Molecular genetics and structural genomics of the human protein kinase C gene module.
BACKGROUND
Protein kinase C (PKC) has become a major focus among cell biologists interested in second-messenger signal transduction and much has been learned about differences in the cellular localization and function of its different isotypes. In this study we systematically address the genomic locations and gene structures of the human PKC gene module.


RESULTS
We first carried out fine chromosomal mapping of all nine PKC genes by fluorescence in situ hybridization (FISH), using cosmid and BAC probes. The PKC genes are found to be dispersed throughout the genome, and in some positions distinct from those previously reported: PKCalpha is at 17q24, PKCbeta at 16p12, PKCgamma at 19q13.4, PKCdelta at 3p21.2, PKCepsilon at 2p21, PKCzeta at 1p36.3, PKCeta at 14q22-23, PKCtheta; at 10p15 and PKCiota at 3q26. For PKCiota, an additional FISH signal mapped on Xq21.3 revealed a pseudogene (derived by retrotransposition). PKCgamma, zeta, and theta; are found to map to the most distal positions on the chromosomes, potentially implicating telomere position effects in their expression. Using the complete human genome draft sequence and bioinformatics tools, we then carried out a systematic analysis of PKC gene structure, including determination of the occurrence of single-nucleotide polymorphisms corresponding to the PKC loci.


CONCLUSIONS
This resource of genomic information now facilitates investigation of the PKC gene module in structural chromosomal abnormalities and human disease locus mapping studies.
Kofler
Kurt
K
Institute for Medical Biology and Human Genetics, University of Innsbruck, Schoepfstrasse 41, A-6020 Innsbruck, Austria. Gottfried.Baier@uibk.ac.at
Erdel
Martin
M
Utermann
Gerd
G
Baier
Gottfried
G
D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D002874:Chromosome Mapping / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D023281:Genomics / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007527:Isoenzymes / Q000235:genetics; D051379:Mice; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011493:Protein Kinase C / Q000235:genetics*; D051381:Rats
D005819:Genetic Markers; D007527:Isoenzymes; D011493:Protein Kinase C