A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2

Peters, J., Wroe, S. F., Wells, C. A., Miller, H. J., Bodle, D., Beechey, C. V., Williamson, C. M. and Kelsey, G. (1999). A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. In: National-Academy-of-Sciences Colloquium on Geology, Mineralogy, and Human Welfare, Irvine, CA, United States, (3830-3835). 8-9 November 1998. doi:10.1073/pnas.96.7.3830


Author Peters, J.
Wroe, S. F.
Wells, C. A.
Miller, H. J.
Bodle, D.
Beechey, C. V.
Williamson, C. M.
Kelsey, G.
Title of paper A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2
Conference name National-Academy-of-Sciences Colloquium on Geology, Mineralogy, and Human Welfare
Conference location Irvine, CA, United States
Conference dates 8-9 November 1998
Journal name Proceedings of the National Academy of Sciences of the United States of America   Check publisher's open access policy
Place of Publication Washington, DC, United States
Publisher National Academy of Sciences
Publication Year 1999
Sub-type Fully published paper
DOI 10.1073/pnas.96.7.3830
ISSN 0027-8424
Volume 96
Issue 7
Start page 3830
End page 3835
Total pages 5
Language eng
Abstract/Summary Imprinted genes tend to occur in clusters. We have identified a cluster in distal mouse chromosome (Chr) 2, known from early genetic studies to contain both maternally and paternally imprinted, but unspecified, genes. Subsequently, one was identified as Gnas, which encodes a G protein α subunit, and there is clinical and biochemical evidence that the human homologue GNAS1, mutated in patients with Albright hereditary osteodystrophy, is also imprinted. We have used representational difference analysis, based on parent-of-origin methylation differences, to isolate candidate imprinted genes in distal Chr 2 and found two oppositely imprinted genes, Gnasxl and Nesp. Gnasxl determines a variant G protein α subunit associated with the trans-Golgi network and Nesp encodes a secreted protein of neuroendocrine tissues. Gnasxl is maternally methylated in genomic DNA and encodes a paternal-specific transcript, whereas Nesp is paternally methylated with maternal-specific expression. Their reciprocal imprinting may offer insight into the distal Chr 2 imprinting phenotypes. Remarkably, Gnasxl, Nesp, and Gnas are all part of the same transcription unit; transcripts for Gnasxl and Nesp are alternatively spliced onto exon 2 of Gnas. This demonstrates an imprinting mechanism in which two oppositely imprinted genes share the same downstream exons.
Q-Index Code E1
Q-Index Status Provisional Code
Institutional Status Non-UQ

 
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