Somatic Mosaicism in the Human Genome
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body and are not transmitted to progeny. These mutation...
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276927/ |
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pubmed-42769272014-12-30 Somatic Mosaicism in the Human Genome Freed, Donald Stevens, Eric L. Pevsner, Jonathan Review Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body and are not transmitted to progeny. These mutations affect varying genomic sizes ranging from single nucleotides to entire chromosomes and have been implicated in disease, most prominently cancer. The phenotypic consequences of somatic mosaicism are dependent upon many factors including the developmental time at which the mutation occurs, the areas of the body that are affected, and the pathophysiological effect(s) of the mutation. The advent of second-generation sequencing technologies has augmented existing array-based and cytogenetic approaches for the identification of somatic mutations. We outline the strengths and weaknesses of these techniques and highlight recent insights into the role of somatic mosaicism in causing cancer, neurodegenerative, monogenic, and complex disease. MDPI 2014-12-11 /pmc/articles/PMC4276927/ /pubmed/25513881 http://dx.doi.org/10.3390/genes5041064 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/). |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Freed, Donald Stevens, Eric L. Pevsner, Jonathan |
| spellingShingle |
Freed, Donald Stevens, Eric L. Pevsner, Jonathan Somatic Mosaicism in the Human Genome |
| author_facet |
Freed, Donald Stevens, Eric L. Pevsner, Jonathan |
| author_sort |
Freed, Donald |
| title |
Somatic Mosaicism in the Human Genome |
| title_short |
Somatic Mosaicism in the Human Genome |
| title_full |
Somatic Mosaicism in the Human Genome |
| title_fullStr |
Somatic Mosaicism in the Human Genome |
| title_full_unstemmed |
Somatic Mosaicism in the Human Genome |
| title_sort |
somatic mosaicism in the human genome |
| description |
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body and are not transmitted to progeny. These mutations affect varying genomic sizes ranging from single nucleotides to entire chromosomes and have been implicated in disease, most prominently cancer. The phenotypic consequences of somatic mosaicism are dependent upon many factors including the developmental time at which the mutation occurs, the areas of the body that are affected, and the pathophysiological effect(s) of the mutation. The advent of second-generation sequencing technologies has augmented existing array-based and cytogenetic approaches for the identification of somatic mutations. We outline the strengths and weaknesses of these techniques and highlight recent insights into the role of somatic mosaicism in causing cancer, neurodegenerative, monogenic, and complex disease. |
| publisher |
MDPI |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276927/ |
| _version_ |
1613170768278978560 |