Related Experiment Video
Updated: Apr 30, 2026
Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
Melanoma's high C>T mutation rate: is deamination playing a role?
Margaret I Sanchez1, James M Grichnik
1Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Melanoma mutations often show UV signatures, but deaminating enzymes like activation-induced cytidine deaminase (AID) and APOBEC3B may also drive C>T transitions, particularly in acral melanomas.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Most melanoma mutations are C>T transitions, commonly linked to UV radiation.
- Other mechanisms contributing to C>T mutations in melanoma require investigation.
Purpose of the Study:
- To explore the potential role of deaminating enzymes in melanoma development.
- To investigate the prevalence of specific mutation signatures in different melanoma subtypes.
Main Methods:
- Immunohistochemical analysis to detect deaminating enzymes (AID and APOBEC3B) in melanoma tissues.
- Comparative analysis of mutation signatures between acral melanomas and trunk/extremity melanomas.
Main Results:
- Immunohistochemical evidence identified activation-induced cytidine deaminase (AID) and apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3B (APOBEC3B) in melanoma.
- Acral melanomas exhibited a higher proportion of 'spontaneous' and 'AID' mutation signatures compared to other melanoma types.
Conclusions:
- Deaminating enzymes, AID and APOBEC3B, may play a role in melanoma genesis.
- Deamination appears to be a significant factor in the mutational landscape of acral melanomas.
Related Concept Videos
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
01:36Mismatch Repair
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:12Loss of Tumor Suppressor Gene Functions
02:23Abnormal Proliferation
01:38Nucleotide Excision Repair
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...