Retrotransposons And Human Disease: L1 Retrotransposons As A Source Of Genetic Diversity

Retrotransposons were once thought to be a significant part of our genomes, but their function is still not fully understood. This book explores the diseases associated with L1 retrotransposon movement in the human genome, including cancers and neuropsychiatric disorders. It suggests that retrotransposons are a major source of human diversity and may have implications for mosaicism and single-gene diseases.

Format: Hardback
Length: 260 pages
Publication date: 14 September 2022
Publisher: World Scientific Publishing Co Pte Ltd

Thirty years ago, we had a limited understanding of retrotransposons, which accounted for at least half of our genomes. However, our knowledge of their biological role remained relatively limited. Since then, the human genome has been sequenced, revealing the precise position of all retrotransposons within the reference sequence. Despite this advancement, the function of retrotransposons remains largely enigmatic. We have gained substantial insights into the diseases associated with their movement and the host defenses we possess to combat them.

This comprehensive volume delves into a diverse range of human diseases linked to the movement of L1 retrotransposons within the human genome. It encompasses various disorders, such as colon cancer and neuropsychiatric conditions like schizophrenia. The chapters explore the diverse characteristics of retrotransposons, their distinct biological mechanisms, the role of L1 in their mobility, and their contribution to human diseases.

The authors of this book propose that somatic events triggered by retrotransposons play a significant role in mosaicism and are often associated with cancers. Germline events, which occur during early development and result in single-gene disorders, are also prevalent. Overall, the authors emphasize the importance of studying L1 retrotransposons as primary sources of human diversity and advocate for their ongoing exploration.

ISBN-13: 9789811249211