Genomic Imprinting: Epigenetics, Development, Disease

Clara M. Velasquez^*
*Correspondence: Clara M. Velasquez, Department of Human Genomics, Instituto de Biociencia del Pacífico, Lima, Peru, Email:

Introduction

Genomic imprinting, an epigenetic phenomenon, governs the monoallelic expression of specific genes based on parental origin. This review highlights its critical role in human development, metabolism, and behavior. It also details how disruptions in imprinting can lead to various developmental disorders and diseases, including Prader-Willi syndrome and Angelman syndrome, underscoring the delicate balance required for proper gene expression[1].

This article explores the fundamental epigenetic mechanisms underlying genomic imprinting, including DNA methylation and histone modifications. It elucidates how these precise molecular controls establish and maintain parental-specific gene expression. The discussion extends to the consequences of imprinting errors, linking them to a spectrum of developmental disorders and complex human diseases[2].

The evolution of genomic imprinting in mammals is a fascinating area, often explained by the parental conflict hypothesis. This paper delves into the evolutionary pressures that shaped imprinting patterns, particularly focusing on the role of epigenetic modifications in mediating this gene dosage control. It discusses how imprinting contributes to complex phenotypes and adaptive strategies across mammalian species[3].

This review explores the intricate relationship between genomic imprinting and cancer development. It highlights how dysregulation of imprinted genes can contribute to oncogenesis, tumor progression, and metastasis across various cancer types. The authors also discuss the potential of targeting these imprinted gene pathways for novel cancer therapies and diagnostic strategies[4].

This paper investigates the profound impact of genomic imprinting on brain development and function. It specifically focuses on how disruptions in imprinted gene expression contribute to a range of neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Understanding these mechanisms offers new insights into disease pathogenesis and potential therapeutic avenues[5].

This review delves into the essential role of genomic imprinting during mammalian reproduction and early embryonic development. It explains how imprinted genes regulate crucial processes like placental development, fetal growth, and postpartum adaptation. Dysregulation of these genes is often implicated in reproductive failures and adverse pregnancy outcomes[6].

Imprinted genes are increasingly recognized for their involvement in metabolic regulation. This paper examines how dysregulation of specific imprinted loci contributes to the pathogenesis of obesity, type 2 diabetes, and other metabolic syndromes. It highlights the complex interplay between genetic and epigenetic factors in determining metabolic health[7].

This article explores the emerging link between genomic imprinting and the aging process. It discusses how the maintenance of imprinting patterns can degrade with age, potentially contributing to the susceptibility to age-related diseases and the overall aging phenotype. Understanding these connections could open new avenues for anti-aging strategies[8].

Genomic imprinting plays a critical role in shaping brain development, influencing neuronal connectivity, and regulating neurocognitive functions. This article specifically examines how dysregulation of imprinted genes contributes to the etiology of various psychiatric disorders, including schizophrenia and bipolar disorder, offering insights into their complex genetic underpinnings[9].

This paper provides a comprehensive overview of the clinical implications arising from defects in genomic imprinting. It discusses various imprinting disorders, their diagnostic challenges, and current management strategies. The review emphasizes the importance of understanding parental-origin-specific gene expression for accurate diagnosis and genetic counseling in affected families[10].

Description

Genomic imprinting, an epigenetic phenomenon, governs the monoallelic expression of specific genes based on parental origin. This review highlights its critical role in human development, metabolism, and behavior. It also details how disruptions in imprinting can lead to various developmental disorders and diseases, including Prader-Willi syndrome and Angelman syndrome, underscoring the delicate balance required for proper gene expression[1]. This article explores the fundamental epigenetic mechanisms underlying genomic imprinting, including DNA methylation and histone modifications. It elucidates how these precise molecular controls establish and maintain parental-specific gene expression. The discussion extends to the consequences of imprinting errors, linking them to a spectrum of developmental disorders and complex human diseases[2].

The evolution of genomic imprinting in mammals is a fascinating area, often explained by the parental conflict hypothesis. This paper delves into the evolutionary pressures that shaped imprinting patterns, particularly focusing on the role of epigenetic modifications in mediating this gene dosage control. It discusses how imprinting contributes to complex phenotypes and adaptive strategies across mammalian species[3]. This review delves into the essential role of genomic imprinting during mammalian reproduction and early embryonic development. It explains how imprinted genes regulate crucial processes like placental development, fetal growth, and postpartum adaptation. Dysregulation of these genes is often implicated in reproductive failures and adverse pregnancy outcomes[6].

The profound impact of genomic imprinting on brain development and function is significant. It specifically focuses on how disruptions in imprinted gene expression contribute to a range of neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Understanding these mechanisms offers new insights into disease pathogenesis and potential therapeutic avenues[5]. Genomic imprinting plays a critical role in shaping brain development, influencing neuronal connectivity, and regulating neurocognitive functions. This article specifically examines how dysregulation of imprinted genes contributes to the etiology of various psychiatric disorders, including schizophrenia and bipolar disorder, offering insights into their complex genetic underpinnings[9].

