Centre of Reproduction, Development and Aging, Faculty of Health Sciences, University of Macau, Taipa, Macau 999078, China.
Shenzhen Key Lab of Marine Genomics, Guangdong Provincial Key Lab of Molecular Breeding in Marine Economic Animals, BGI Academy of Marine Sciences, BGI Marine, BGI, Shenzhen 518083, China.
Int J Mol Sci. 2020 Mar 30;21(7):2385. doi: 10.3390/ijms21072385.
has been a widely used transparent mutant of zebrafish. It possesses a combined loss of reflective iridophores and light-absorbing melanophores, which gives rise to its almost transparent trunk throughout larval and adult stages. Nevertheless, genomic causal mutations of this transparent phenotype are poorly defined. To identify the potential genetic basis of this fascinating morphological phenotype, we constructed genome maps by performing genome sequencing of 28 zebrafish individuals including wild-type AB strain, (), and mutants. A total of 4.3 million high-quality and high-confidence homozygous single nucleotide polymorphisms (SNPs) were detected in the present study. We also identified a 6.0-Mb linkage disequilibrium block specifically in both and that was composed of 39 functional genes, of which the gene was potentially involved in the regulation of iridophore formation and maintenance. This is the first report of high-confidence genomic mutations in the gene of and that potentially leads to defective splicing as one major molecular clue for the iridophore loss. Additionally, comparative transcriptomic analyses of skin tissues from the AB, and groups revealed detailed transcriptional changes of several core genes that may be involved in melanophore and iridophore degeneration. In summary, our updated genome and transcriptome sequencing of the and mutants provides novel genetic clues for the iridophore loss. These new genomic variation maps will offer a solid genetic basis for expanding the zebrafish mutant database and in-depth investigation into pigmentation of animals.
是一种广泛使用的透明斑马鱼突变体。它同时丧失了反射性虹彩细胞和吸收性黑色素细胞,导致其在幼鱼和成鱼阶段的身体几乎完全透明。然而,这种透明表型的基因组因果突变仍未被很好地定义。为了确定这种迷人的形态表型的潜在遗传基础,我们对 28 条包括野生型 AB 品系、()和()突变体在内的斑马鱼个体进行了基因组测序,构建了基因组图谱。在本研究中总共检测到 430 万个高质量和高可信度的纯合单核苷酸多态性(SNP)。我们还在()和()中发现了一个 6.0Mb 的连锁不平衡块,其中包含 39 个功能基因,其中基因可能参与虹彩细胞的形成和维持的调控。这是首次在()和()的基因中发现高可信度的基因组突变,这些突变可能导致剪接缺陷,这是虹彩细胞缺失的一个主要分子线索。此外,对 AB、()和()三组的皮肤组织进行比较转录组分析,揭示了几个核心基因的转录变化,这些基因可能参与黑色素细胞和虹彩细胞的退化。总之,我们对()和()突变体的基因组和转录组测序的更新提供了虹彩细胞缺失的新遗传线索。这些新的基因组变异图谱将为扩展斑马鱼突变体数据库和深入研究动物的色素沉着提供坚实的遗传基础。