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PMID:8825633

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Citation

Dong, Q, Shenker, A, Way, J, Haddad, BR, Lin, K, Hughes, MR, McBride, OW, Spiegel, AM and Battey, J (1995) Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene. Genomics 30:470-75

Abstract

G alpha q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C beta. We report the isolation and characterization of cDNA clones from a frontal cortex cDNA library encoding human G alpha q. The encoded protein is 359 amino acids long and is identical in all but one amino acid residue to mouse G alpha q. Analysis of human genomic DNA reveals an intronless sequence with strong homology to human G alpha q cDNA. In comparison to G alpha q cDNA, this genomic DNA sequence includes several small deletions and insertions that alter the reading frame, multiple single base changes, and a premature termination codon in the open reading frame, hallmarks of a processed pseudogene. Probes derived from human G alpha q cDNA sequence map to both chromosomes 2 and 9 in high-stringency genomic blot analyses of DNA from a panel of human-rodent hybrid cell lines. PCR primers that selectively amplify the pseudogene sequence generate a product only when DNA containing human chromosome 2 is used as the template, indicating that the authentic G alpha q gene (GNAQ) is located on chromosome 9. Regional localization by FISH analysis places GNAQ at 9q21 and the pseudogene at 2q14.3-q21.

Links

PubMed Online version:10.1006/geno.1995.1267

Keywords

Animals; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 2/genetics; Chromosomes, Human, Pair 9/genetics; Cloning, Molecular; DNA, Complementary; GTP-Binding Protein alpha Subunits, Gs/genetics; Humans; Hybrid Cells; Mice; Molecular Sequence Data; Pseudogenes/genetics; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:GNAQ

involved_in

GO:0007202: activation of phospholipase C activity

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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