Abstract
Through large-scale sequencing of genomic DNA from human chromosome 8p22–p21.3 we have isolated two novel genes, designated GK1 and G5. Their predicted products showed no significant similarity to any known proteins in public databases. A comparison of GK1 cDNA sequences, which encode a 1270-amino-acid protein, with corresponding genomic DNA sequences revealed that this gene consists of 15 exons and spans an approximately 113-kb genomic region. Northern blot analysis revealed ubiquitous expression of 7.0- and 4.4-kb transcripts; in addition, we detected a 5.0-kb skeletal muscle-specific transcript and a 4.0-kb transcript specifically expressed in heart and pancreas. Computer and immunocytochemical analyses of a GK1 Green fluolesent protein (GFP) fused construct indicated that the gene product, which contains putative leucine-zipper domains, was likely to be a mitochondrial protein. The other novel gene, G5, expressed four transcripts (4.2, 2.2, 1.7, and 1.0-kb) ubiquitously; the longer three transcripts, which differed only in the 3′-non coding region, encoded identical 397-amino-acid peptides. The G5 gene consists of 14 exons and spans approximately 52 kb of genomic DNA; its deduced 397-amino acid product appears to contain coiled-coil domains and a proline-rich region, and to be located in cytoplasm.
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Received: August 30, 1999 / Accepted: October 6, 1999
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Kinjo, T., Isomura, M., Iwamasa, T. et al. Molecular cloning and characterization of two novel genes on chromosome 8p21.3. J Hum Genet 45, 12–17 (2000). https://doi.org/10.1007/s100380050003
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DOI: https://doi.org/10.1007/s100380050003