observed in seven congenital myasthenic syndrome patients, enhances expression of an aberrantly spliced transcript that skips the preceding 101 bp exon 6 [1].
 

High impact information on CHRNE

  • To recapitulate the aberrant splicing, we cloned the entire CHRNE spanning 12 exons and 11 introns and expressed it in COS cells [1].
  • Inhibition of protein synthesis and of nonsense-mediated mRNA decay (NMD) by anisomycin shows that even wild-type CHRNE produces an exon 6-skipped transcript, and that even epsilon553del7-CHRNE yields a normally spliced transcript [1].
  • D17S1175: dinucleotide repeat polymorphism 5' to CHRNE [2].
  • In contrast, the corresponding amino acid substitution in the cytoplasmic loop of the AChR epsilon (CHRNE E376K) as well as a recently reported CMS mutation affecting this domain (CHRNE N436del) had no impact on cluster formation [3].
  • Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries [4].

References

  1. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Ohno, K., Milone, M., Shen, X.M., Engel, A.G. Hum. Mol. Genet. (2003) [Pubmed]
  2. D17S1175: dinucleotide repeat polymorphism 5' to CHRNE. Betty, M., Beeson, D., West, L., Vincent, A., Newsom-Davis, J. Hum. Mol. Genet. (1994) [Pubmed]
  3. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. M??ller, J.S., Baumeister, S.K., Schara, U., Cossins, J., Krause, S., von der Hagen, M., Huebner, A., Webster, R., Beeson, D., Lochm??ller, H., Abicht, A. Brain (2006) [Pubmed]
  4. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. Ohno, K., Tsujino, A., Shen, X.M., Milone, M., Engel, A.G. J. Med. Genet. (2005) [Pubmed]
 
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