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The role of genomic imprinting in biology and disease: an expanding view
  • J. Peters
  • Biology, Medicine
  • Nature Reviews Genetics
  • 1 August 2014
It is shown that imprinted genes influence an extraordinarily wide-ranging array of biological processes, the effects of which extend into adulthood, and play important parts in common diseases that range from obesity to psychiatric disorders. Expand
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
The SHIRPA procedure is developed, which utilizes standardized protocols for behavioral and functional assessment that provide a sensitive measure for quantifying phenotype expression in the mouse, and can be refined to test the function of specific neural pathways, which will contribute to a greater understanding of neurological disorders. Expand
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse
A genome-wide, phenotype-driven screen for dominant mutations in the mouse is undertaken, which has led to a substantial increase in themouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics. Expand
The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding.
A paternally expressed transcript at the Gnas locus, Gnasxl, which encodes the unusual Gs alpha isoform XL alpha s is disrupted, providing tangible molecular support for the parental-conflict hypothesis of imprinting. Expand
Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.
The results suggest that the difference in imprinted expression in mouse and human is not due to acquisition of an imprint mark but in differences in the reading of this mark. Expand
A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2.
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, demonstrating an imprinting mechanism in which two oppositely imprinted genes share the same downstream exons. Expand
Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice
It is found that Sox18 is expressed in the developing vascular endothelium and hair follicles in mouse embryos, and this region contains point mutations in Sox18 in two different Ra alleles that result in missense translation and premature truncation of the encoded protein. Expand
Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
It is established that a paternally derived targeted deletion of the germline differentially methylated region (DMR) associated with the antisense Nespas transcript unexpectedly affects both the expression of all transcripts in the Gnas cluster and methylation of two DMRs. Expand
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
A genome-wide screen for novel N-ethyl-N-nitrosourea-induced mutations that give rise to eye and vision abnormalities in the mouse is carried out and 25 inherited phenotypes that affect all parts of the eye are identified. Expand
The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene.
Data suggest that there are tissue-specific forms of the translation elongation apparatus essential for postnatal survival in the mouse, and takes over from Eef1a2 in heart and muscle at precisely the time at which the wasted phenotype becomes manifest. Expand