Piebaldism and chromatophore development in reptiles are linked to the tfec gene
Piebaldism and chromatophore development in reptiles are linked to the tfec gene
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DOI：
10.1016/j.cub.2023.01.004
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发表时间：
2023-02-27
期刊：
影响因子：
9.2
通讯作者：
Barrett，Rowan D. H.
中科院分区：
文献类型：
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作者：
Garcia-Elfring，Alan;Sabin，Christina E.;Barrett，Rowan D. H.
爬行动物在颜色和图案上表现出巨大的多样性，但我们对脊椎动物颜色的了解大部分来自经典模式物种，如老鼠和斑马鱼。1,2,3,4圈养的球蟒 (Python regius) 表现出显着程度的颜色和图案变化。尽管宠物贸易中存在多种孟德尔颜色表型，但球蟒在色素沉着研究中仍然是一个被忽视的物种。在这里，我们研究了隐性花斑表型的遗传基础，这是一种以无色素皮肤斑块（白斑）为特征的模式缺陷。我们进行了全基因组测序，并使用病例对照方法发现了编码转录因子 tfec 的基因中的无义突变，表明该基因与球蟒的白细胞斑块有关。我们使用基因编辑 CRISPR/Cas9 系统和皮肤 TEM 成像对蜥蜴模型 (Anolis sagrei) 进行功能验证。我们的研究结果表明，阅读框突变会影响变色并导致安乐蜥的虹彩细胞丢失，这表明色素细胞发育所需。这项研究强调了圈养球蟒作为模型物种的价值，有助于加速脊椎动物颜色遗传基础的发现。
Reptiles display great diversity in color and pattern, yet much of what we know about vertebrate coloration comes from classic model species such as the mouse and zebrafish.1,2,3,4Captive-bred ball pythons (Python regius) exhibit a remarkable degree of color and pattern variation. Despite the wide range of Mendelian color phenotypes available in the pet trade, ball pythons remain an overlooked species in pigmentation research. Here, we investigate the genetic basis of the recessive piebald phenotype, a pattern defect characterized by patches of unpigmented skin (leucoderma). We performed whole-genome sequencing and used a case-control approach to discover a nonsense mutation in the gene encoding the transcription factortfec, implicating this gene in the leucodermic patches in ball pythons. We functionally validatedtfecin a lizard model (Anolis sagrei) using the gene editing CRISPR/Cas9 system and TEM imaging of skin. Our findings show that reading frame mutations intfecaffect coloration and lead to a loss of iridophores in Anolis, indicating thattfecis required for chromatophore development. This study highlights the value of captive-bred ball pythons as a model species for accelerating discoveries on the genetic basis of vertebrate coloration.