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

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Gene Review: 

CNA1  -  cornea plana 1 (autosomal dominant)

Homo sapiens

 
 
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High impact information on CNA1

  • Haploid cells containing a single cna1 or cna2 null mutation, or both mutations, were viable [1].
  • We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis and excluded linkage to that locus in two Finnish CNA1 families [2].
  • By this approach, we have readily disrupted the genes encoding a MAPK homolog (CPK1), the calcineurin A catalytic subunit (CNA1), and a G protein alpha subunit (GPA1) [3].
  • CONCLUSIONS: These results, combined with previous genetic linkage studies, identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1 [4].

References

  1. Yeast has homologs (CNA1 and CNA2 gene products) of mammalian calcineurin, a calmodulin-regulated phosphoprotein phosphatase. Cyert, M.S., Kunisawa, R., Kaim, D., Thorner, J. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  2. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Tahvanainen, E., Villanueva, A.S., Forsius, H., Salo, P., de la Chapelle, A. Genome Res. (1996) [Pubmed]
  3. Gene disruption by biolistic transformation in serotype D strains of Cryptococcus neoformans. Davidson, R.C., Cruz, M.C., Sia, R.A., Allen, B., Alspaugh, J.A., Heitman, J. Fungal Genet. Biol. (2000) [Pubmed]
  4. Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. Tocyap, M.L., Azar, N., Chen, T., Wiggs, J. Am. J. Ophthalmol. (2006) [Pubmed]
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