Related Experiment Video
Updated: Jun 11, 2025
11:03
Conditional Genetic Transsynaptic Tracing in the Embryonic Mouse Brain
Published on: December 22, 2014
18.7K
PRKACB is a novel imprinted gene in marsupials
Trent Newman1, Donna M Bond2, Teruhito Ishihara1,3
1School of BioSciences, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Epigenetics & Chromatin
|September 28, 2024
Summary
Genomic imprinting, a parent-specific gene expression, was investigated in marsupials. Researchers identified the PRKACB gene as a novel imprinted gene in marsupials, suggesting conserved imprinting of the protein kinase A pathway in mammals.
Area of Science:
- Genomics
- Epigenetics
- Mammalian Evolution
Background:
- Genomic imprinting, crucial for parent-of-origin-specific gene expression, is exclusive to therian mammals (marsupials and eutherians).
- Differentially methylated regions (DMRs) mark imprinted genes by exhibiting distinct methylation patterns between parental alleles.
- The PRKACB gene, encoding protein kinase A catalytic subunit beta, is implicated in endocrine neoplasia and developmental disorders, but its imprinting status in eutherians is unknown.
Purpose of the Study:
- To identify novel imprinted genes in marsupials using a computational approach to detect DMRs.
- To investigate the imprinting status of the PRKACB gene in marsupials.
- To compare imprinting mechanisms between marsupials and eutherians, focusing on the protein kinase A signaling pathway.
Main Methods:
- Developed a computational pipeline to identify CpG islands (CGIs) with differential methylation signals in whole genome bisulfite sequencing data.
- Applied this pipeline to a koala methylome to detect candidate marsupial DMRs.
- Performed allele-specific expression analysis to confirm imprinting and characterized the PRKACB locus in marsupials and eutherians.
Main Results:
- Identified a novel DMR associated with the PRKACB gene in marsupials (tammar wallaby and brushtail possum), with maternal allele methylation and paternal allele unmethylation.
- Detected paternal expression of a PRKACB long non-coding RNA (lncRNA) and an mRNA isoform.
- Observed that the CGI at the PRKACB locus is longer in marsupials than in eutherians, and found differences in GNAS methylation patterns between koalas and mice.
Conclusions:
- PRKACB is identified as a novel imprinted gene in marsupials, marked by a DMR.
- The imprinting of PRKACB in marsupials and GNAS in eutherians suggests a conserved evolutionary pressure for imprinting within the protein kinase A signaling pathway in therian mammals.
- Different genes within the same pathway may have been adapted for imprinting in marsupial and eutherian lineages.
Related Concept Videos
01:16In-vitro Mutagenesis
13.8K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
13.8K
02:30Genomic Imprinting and Inheritance
34.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.1K