A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius )
Document Type
Article
Publication Date
2023
Department/School
Biology
Publication Title
microPublication Biology
Abstract
Melanophilin is a myosin adaptor required for transporting the pigment melanin within cells. Loss of melanophilin in fish, birds, and mammals causes pigmentation defects, but little is known about the role of melanophilin in non-avian reptiles. Here we show that a frameshift in the melanophilin gene in ball python ( P. regius ) is associated with loss of pigment from shed skin. This variant is predicted to remove the myosin-binding domain of melanophilin and thereby impair transport of melanin-containing organelles. Our study represents the first description of a melanophilin variant in a non-avian reptile and confirms the role of melanophilin across vertebrates.
Link to Published Version
Recommended Citation
Lederer, I., Shahid, B., Dao, U., Brogdon, A., Byrtus, H., Delva, M., Deva, O., Hatfield, P., Hertz, M., Justice, J., Mavor, S., Pilbeam, E., Rice, Z., Simpson, A., Temar, H., Wynn, R., Xhangolli, J., Graves, C., & Seidel, H. (2023). A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius ). microPublication Biology, 2023, 10.17912/micropub.biology.000896. https://doi.org/10.17912/micropub.biology.000896
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