title: BEGAIN: a novel imprinted gene that generates paternally expressed transcripts in a tissue- and promoter-specific manner in sheep.
abstract: In this article we describe the organization of the ovine BEGAIN gene, located 138 kb proximally from the imprinted DLK1 gene and 203 kb from the CLPG mutation that causes the callipyge phenotype. We have shown that in sheep BEGAIN is ubiquitously expressed, including in skeletal muscle, throughout development. We have identified four major BEGAIN transcripts resulting from a combination of alternate promoter usage and alternative splicing. In ovine brain, kidney, liver, and skeletal muscle, these four BEGAIN transcripts exhibited paternal or biallelic expression in a tissue- and promoter-specific manner. Our results indicate that the CLPG mutation does not alter transcript levels of BEGAIN, contrary to its effect on a core cluster of genes in the DLK1-GTL2 domain. Thus, although the BEGAIN gene represents another paternally expressed gene in the ovine DLK1-GTL2 imprinted domain, its expression is not governed by the long-range regulatory element that contains the CLPG mutation.
authors.affiliation: Department of Animal, Dairy, and Veterinary Sciences, Utah State University, 4700 Old Main Hill, Logan, Utah 84322-4700, USA.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Smit
authors.forename: Xavier
authors.initials: X
authors.lastname: Tordoir
authors.forename: Gabor
authors.initials: G
authors.lastname: Gyapay
authors.forename: Noelle E
authors.initials: NE
authors.lastname: Cockett
authors.forename: Michel
authors.initials: M
authors.lastname: Georges
authors.forename: Carole
authors.initials: C
authors.lastname: Charlier
mesh_terms: D000818:Animals; D019175:DNA Methylation; D018507:Gene Expression Regulation, Developmental; D018392:Genomic Imprinting; D005838:Genotype; D008565:Membrane Proteins / Q000235:genetics; D018482:Muscle, Skeletal; D009135:Muscular Diseases / Q000235:genetics / Q000662:veterinary*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012045:Regulatory Sequences, Nucleic Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000074407:SAP90-PSD95 Associated Proteins; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D012757:Sheep Diseases / Q000235:genetics*; D034561:Sheep, Domestic / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D000074407:SAP90-PSD95 Associated Proteins; D014157:Transcription Factors