Bioinformatics Epigenetics Genetics

Genomic Imprinting

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Genomic imprinting is an inheritance process independent of the classical Mendelian inheritance. It is an epigenetic process that involves DNA methylation and histone methylation without altering the genetic sequence.

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner. Genes however, can also be partially imprinted. Partial imprinting happens when alleles from both parents are differently expressed rather than complete expression and complete suppression of one parents allele. Forms of genomic imprinting have been demonstrated in fungi, plants and animals. As of 2014, there are about 150 imprinted genes known in the mouse and about half that in humans. In 2019, 260 imprinted genes have been reported in mice and 228 in humans. 

In genes that undergo genomic imprinting, the parent of origin is often marked, or “stamped,” on the gene during the formation of egg and sperm cells. This stamping process, called methylation, is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. These molecules identify which copy of a gene was inherited from the mother and which was inherited from the father. The addition and removal of methyl groups can be used to control the activity of genes.

Only a small percentage of all human genes undergo genomic imprinting. Researchers are not yet certain why some genes are imprinted and others are not. They do know that imprinted genes tend to cluster together in the same regions of chromosomes. Two major clusters of imprinted genes have been identified in humans, one on the short (p) arm of chromosome 11 and another on the long (q) arm of chromosome 15.

During gametogenesis, imprinted regions of DNA are differentially marked in accordance to the sex of the parent, resulting in parent-specific expression.

The imprinted domains of mammals, plants, and insects represent distinct imprint events that do not share conserved sequence origins. While there are no universal templates that can be applied adequately to explain the regulation of all imprinted domains, either within or between organisms, there are common themes in the epigenetic mechanisms utilized and the multiple levels of regulation required to execute this parent-dependent mode of inheritance. As an epigenetic process, genomic imprinting alters gene expression without altering DNA sequence. However, DNA sequences are important in demarcating an imprinted domain. Imprinting control regions (ICRs) are often composed of repetitive DNA sequences found flanking, or internal to, imprinted genes, and in most cases, removal of an ICR will result in a loss of imprinting. Epigenetic modifiers of gene expression such as DNA methylation, histone modification, non-RNA, and higher-order chromatin formation act within ICRs to establish and maintain the imprinted state. ICRs act as nucleation sites for gene silencing or activation and are able to regulate expression of a single gene or an entire gene cluster. Enhancers and boundary elements are often associated with ICRs to restrict imprinted regulation to specific domains.

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