- Title
-
Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
- Authors
- Thomas, A.C., Zeng, Z., Rivière, J.B., O'Shaughnessy, R., Al-Olabi, L., St-Onge, J., Atherton, D.J., Aubert, H., Bagazgoitia, L., Barbarot, S., Bourrat, E., Chiaverini, C., Chong, W.K., Duffourd, Y., Glover, M., Groesser, L., Hadj-Rabia, S., Hamm, H., Happle, R., Mushtaq, I., Lacour, J.P., Waelchli, R., Wobser, M., Vabres, P., Patton, E.E., Kinsler, V.A.
- Source
- Full text @ J. Invest. Dermatol.
Mosaic expression of GNA11 promotes ectopic pigmentary lesions in zebrafish. (a) Images of adult zebrafish mosaic for GNA11, GNA11R183C, or GNA11Q209L expression. Large, ectopic pigmentary lesions are indicated next to white arrows. Dashed box indicates zoomed areas that show detail of pigmentary lesions. (b) Numbers of pigmentary lesions per fish expressing GNA11, GNA11R183C, or GNA11Q209L. Dark circles indicate ectopic pigmentary lesions. White circles indicate fish without pigmentary lesions. (c) Histology hematoxylin and eosin staining of a wild-type and GNA11R183C zebrafish skin at ×100 and ×400 magnification. Melanocytes are clearly visible in the dermis by the black melanin (blue arrows), frequently also in the epidermis (not shown) and in a few cases within underlying muscle (yellow arrow). |