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

Abstract

'Hannah Byrtus' 'Marcelin Delva' 'Orson Deva' 'Paige Hatfield' 'Mikayla Hertz' 'Jenna Justice' 'Sarah Mavor' 'Erin Pilbeam' 'Zoe Rice' 'Abbey Simpson' 'Hallie Temar' 'Richard Wynn' 'Joana Xhangolli' 'Chiron Graves' 'Hannah Seidel' 'Bruce Schnapp Dr.'] 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.