RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23468951http://www.w3.org/2000/01/rdf-schema#comment"The cation independent mannose 6-phosphate/insulin-like growth factor 2 receptor (IGF2R) functions in the transportation and regulation of insulin-like growth factor 2 (IGF2) and mannose 6-phosphate modified proteins. The relative and specific titration of IGF2 by high affinity binding of IGF2R represents a mechanism that supports the parental conflict theory of genomic imprinting. Imprinting of Igf2 (paternal allele expressed) and Igf2r (maternal allele expressed) arose to regulate the relative supply of both proteins. Experiments in the mouse have established that loss of the maternal allele of Igf2r results in disproportionate growth and peri-natal lethality. In order to systematically investigate the consequences of loss of function and of hypomorphic alleles of Igf2r on growth functions, we introduced a conditional human IGF2R exon 3-48 cDNA into the intron 2 region of murine Igf2r. Here we show that the knock-in construct resulted in over-growth when the humanised Igf2r allele was maternally transmitted, a phenotype that was rescued by either paternal transmission of the humanised allele, expression of a wild-type paternal allele or loss of function of Igf2. We also show that expression of IGF2R protein was reduced to less than 50% overall in tissues previously known to be Igf2 growth dependent. This occurred despite the detection of mouse derived peptides, suggesting that trans-splicing of the knock-in human cDNA with the endogenous maternal mouse Igf2r allele. The phenotype following maternal transmission of the humanised allele resulted in overgrowth of the embryo, heart and placenta with partial peri-natal lethality, suggesting that further generation of hypomorphic Igf2r alleles are likely to be at the borderline of maintaining Igf2 dependent viability."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0057270"xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/author"Hughes J."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/author"Frago S."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/author"Hassan A.B."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/author"Carter E.J."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/author"Buhnemann C."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/pages"e57270"xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/title"Maternal transmission of a humanised Igf2r allele results in an Igf2 dependent hypomorphic and non-viable growth phenotype."xsd:string
http://purl.uniprot.org/citations/23468951http://purl.uniprot.org/core/volume"8"xsd:string
http://purl.uniprot.org/citations/23468951http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23468951
http://purl.uniprot.org/citations/23468951http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/23468951
http://purl.uniprot.org/uniprot/#_A0A1Y7VJC1-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_A0A1Y7VNM3-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_A0A1Y7VNQ4-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_A0A1Y7VP49-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_B9EKB8-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_B0LAD8-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_B7ZWC4-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_D3Z4N4-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_J3QJZ9-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951
http://purl.uniprot.org/uniprot/#_Q3TX84-mappedCitation-23468951http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23468951