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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

JRK  -  Jrk homolog (mouse)

Homo sapiens

Synonyms: JH8, Jerky protein homolog, jerky
 
 
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High impact information on JRK

  • Systematic sequencing of the coding region of the extended JRK/JH8 gene identified single nucleotide polymorphisms that define three haplotypes, which were used for association studies in patients with idiopathic generalized epilepsy [1].
  • Thus, negative results of mutation analyses and detailed physical mapping exclude JRK/JH8 as the ECA1 gene [2].
  • Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24 [2].
  • The epilepsy phenotype of the mice with inactivated jerky gene as well as its chromosomal localization proposed JRK/JH8 as a prominent candidate for the CAE gene [2].
  • Fluorescence in situ Hybridization (FISH) analysis and radiation hybrid panel mapping revealed that the JH8 gene was located on chromosome band 8q24.3 in a region that was syntenic to mouse chromosome 15, the mapping site of the mouse jerky gene [3].
 

Biological context of JRK

  • Sequence analysis of these clones named JH8 (jerky homologue of Human on chromosome 8) indicated that it encoded a putative protein with 520 amino acid residues [3].
 

Other interactions of JRK

  • We speculate that JRK protein associates with a specific chromosomal centromeric locus in G(2), where it associates fully with PML bodies [4].
 

Analytical, diagnostic and therapeutic context of JRK

  • Northern blot analysis showed that the JH8 gene is expressed ubiquitously with a major transcript of about 9.5 kb in size [3].

References

  1. Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. Moore, T., Hecquet, S., McLellann, A., Ville, D., Grid, D., Picard, F., Moulard, B., Asherson, P., Makoff, A.J., McCormick, D., Nashef, L., Froguel, P., Arzimanoglou, A., LeGuern, E., Bailleul, B. Epilepsy Res. (2001) [Pubmed]
  2. Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Morita, R., Miyazaki, E., Shah, P.U., Castroviejo, I.P., Delgado-Escueta, A.V., Yamakawa, K. Epilepsy Res. (1999) [Pubmed]
  3. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Morita, R., Miyazaki, E., Fong, C.Y., Chen, X.N., Korenberg, J.R., Delgado-Escueta, A.V., Yamakawa, K. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  4. Complex regulation and nuclear localization of JRK protein. Waldron, R., Moore, T. Biochem. Soc. Trans. (2004) [Pubmed]
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