BEGAIN: a novel imprinted gene that generates paternally expressed transcripts in a tissue- and promoter-specific manner in sheep

Mamm Genome. 2005 Oct;16(10):801-14. doi: 10.1007/s00335-004-2415-z. Epub 2005 Oct 29.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA Methylation
  • Gene Expression Regulation, Developmental*
  • Genomic Imprinting*
  • Genotype
  • Membrane Proteins / genetics
  • Muscle, Skeletal
  • Muscular Diseases / genetics
  • Muscular Diseases / veterinary*
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Regulatory Sequences, Nucleic Acid
  • Reverse Transcriptase Polymerase Chain Reaction
  • SAP90-PSD95 Associated Proteins
  • Sequence Alignment
  • Sequence Homology, Nucleic Acid
  • Sheep Diseases / genetics*
  • Sheep, Domestic / genetics*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • SAP90-PSD95 Associated Proteins
  • Transcription Factors