Maleszka R, de Couet H G, Miklos G L
Research School of Biological Sciences, Australian National University, Canberra ACT 2600, Australia.
Proc Natl Acad Sci U S A. 1998 Mar 31;95(7):3731-6. doi: 10.1073/pnas.95.7.3731.
At what biological levels are data from single-celled organisms akin to a Rosetta stone for multicellular ones? To examine this question, we characterized a saturation-mutagenized 67-kb region of the Drosophila genome by gene deletions, transgenic rescues, phenotypic dissections, genomic and cDNA sequencing, bio-informatic analysis, reverse transcription-PCR studies, and evolutionary comparisons. Data analysis using cDNA/genomic DNA alignments and bio-informatic algorithms revealed 12 different predicted proteins, most of which are absent from bacterial databases, half of which are absent from Saccharomyces cerevisiae, and nearly all of which have relatives in Caenorhabditis elegans and Homo sapiens. Gene order is not evolutionarily conserved; the closest relatives of these genes are scattered throughout the yeast, nematode, and human genomes. Most gene expression is pleiotropic, and deletion studies reveal that a morphological phenotype is seldom observed when these genes are removed from the genome. These data pinpoint some general bottlenecks in functional genomics, and they reveal the acute emerging difficulties with data transferability above the levels of genes and proteins, especially with complex human phenotypes. At these higher levels the Rosetta stone analogy has almost no applicability. However, newer transgenic technologies in Drosophila and Mus, combined with coherency pattern analyses of gene networks, and synthetic neural modeling, offer insights into organismal function. We conclude that industrially scaled robogenomics in model organisms will have great impact if it can be realistically linked to epigenetic analyses of human variation and to phenotypic analyses of human diseases in different genetic backgrounds.
单细胞生物的数据在哪些生物学层面上类似于多细胞生物的罗塞塔石碑?为了研究这个问题,我们通过基因缺失、转基因拯救、表型剖析、基因组和cDNA测序、生物信息学分析、逆转录PCR研究以及进化比较,对果蝇基因组中一个67kb的饱和诱变区域进行了表征。使用cDNA/基因组DNA比对和生物信息学算法进行的数据分析揭示了12种不同的预测蛋白质,其中大多数在细菌数据库中不存在,一半在酿酒酵母中不存在,几乎所有这些蛋白质在秀丽隐杆线虫和智人中都有亲属。基因顺序在进化上并不保守;这些基因的最亲近亲属分散在酵母、线虫和人类基因组中。大多数基因表达是多效性的,缺失研究表明,当从基因组中去除这些基因时,很少观察到形态学表型。这些数据指出了功能基因组学中的一些普遍瓶颈,并且揭示了在基因和蛋白质水平之上数据可转移性方面新出现的严重困难,特别是对于复杂的人类表型。在这些更高水平上,罗塞塔石碑的类比几乎没有适用性。然而,果蝇和小鼠中更新的转基因技术,结合基因网络的一致性模式分析和合成神经建模,为生物体功能提供了见解。我们得出结论,如果能够实际地将其与人类变异的表观遗传学分析以及不同遗传背景下人类疾病的表型分析联系起来,那么模式生物中工业规模的机器人基因组学将产生巨大影响。