Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, United States of America.
Department of Developmental Biology, Stanford University, Stanford, California, United States of America.
PLoS Genet. 2020 Dec 10;16(12):e1009244. doi: 10.1371/journal.pgen.1009244. eCollection 2020 Dec.
The genetic origin of human skin pigmentation remains an open question in biology. Several skin disorders and diseases originate from mutations in conserved pigmentation genes, including albinism, vitiligo, and melanoma. Teleosts possess the capacity to modify their pigmentation to adapt to their environmental background to avoid predators. This background adaptation occurs through melanosome aggregation (white background) or dispersion (black background) in melanocytes. These mechanisms are largely regulated by melanin-concentrating hormone (MCH) and α-melanocyte-stimulating hormone (α-MSH), two hypothalamic neuropeptides also involved in mammalian skin pigmentation. Despite evidence that the exogenous application of MCH peptides induces melanosome aggregation, it is not known if the MCH system is physiologically responsible for background adaptation. In zebrafish, we identify that MCH neurons target the pituitary gland-blood vessel portal and that endogenous MCH peptide expression regulates melanin concentration for background adaptation. We demonstrate that this effect is mediated by MCH receptor 2 (Mchr2) but not Mchr1a/b. mchr2 knock-out fish cannot adapt to a white background, providing the first genetic demonstration that MCH signaling is physiologically required to control skin pigmentation. mchr2 phenotype can be rescued in adult fish by knocking-out pomc, the gene coding for the precursor of α-MSH, demonstrating the relevance of the antagonistic activity between MCH and α-MSH in the control of melanosome organization. Interestingly, MCH receptor is also expressed in human melanocytes, thus a similar antagonistic activity regulating skin pigmentation may be conserved during evolution, and the dysregulation of these pathways is significant to our understanding of human skin disorders and cancers.
人类皮肤色素沉着的遗传起源仍然是生物学中的一个悬而未决的问题。几种皮肤疾病和病症源自保守色素沉着基因的突变,包括白化病、白癜风和黑色素瘤。硬骨鱼具有改变其色素沉着以适应环境背景以避免被捕食者的能力。这种背景适应通过黑色素细胞中的黑素体聚集(白色背景)或分散(黑色背景)来发生。这些机制主要受黑色素浓缩激素 (MCH) 和 α-促黑素细胞激素 (α-MSH) 调节,这两种下丘脑神经肽也参与哺乳动物皮肤色素沉着。尽管有证据表明外源性应用 MCH 肽可诱导黑素体聚集,但尚不清楚 MCH 系统是否在生理上负责背景适应。在斑马鱼中,我们确定 MCH 神经元靶向垂体-血管门,内源性 MCH 肽表达调节黑色素浓度以适应背景。我们证明这种作用是由 MCH 受体 2 (Mchr2) 介导的,而不是 Mchr1a/b。mchr2 敲除鱼不能适应白色背景,这首次提供了遗传证据,证明 MCH 信号在生理上需要控制皮肤色素沉着。在成年鱼中敲除 pomc(编码 α-MSH 前体的基因)可以挽救 mchr2 表型,证明了 MCH 和 α-MSH 之间拮抗活性在控制黑素体组织中的相关性。有趣的是,MCH 受体也在人类黑色素细胞中表达,因此,调节皮肤色素沉着的类似拮抗活性可能在进化过程中得到保守,这些途径的失调对我们理解人类皮肤疾病和癌症具有重要意义。