ArticleMolecular and cellular biology2012
New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling.
Article in Molecular and cellular biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- Genetic Architecture of Feeding Behavior and Feed Efficiency in a Duroc Pig Population.Frontiers in genetics · 2018Article
- Species-Specific 5 mC and 5 hmC Genomic Landscapes Indicate Epigenetic Contribution to Human Brain Evolution.Frontiers in molecular neuroscience · 2018Article
- New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain.Annual review of neuroscience · 2016Review
- Antisense Activity across theNon-coding RNA · 2015Article
- The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.Science signaling · 2015Article
- GNAS Spectrum of Disorders.Current osteoporosis reports · 2015Review
- Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.The Journal of clinical endocrinology and metabolism · 2015Article
- Article
- The role of genomic imprinting in biology and disease: an expanding view.Nature reviews. Genetics · 2014Review
- Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Analysis of the associations between polymorphisms in GNAS complex locus and growth, carcass and meat quality traits in pigs.Molecular biology reports · 2013Article
- Maternal inheritance of the Gnas cluster mutation Ex1A-T affects size, implicating NESP55 in growth.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.Hormone research in paediatrics · 2013Review
- Gene Dosage Effects at the Imprinted Gnas Cluster.PloS one · 2013Article
- Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.Frontiers in genetics · 2012Article
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Authors and funding
9 authors at 2 institutions in 1 country.
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Abstract
The imprinted Gnas cluster is involved in obesity, energy metabolism, feeding behavior, and viability. Relative contribution of paternally expressed proteins XLαs, XLN1, and ALEX or a double dose of maternally expressed Gsα to phenotype has not been established. In this study, we have generated two new mutants (Ex1A-T-CON and Ex1A-T) at the Gnas cluster. Paternal inheritance of Ex1A-T-CON leads to loss of imprinting of Gsα, resulting in preweaning growth retardation followed by catch-up growth. Paternal inheritance of Ex1A-T leads to loss of imprinting of Gsα and loss of expression of XLαs and XLN1. These mice have severe preweaning growth retardation and incomplete catch-up growth. They are fully viable probably because suckling is unimpaired, unlike mutants in which the expression of all the known paternally expressed Gnasxl proteins (XLαs, XLN1 and ALEX) is compromised. We suggest that loss of ALEX is most likely responsible for the suckling defects previously observed. In adults, paternal inheritance of Ex1A-T results in an increased metabolic rate and reductions in fat mass, leptin, and bone mineral density attributable to loss of XLαs. This is, to our knowledge, the first report describing a role for XLαs in bone metabolism. We propose that XLαs is involved in the regulation of bone and adipocyte metabolism.
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