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Editorial
. 2017 Feb;69(2):253-256.
doi: 10.1002/art.39961.

Editorial: It Just Takes One: Somatic Mosaicism in Autoinflammatory Disease

Hal M Hoffman  1 , Lori Broderick  1
Affiliations
Editorial

Editorial: It Just Takes One: Somatic Mosaicism in Autoinflammatory Disease

Hal M Hoffman et al. Arthritis Rheumatol. 2017 Feb.
No abstract available

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Figures

Figure 1
Figure 1
Schematic of somatic mutation leading to disease phenotype. In the left panel, a mutation in a paternal or maternal germline cell (either inherited or de novo) leads to a zygote and then an adult in which all cells carry the mutation. In the right panel, a mutation at a later stage in development (whether in utero or after birth and into adulthood) leads to the presence of the mutation in only a portion of cells or tissues. Stars indicate the occurrence of genetic mutations, and affected cells filled with similar color demonstrate the passage of the mutation through subsequent daughter cells.
Figure 2
Figure 2
A, Example of Sanger sequencing demonstrating overlapping signal peaks with a heterozygous or high frequency somatic mosaic variant. The double peak (blue and green) at the 8th base pair indicates an A to C variant. A low-frequency somatic mosaic mutation may have a low signal peak and therefore may not be easily visualized or detected by analysis software as it is difficult to distinguish from background peaks. B, Next-generation sequencing demonstrating that half of the short sequencing reads (gray bars) have a C, rather than A at the 8th position, compared to the reference sequence. A low frequency somatic mosaic variant may not be identified unless more reads are included (deep sequencing).
See this image and copyright information in PMC

Comment on

References

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