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Molecular cloning of human G{alpha}{sub q} cDNA and chromosomal localization of the G{alpha}{sub q} gene (GNAQ) and a processed pseudogene

Journal Article · · Genomics
; ;  [1]
  1. National Institute of Health, Bethesda, MD (United States); and others

G{alpha}{sub 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}{sub q}. The encoded protein is 359 amino acids long and is identical in all but one amino acid residue to mouse G{alpha}{sub q}. Analysis of human genomic DNA reveals an intronless sequence with strong homology to human G{alpha}{sub q} cDNA. In comparison to G{alpha}{sub 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}{sub 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}, gene (GNAQ) is located on chromosome 9. Regional localization by FISH analysis places GNAQ at 9q21 and the pseudogene at 2q14.3-q21. 32 refs., 2 figs.

OSTI ID:
437165
Journal Information:
Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 30; ISSN 0888-7543; ISSN GNMCEP
Country of Publication:
United States
Language:
English