He Lin, Eldridge Adam G, Jackson Peter K, Gunn Teresa M, Barsh Gregory S
Departments of Pediatrics and Genetics and the Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305, USA.
Ann N Y Acad Sci. 2003 Jun;994:288-98. doi: 10.1111/j.1749-6632.2003.tb03192.x.
Switching from eumelanin to pheomelanin synthesis during hair growth is accomplished by transient synthesis of Agouti protein, an inverse agonist for the melanocortin-1 receptor (Mc1r). The coat color mutations mahogany and mahoganoid prevent hair follicle melanocytes from responding to Agouti protein. The gene mutated in mahogany, which is also known as Attractin (Atrn), encodes a type I transmembrane protein that functions as an accessory receptor for Agouti protein. We have recently determined that the gene mutated in mahoganoid, which is also known as Mahogunin (Mgrn1), encodes an E3 ubiquitin ligase. Like Attractin, Mahogunin is conserved in invertebrate genomes, and its absence causes a pleiotropic phenotype that includes spongiform neurodegeneration.
在毛发生长过程中，从真黑素合成转换为褐黑素合成是通过刺鼠蛋白的短暂合成来实现的，刺鼠蛋白是黑皮质素-1受体（Mc1r）的反向激动剂。毛色突变体“桃花心木”和“类桃花心木”可阻止毛囊黑素细胞对刺鼠蛋白作出反应。在“桃花心木”中发生突变的基因，也被称为吸引素（Atrn），编码一种I型跨膜蛋白，该蛋白作为刺鼠蛋白的辅助受体发挥作用。我们最近确定，在“类桃花心木”中发生突变的基因，也被称为大谷蛋白（Mgrn1），编码一种E3泛素连接酶。与吸引素一样，大谷蛋白在无脊椎动物基因组中保守，其缺失会导致包括海绵状神经退行性变在内的多效性表型。
