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Figure 2 | Human Genomics

Figure 2

From: Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships

Figure 2

Phenotypic modifying factors. (1) Somatic mutations can include both single nucleotide variants and structural alterations such as copy number variations that can then result in somatic and clonal mosaicism. (2) Cellular microenvironment selection pressure can work at the (i) DNA level, i.e., due to somatic mutations or (A) DNA editing; (ii) RNA level, i.e., due to (B) RNA editing, (C) interacting RNAs, or (D) epigenetic factors, etc.; or (iii) protein level, i.e., due to (E) protein-protein interactions. (3) Tissue microenvironment selection pressure can select a different protein product. Crossing arrows reflect the fact that selection can go in either direction.

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Human Genomics

ISSN: 1479-7364