Journal of RNA and Genomics

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Short Communication - Journal of RNA and Genomics (2023) Volume 19, Issue 1

The importance of genetic imprinting in health and evolution.

Raham Sadeghzadeh*

Department of Medicine, Ain-Shams University, Cairo, Egypt

Corresponding Author:
Raham Sadeghzadeh
Department of Medicine,
Ain-Shams University,
Cairo, Egypt

Received: 02-Jan-2023, Manuscript No. RNAI-23-95177; Editor assigned: 04-Jan-2023, Pre QC No. RNAI-23-95177(PQ); Reviewed: 19-Jan-2023, QC No. RNAI-23-95177; Revised: 27-Jan-2023, Manuscript No. RNAI-23-95177(R); Published: 03-Feb-2023, DOI:10.4172/2591-7781.1000138.

Citation: Sadeghzadeh R. The importance of genetic imprinting in health and evolution. J RNA Genomics 2023;19(1):1-10.

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Genetic imprinting is a fascinating phenomenon that occurs in mammals, including humans, where certain genes are expressed differently depending on whether they are inherited from the mother or the father. This unique mode of gene regulation plays an important role in development and has significant implications for health and disease.

Genetic imprinting occurs during gametogenesis, the process of producing sperm and eggs, when specific genes are marked with chemical modifications that affect their activity. These modifications, such as DNA methylation, histone modification, and non-coding RNA molecules, can silence or activate genes in a parent-of-origin-specific manner. As a result, the expression of imprinted genes is tightly regulated, and their activity is biased towards either the maternal or paternal allele [1-3].

One of the key features of genetic imprinting is its sex-specific pattern. Imprinted genes are often found in clusters or domains, and their expression can vary depending on the sex of the individual. For example, in mice, the Igf2/H19 imprinted domain on chromosome 7 is paternally expressed, meaning that the paternal allele of Igf2 is active, while the maternal allele of H19 is active. In contrast, the maternal allele of Igf2 is silenced, and the paternal allele of H19 is silenced. This differential expression pattern is critical for proper development, as mutations or disruptions of imprinted genes can lead to a variety of developmental disorders [4].

Implications of genetic imprinting

One of the best-known examples of genetic imprinting in humans is seen in Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS), two neurodevelopmental disorders caused by imbalances in imprinted genes on chromosome. PWS is caused by the loss of paternal gene expression, while AS is caused by the loss of maternal gene expression. PWS is characterized by hyperphagia, intellectual disability, and other behavioral and endocrine abnormalities, while AS is characterized by severe developmental delays, ataxia, and a unique happy demeanor. These disorders highlight the importance of proper genetic imprinting for normal development and function of the brain [5-7].

Fetal growth and placental development

Genetic imprinting also plays a role in fetal growth and placental development. Imprinted genes are involved in regulating the exchange of nutrients between the mother and fetus through the placenta, influencing fetal growth rates. For example, the imprinted gene IGF2, which is paternally expressed, is a key regulator of fetal growth and is critical for normal placental function. Imprinting defects in genes involved in fetal growth and placental function can result in conditions such as Intrauterine Growth Restriction (IUGR) and preeclampsia, which are associated with adverse pregnancy outcomes [8,9].

Interestingly, genetic imprinting is not fixed and can be influenced by various environmental factors, such as diet, stress, and exposure to toxins. Studies in animal models have shown that changes in maternal nutrition during pregnancy, such as a high-fat diet or low-protein diet, can alter DNA methylation patterns in imprinted genes and affect offspring phenotype, including growth, metabolism, and behavior. These findings highlight the importance of environmental factors in modulating the epigenetic marks on imprinted genes and their potential impact on health and disease risk [10].

In addition to its role in development and reproduction, genetic imprinting has also been implicated in diseases such as cancer. Aberrant DNA methylation of imprinted genes has been observed in various types of cancer, including colorectal, ovarian, and breast cancer. Altered expression of imprinted genes can disrupt the normal balance of growth and proliferation, leading to uncontrolled cell growth and tumor formation. Imprinted genes, such as IGF2 and H19, have been shown to play critical roles in cancer progression and metastasis, and their dysregulation can be used as prognostic markers or therapeutic targets in cancer.


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