FBN1
Overview
FBN1 encodes fibrillin-1, a large extracellular matrix glycoprotein that is a major component of microfibrils. In cancer genomics, FBN1 mutations cause Marfan syndrome; in normal melanocyte biology, FBN1 is expressed by the low-mutation-burden, stem-like melanocyte subpopulation with a neural-crest transcriptional signature.
Alterations observed in the corpus
- FBN1 was identified as a LowMut (low-UV-mutation-burden) melanocyte transcriptomic marker in a joint DNA/RNA single-cell profiling study of 297 melanocytes from 58 skin biopsies across 31 donors. LowMut cells — which overexpress FBN1, DAAM2, VCAN, SEMA3C, and other neural-crest genes — were enriched in hair follicles by 10X Xenium spatial transcriptomics, consistent with a melanocyte stem cell (MSC) identity and UV-protected niche PMID:39975212.
- FBN1 was also cited as a lineage-confirmation marker at the connective-tissue gene level, distinguishing the LowMut neural-crest-like state from the HighMut differentiated/pigmentation state PMID:39975212.
Cancer types (linked)
- Normal skin / MEL adjacent — FBN1 defines the LowMut stem-like melanocyte compartment enriched in hair follicles; no somatic driver mutations in FBN1 were identified; study was a normal-tissue cell atlas PMID:39975212.
Co-occurrence and mutual exclusivity
Therapeutic relevance
- Not directly targeted therapeutically; relevant to melanoma origin biology and the concept of a UV-protected stem-cell reservoir in the hair follicle.
Open questions
- Whether FBN1-high melanocyte stem cells contribute to melanoma initiation following UV-driven clonal expansion is not directly tested in this study.
Sources
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