Publications by authors named "Judith A Skinner"

Article Synopsis
  • Genomic imprinting leads to the silencing of specific gene alleles based on whether they come from the mother or the father, regulated by special regions that can affect nearby genes significantly.
  • Researchers have identified two important regions that control imprinting in the Gnas gene cluster on mouse chromosome 2, finding that one region affects the expression of Gnas itself while the other may influence related transcripts.
  • A study showed that deleting a specific methylation region linked to paternal expression of Gnas can reverse certain abnormalities in mice with a maternal Gnas mutation, indicating a complex control system for this gene and its neighbors.
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The Gnas locus is highly complex and encodes several oppositely imprinted and alternatively spliced transcripts. Gnas itself encodes Gsalpha, which is involved in endocrine function and bone development, but the roles for the other transcripts have not been established. Here we describe a mouse mutation that provides further biological functions for the Gnas locus.

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The Gnas locus on mouse Chr 2 represents a unique cluster of overlapping imprinted genes. Three of these in the order Nesp--Gnasxl--Gnas are transcribed in the sense direction with Nesp having maternal-specific expression, Gnasxl having paternal expression, and Gnas as being biallelically expressed in most tissues. A fourth imprinted gene, Nespas, is paternally expressed, lies antisense to Nesp, and expresses an unspliced transcript.

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