Generic placeholder image

Current Genomics

Editor-in-Chief

ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism

Author(s): Heike Nelle, Anja Weise, Marianne Volleth, Raimund Fahsold, Sylvia Wilhelm, Erich Gebhart, Karen Thoma, Samarth Bhatt, Thomas Liehr, Hasmik Mkrtchyan, Elisabeth Ewers, Nadezda Kosyakova, Kristin Mrasek, Marina Manvelyan, Anna Polytiko, Sophie Hinreiner and Madeleine Gross

Volume 11, Issue 6, 2010

Page: [426 - 431] Pages: 6

DOI: 10.2174/138920210793176047

Price: $65

Abstract

The discovery of copy number variations (CNV) in the human genome opened new perspectives in the study of the genetic causes of inherited disorders and the etiology of common diseases. Differently patterned instances of somatic mosaicism in CNV regions have been shown to be present in monozygotic twins and throughout different tissues within an individual. A single-cell-level investigation of CNV in different human cell types led us to uncover mitotically derived genomic mosaicism, which is stable in different cell types of one individual. A unique study of immortalized Blymphoblastoid cell lines obtained with 20 year interval from the same two subjects shows that mitotic changes in CNV regions may happen early during embryonic development and seem to occur only once, as levels of mosaicism remained stable. This finding has the potential to change our concept of dynamic human genome variation. We propose that further genomic studies should focus on the single-cell level, to understand better the etiology and physiology of aging and diseases mediated by somatic variations.

Keywords: Copy number variations, pod-FISH, mosaicism


Rights & Permissions Print Cite
© 2024 Bentham Science Publishers | Privacy Policy