Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an amelanistic morph
Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an amelanistic morph
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DOI：
10.1111/pcmr.12799
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发表时间：
2019-09-01
影响因子：
4.3
通讯作者：
Meyer, Axel
中科院分区：
文献类型：
--
作者：
Kratochwil, Claudius F.;Urban, Sabine;Meyer, Axel
热带淡水鱼科丽鱼科以其破纪录的物种形成率以及颜色和颜色图案的多样性而闻名。在这里，我们对马拉维湖慈鲷 Melanochromis auratus 的基因组进行了测序，以研究该物种缺乏典型黑色条纹和标记的无黑色变体的遗传基础。对无色素和野生型变体的基因组测序显示，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（墨眼稀释）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。该缺失导致转录本较短，缺乏酸性二亮氨酸结构域，而该结构域对于 Oca2 蛋白向黑素体的运输至关重要。事实上，oca2 参与脊椎动物的多种无色变体，这一事实证明了其高度保守的功能。
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.