Dorsal Pigmentation and Its Association with Functional Variation in MC1R in a Lizard from Different Elevations on the Qinghai-Tibetan Plateau.
Dorsal Pigmentation and Its Association with Functional Variation in MC1R in a Lizard from Different Elevations on the Qinghai-Tibetan Plateau.
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DOI：
10.1093/gbe/evaa225
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发表时间：
2020-12-06
影响因子：
3.3
通讯作者：
Fu C
中科院分区：
文献类型：
--
作者：
Jin Y;Tong H;Shao G;Li J;Lv Y;Wo Y;Brown RP;Fu C
鉴定MC1R基因的作用为了解包括人类在内的几种生物的皮肤色素沉着变异提供了重要的见解，但这种变异的进化遗传学尚未得到很好的证实。来自低海拔组的个体显示出比来自高海拔组的个体有更深的背部色素沉着。在这些海拔上存在的气候变化被量化，低海拔表现出较高的气压、温度和湿度，但较少的风和日照。对214个个体的MC1R基因的分析显示，不同海拔地区的种内姐妹谱系在5个位点上存在氨基酸差异，其中两个位点在低海拔地区显示出不同的固定残基。支撑这些氨基酸差异的四个单核苷酸多态性中有三个是非常显著的异常值，相对于一般的MC1R群体结构，这表明了选择。与转染肤色较深的低海拔人群的MC1R等位基因相比，转染肤色较浅的高海拔人群的MC1R等位基因可使激动剂诱导的循环AMP积累减少43%，从而降低黑色素合成。高海拔等位基因导致MC1R蛋白整合到黑素细胞膜的效率较低。我们的研究发现，黑化程度的变化可以用四个或更少的MC1R替换来解释。我们建立了这些替代和黑色素合成之间的功能联系，并证明了其频率的升高相关的变化。
Identification of the role of the MC1R gene has provided major insights into variation in skin pigmentation in several organisms, including humans, but the evolutionary genetics of this variation is less well established. Variation in this gene and its relationship with degree of melanism was analyzed in one of the world’s highest-elevation lizards, Phrynocephalus theobaldi from the Qinghai–Tibetan Plateau. Individuals from the low-elevation group were shown to have darker dorsal pigmentation than individuals from a high-elevation group. The existence of climatic variation across these elevations was quantified, with lower elevations exhibiting higher air pressure, temperatures, and humidity, but less wind and insolation. Analysis of the MC1R gene in 214 individuals revealed amino acid differences at five sites between intraspecific sister lineages from different elevations, with two sites showing distinct fixed residues at low elevations. Three of the four single-nucleotide polymorphisms that underpinned these amino acid differences were highly significant outliers, relative to the generalized MC1R population structuring, suggestive of selection. Transfection of cells with an MC1R allele from a lighter high-elevation population caused a 43% reduction in agonist-induced cyclic AMP accumulation, and hence lowered melanin synthesis, relative to transfection with an allele from a darker low-elevation population. The high-elevation allele led to less efficient integration of the MC1R protein into melanocyte membranes. Our study identifies variation in the degree of melanism that can be explained by four or fewer MC1R substitutions. We establish a functional link between these substitutions and melanin synthesis and demonstrate elevation-associated shifts in their frequencies.
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影响因子：
3.7
作者：
Buades JM;Rodríguez V;Terrasa B;Pérez-Mellado V;Brown RP;Castro JA;Picornell A;Ramon MM
通讯作者：
Ramon MM
影响因子：
3.7
作者：
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通讯作者：
D'Orazio JA
影响因子：
56.9
作者：
Lalueza-Fox, Carles;Roempler, Holger;Hofreiter, Michael
通讯作者：
Hofreiter, Michael
影响因子：
3.7
作者：
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通讯作者：
Routman, Eric J.
影响因子：
5.2
作者：
Clusella-Trullas, S.;Terblanche, J. S.;Chown, S. L.
通讯作者：
Chown, S. L.