This review explores the intricate relationship between genomic imprinting and cancer development. It highlights how dysregulation of imprinted genes can contribute to oncogenesis, tumor progression, and metastasis across various cancer types. The authors also discuss the potential of targeting these imprinted gene pathways for novel cancer therapies and diagnostic strategies[4]. Imprinted genes are increasingly recognized for their involvement in metabolic regulation. This paper examines how dysregulation of specific imprinted loci contributes to the pathogenesis of obesity, type 2 diabetes, and other metabolic syndromes. It highlights the complex interplay between genetic and epigenetic factors in determining metabolic health[7].

An emerging link exists between genomic imprinting and the aging process. It discusses how the maintenance of imprinting patterns can degrade with age, potentially contributing to the susceptibility to age-related diseases and the overall aging phenotype. Understanding these connections could open new avenues for anti-aging strategies[8]. This paper provides a comprehensive overview of the clinical implications arising from defects in genomic imprinting. It discusses various imprinting disorders, their diagnostic challenges, and current management strategies. The review emphasizes the importance of understanding parental-origin-specific gene expression for accurate diagnosis and genetic counseling in affected families[10].

Conclusion

Genomic imprinting, an epigenetic phenomenon, ensures monoallelic expression of specific genes based on parental origin. This process is vital for human development, metabolism, and behavior, with disruptions leading to disorders like Prader-Willi and Angelman syndromes. The underlying mechanisms involve precise epigenetic controls such as DNA methylation and histone modifications. The evolution of imprinting in mammals is often explained by the parental conflict hypothesis, with epigenetic changes mediating gene dosage control and contributing to complex phenotypes. Imprinting dysregulation is implicated in diverse health issues. It contributes to oncogenesis, tumor progression, and metastasis across various cancer types, suggesting potential therapeutic targets. Furthermore, disruptions in imprinted gene expression profoundly impact brain development and function, leading to neurodevelopmental conditions like autism spectrum disorder and intellectual disability. During mammalian reproduction and early embryonic development, imprinted genes regulate crucial processes such as placental formation and fetal growth; their dysregulation can result in reproductive failures. Beyond development, imprinted genes are crucial in metabolic regulation, with their dysregulation linked to obesity and type 2 diabetes. Their patterns can also degrade with age, potentially increasing susceptibility to age-related diseases. The intricate role of imprinting extends to psychiatric disorders, including schizophrenia and bipolar disorder, by influencing neuronal connectivity and neurocognitive functions. Understanding these clinical implications, diagnostic challenges, and management strategies for imprinting disorders is essential for accurate genetic counseling.

Acknowledgement

None

Conflict of Interest

None

References

Yong-Bin F, Guang-Lei L, Ya-Ru F. "Genomic Imprinting in Human Health and Disease".Front Genet 13 (2022):820641.

Indexed at, Google Scholar, Crossref

Yong-Bin F, Guang-Lei L, Jing-Hong C. "Genomic Imprinting: From Epigenetics to Developmental Diseases".Front Cell Dev Biol 11 (2023):1121081.

Indexed at, Google Scholar, Crossref

Robert SR, Andrew JS, David RD. "Evolution of genomic imprinting in mammals".Essays Biochem 66 (2022):145-155.

Indexed at, Google Scholar, Crossref

Qianqian F, Chenjie Z, Zekuan Y. "Genomic Imprinting in Cancer: The Emerging Roles and Therapeutic Potential".Front Oncol 10 (2020):1092.

Indexed at, Google Scholar, Crossref

Laura GS, Mariko SK, Masayo YN. "Genomic Imprinting and Its Role in Neurodevelopmental Disorders".Genes (Basel) 12 (2021):63.

Indexed at, Google Scholar, Crossref

Meng-Yang C, Xiao-Fei Z, Yu-Sheng L. "Genomic imprinting in reproduction and early development".Biol Reprod 107 (2022):864-874.

Indexed at, Google Scholar, Crossref

Ying-Qiang G, Hui-Yan C, Hao-Wen Q. "Emerging roles of imprinted genes in obesity and metabolic diseases".Front Cell Dev Biol 11 (2023):1289133.

Indexed at, Google Scholar, Crossref

Jinhui C, Jing HC, Hui FC. "Genomic Imprinting in Aging and Age-Related Diseases".Cells 11 (2022):549.

Indexed at, Google Scholar, Crossref

Yu-Sheng L, Meng-Yang C, Xiao-Fei Z. "Genomic Imprinting in Brain Development and Function: A Focus on Psychiatric Disorders".Cells 12 (2023):472.

Indexed at, Google Scholar, Crossref

Jun W, Yue Z, Ling-Bo D. "Clinical Significance of Genomic Imprinting Defects in Human Diseases".Front Genet 11 (2020):231.

Indexed at, Google Scholar, Crossref