A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius)

Author:

Lederer Izabella,Shahid Basmah,Dao Uyen M.,Brogdon Alex,Byrtus Hannah,Delva Marcelin,Deva Orson,Hatfield Paige,Hertz Mikayla,Justice Jenna,Mavor Sarah,Pilbeam Erin,Rice Zoe,Simpson Abbey,Temar Hallie,Wynn Richard,Xhangolli Joana,Graves Chiron W.,Seidel Hannah S.

Abstract

AbstractMelanophilin 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.

Publisher

Cold Spring Harbor Laboratory

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