Alternative transcripts and evidence of imprinting of GNAL on 18p11.2
Language: 
English
Abstract: 

Genetic studies implicating the region of human chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia have observed parent-of-origin effects that may be explained by genomic imprinting. We have identified a transcriptional variant of the GNAL gene in this region, employing an alternative first exon that is 5' to the originally identified start site. This alternative GNAL transcript encodes a longer functional variant of the stimulatory G-protein alpha subunit, Golf. The isoforms of Golf display different expression patterns in the CNS and functionally couple to the dopamine D1 receptor when heterologously expressed in Sf9 cells. In addition, there are CpG islands in the vicinity of both first exons that are differentially methylated, a hallmark of genomic imprinting. These results suggest that GNAL, and possibly other genes in the region, is subject to epigenetic regulation and strengthen the case for a susceptibility gene in this region.

Author(s): 
Corradi, J. P.
Ravyn, V.
Robbins, A. K.
Hagan, K. W.
Peters, M. F.
Bostwick, R.
Buono, R. J.
Berrettini, W. H.
Furlong, S. T.
Item Type: 
Journal Article
Publication Title: 
Molecular Psychiatry
Journal Abbreviation: 
Mol. Psychiatry
Publication Date: 
2005-11
Publication Year: 
2005
Pages: 
1017-1025
Volume: 
10
Issue: 
11
ISSN: 
1359-4184
DOI: 
10.1038/sj.mp.4001713
Library Catalog: 
PubMed
Extra: 
PMID: 16044173

Turabian/Chicago Citation

J. P. Corradi, V. Ravyn, A. K. Robbins, K. W. Hagan, M. F. Peters, R. Bostwick, R. J. Buono, W. H. Berrettini and S. T. Furlong. 2005-11. "Alternative transcripts and evidence of imprinting of GNAL on 18p11.2." Molecular Psychiatry 10: 11: 1017-1025. 10.1038/sj.mp.4001713.

Wikipedia Citation

<ref> {{Cite journal | doi = 10.1038/sj.mp.4001713 | issn = 1359-4184 | volume = 10 | pages = 1017-1025 | last = Corradi | first = J. P. | coauthors = Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T. | title = Alternative transcripts and evidence of imprinting of GNAL on 18p11.2 | journal = Molecular Psychiatry | date = 2005-11 | pmid = | pmc = }} </ref>