Lederer Izabella, Shahid Basmah, Dao Uyen, 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, Seidel Hannah
Eastern Michigan University.
MicroPubl Biol. 2023 Aug 9;2023. doi: 10.17912/micropub.biology.000896. eCollection 2023.
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 ( ) 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.
亲嗜素是细胞内转运色素黑色素所必需的一种肌球蛋白衔接蛋白。鱼类、鸟类和哺乳动物中亲嗜素的缺失会导致色素沉着缺陷，但对于亲嗜素在非鸟类爬行动物中的作用却知之甚少。在此我们表明，球蟒亲嗜素基因中的一个移码突变与蜕落皮肤色素缺失有关。该变异预计会去除亲嗜素的肌球蛋白结合结构域，从而损害含黑色素细胞器的转运。我们的研究首次描述了非鸟类爬行动物中的亲嗜素变异，并证实了亲嗜素在整个脊椎动物中的作用。
