Fuentes Ricardo, Letelier Joaquín, Tajer Benjamin, Valdivia Leonardo E, Mullins Mary C
Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Centro Andaluz de Biología del Desarrollo (CSIC/UPO/JA), Seville, Spain; Center for Integrative Biology, Facultad de Ciencias, Universidad Mayor, Santiago, Chile.
Mech Dev. 2018 Dec;154:296-308. doi: 10.1016/j.mod.2018.08.007. Epub 2018 Aug 18.
Understanding how the genome instructs the phenotypic characteristics of an organism is one of the major scientific endeavors of our time. Advances in genetics have progressively deciphered the inheritance, identity and biological relevance of genetically encoded information, contributing to the rise of several, complementary omic disciplines. One of them is phenomics, an emergent area of biology dedicated to the systematic multi-scale analysis of phenotypic traits. This discipline provides valuable gene function information to the rapidly evolving field of genetics. Current molecular tools enable genome-wide analyses that link gene sequence to function in multi-cellular organisms, illuminating the genome-phenome relationship. Among vertebrates, zebrafish has emerged as an outstanding model organism for high-throughput phenotyping and modeling of human disorders. Advances in both systematic mutagenesis and phenotypic analyses of embryonic and post-embryonic stages in zebrafish have revealed the function of a valuable collection of genes and the general structure of several complex traits. In this review, we summarize multiple large-scale genetic efforts addressing parental, embryonic, and adult phenotyping in the zebrafish. The genetic and quantitative tools available in the zebrafish model, coupled with the broad spectrum of phenotypes that can be assayed, make it a powerful model for phenomics, well suited for the dissection of genotype-phenotype associations in development, physiology, health and disease.
理解基因组如何指导生物体的表型特征是我们这个时代的主要科学努力之一。遗传学的进展逐步破译了遗传编码信息的遗传、特性及生物学相关性，推动了多个互补的组学学科的兴起。其中之一是表型组学，这是一个新兴的生物学领域，致力于对表型性状进行系统的多尺度分析。该学科为快速发展的遗传学领域提供了有价值的基因功能信息。当前的分子工具能够在多细胞生物体中进行全基因组分析，将基因序列与功能联系起来，阐明基因组与表型组的关系。在脊椎动物中，斑马鱼已成为用于高通量表型分析和人类疾病建模的杰出模式生物。斑马鱼胚胎期和胚后期系统诱变及表型分析的进展揭示了大量有价值基因的功能以及几种复杂性状的总体结构。在本综述中，我们总结了针对斑马鱼亲代、胚胎和成体表型分析的多项大规模遗传学研究。斑马鱼模型中可用的遗传和定量工具，加上可以检测的广泛表型谱，使其成为表型组学的强大模型，非常适合剖析发育、生理、健康和疾病中的基因型-表型关联。
