Biomaterial Database

Trans-allelic mutational effects at the Peg3 imprinted locus. 2018

Corey L Bretz, and Joomyeong Kim

Department of Biological Sciences, Louisiana State University, Baton Rouge, LA, United States of America.

How one allele interacts with the other for the function of a gene is not well understood. In this study, we tested potential allelic interaction at the Peg3 imprinted locus with several mutant alleles targeting an Imprinting Control Region, the Peg3-DMR. According to the results, maternal deletion of the Peg3-DMR resulted in 2-fold up-regulation of two paternally expressed genes, Peg3 and Usp29. These trans-allelic mutational effects were observed consistently throughout various tissues with different developmental stages. These effects were also associated mainly with the genetic manipulation of the Peg3-DMR, but not with the other genomic changes within the Peg3 locus. The observed trans-allelic effects were unidirectional with the maternal influencing the paternal allele, but not with the opposite direction. Overall, the observed mutational effects suggest the presence of previously unrecognized trans-allelic regulation associated with the Peg3-DMR.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005260	Female		Females
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D014018	Tissue Distribution	Accumulation of a drug or chemical substance in various organs (including those not relevant to its pharmacologic or therapeutic action). This distribution depends on the blood flow or perfusion rate of the organ, the ability of the drug to penetrate organ membranes, tissue specificity, protein binding. The distribution is usually expressed as tissue to plasma ratios.	Distribution, Tissue,Distributions, Tissue,Tissue Distributions
D051379	Mice	The common name for the genus Mus.	Mice, House,Mus,Mus musculus,Mice, Laboratory,Mouse,Mouse, House,Mouse, Laboratory,Mouse, Swiss,Mus domesticus,Mus musculus domesticus,Swiss Mice,House Mice,House Mouse,Laboratory Mice,Laboratory Mouse,Mice, Swiss,Swiss Mouse,domesticus, Mus musculus
D051741	Kruppel-Like Transcription Factors	A family of zinc finger transcription factors that share homology with Kruppel protein, Drosophila. They contain a highly conserved seven amino acid spacer sequence in between their ZINC FINGER MOTIFS.	Kruppel-Like Factor,Kruppel-Like Transcription Factor,Kruppel-Like Factors,Factor, Kruppel-Like,Factor, Kruppel-Like Transcription,Kruppel Like Factor,Kruppel Like Factors,Kruppel Like Transcription Factor,Kruppel Like Transcription Factors,Transcription Factor, Kruppel-Like,Transcription Factors, Kruppel-Like
D018392	Genomic Imprinting	The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)	Genetic Imprinting,Parental Imprinting,Imprinting, Genetic,Imprinting, Genomic,Imprinting, Parental
D018507	Gene Expression Regulation, Developmental	Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.	Developmental Gene Expression Regulation,Embryologic Gene Expression Regulation,Gene Expression Regulation, Embryologic,Regulation of Gene Expression, Developmental,Regulation of Gene Expression, Embryologic,Regulation, Gene Expression, Developmental,Regulation, Gene Expression, Embryologic
D064570	Ubiquitin-Specific Proteases	Members of the peptidase C19 family which regulate signal transduction by removing UBIQUITIN from specific protein substrates via a process known as deubiquitination or deubiquitylation.	Ubiquitin-Specific Peptidase,Ubiquitin-Specific Protease,Ubiquitin-Specific Peptidases,Ubiquitin-Specific Protease Family,Peptidase, Ubiquitin-Specific,Peptidases, Ubiquitin-Specific,Protease Family, Ubiquitin-Specific,Protease, Ubiquitin-Specific,Proteases, Ubiquitin-Specific,Ubiquitin Specific Peptidase,Ubiquitin Specific Peptidases,Ubiquitin Specific Protease,Ubiquitin Specific Protease Family,Ubiquitin Specific Proteases