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The Genetics and Evolution of Eye Color in Domestic Pigeons (Columba livia)
bioRxiv - Genetics Pub Date : 2021-01-08 , DOI: 10.1101/2020.10.25.340760
Si Si , Xiao Xu , Yan Zhuang , Xiaodong Gao , Honghai Zhang , Zhengting Zou , Shu-Jin Luo

The avian eye color, generally referred to the color of the iris, results from both pigments and structural coloration. Avian iris colors exhibit striking interspecific and, in some domestic species, intraspecific variations, suggesting unique evolutionary and ecological histories. Here we tackled the genetic basis of the pearl (white) iris color in domestic pigeons (Columba livia), to elucidate the largely unknown genetic mechanism underlying the evolution of avian iris coloration. Using a genome-wide association study (GWAS) in 92 pigeons, we mapped the pearl iris trait to a 9 kb region and a facilitative glucose transporter gene SLC2A11B. A nonsense mutation W49X leading to a premature stop codon in SLC2A11B was identified as the causal variant. Transcriptome analysis suggested that SLC2A11B loss-of-function may downregulate the xanthophore-differentiation gene CSF1R, and a key gene GCH1 involved in biosynthesis of pteridine, whose absence results in pearl iris. Coalescence and phylogenetic analyses indicated the mutation originated about 5,400 years ago coinciding with the onset of pigeon domestication, while positive selection was detected likely associated with artificial breeding. Within Aves, potentially impaired SLC2A11B was found in 10 species from six distinct lineages correlated to their signature brown or blue eyes. Analysis of vertebrate SLC2A11B orthologs revealed relaxed selection in the avian clade, consistent with the scenario that, during and after avian divergence from reptile ancestor, the SLC2A11B-involved development of dermal chromatophores likely degenerated due to feather coverage. Our findings provide new insight into the mechanism of avian iris color variations and the evolution of pigmentation in vertebrates.

中文翻译:

家鸽(Columba livia)眼色的遗传和进化

禽眼的颜色,通常指虹膜的颜色,是由色素和结构着色共同产生的。禽虹膜颜色表现出惊人的种间差异,在某些驯养物种中还表现出种内差异,暗示着独特的进化史和生态史。在这里,我们探讨了家鸽(Columba livia)中珍珠(白色)虹膜颜色的遗传基础,以阐明禽类虹膜着色发展的很大程度上未知的遗传机制。通过对92羽鸽子进行全基因组关联研究(GWAS),我们将珍珠虹膜特征定位到9 kb区域和一个促进性葡萄糖转运蛋白基因SLC2A11B。导致SLC2A11B中导致提前终止密码子的无意义突变W49X被鉴定为原因变异。转录组分析表明SLC2A11B的功能丧失可能下调了黄体细胞分化基因CSF1R和一个关键基因GCH1参与蝶啶的生物合成,其缺失导致珍珠虹膜。聚结和系统发育分析表明,该突变起源于约5400年前,与鸽子驯养的发生相吻合,而检测到的阳性选择可能与人工育种有关。在Aves内,从六个独特谱系的10个物种中发现了潜在受损的SLC2A11B,它们与它们的招牌棕色或蓝色眼睛相关。对脊椎动物SLC2A11B直系同源物的分析显示,鸟类进化支中的选择放松,这与以下情况一致:在与爬行动物祖先的鸟类分化过程中和之后,SLC2A11B参与的皮肤色谱的发育可能是由于羽毛覆盖而导致的。
更新日期:2021-01-10
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