Department of Biology, Zoology and Evolutionary Biology, University of Konstanz, Konstanz, Germany.
Zukunftskolleg, University of Konstanz, Konstanz, Germany.
Pigment Cell Melanoma Res. 2019 Sep;32(5):719-723. doi: 10.1111/pcmr.12799. Epub 2019 Jun 12.
The tropical freshwater fish family Cichlidae is famous for its record-breaking rates of speciation and diversity in colors and color patterns. Here, we sequenced the genome of the Lake Malawi cichlid Melanochromis auratus to study the genetic basis of an amelanistic morph of this species that lacks the typical melanic stripes and markings. Genome sequencing of the amelanistic and wild-type morph revealed the loss of the second exon of the known pigmentation gene oculocutaneous albinism II (oca2), also known as p(ink-eyed dilution) gene or melanocyte-specific transporter gene. Additional genotyping confirms the complete association with this recessive Mendelian phenotype. The deletion results in a shorter transcript, lacking an acidic di-leucine domain that is crucial for trafficking of the Oca2 protein to melanosomes. The fact that oca2 is involved in a wide range of amelanistic morphs across vertebrates demonstrates its highly conserved function.
热带淡水鱼慈鲷科以其极高的物种形成率和丰富多彩的颜色和图案而闻名。在这里，我们对马拉维湖慈鲷马鲷的基因组进行了测序，以研究该物种缺乏典型黑色素条纹和标记的无黑色素形态的遗传基础。无黑色素和野生型形态的基因组测序揭示了已知色素沉着基因眼皮肤白化病 II（oca2）的第二个外显子缺失，该基因也称为 p（粉色眼稀释）基因或黑素细胞特异性转运蛋白基因。额外的基因分型证实了与这种隐性孟德尔表型的完全关联。缺失导致较短的转录本，缺乏酸性二亮氨酸结构域，该结构域对于 Oca2 蛋白向黑素体的运输至关重要。oca2 参与脊椎动物中广泛的无黑色素形态这一事实证明了它高度保守的功能。
