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为亚氏提灯照亮基因组之光。

Shedding genomic light on Aristotle's lantern.

作者信息

Sodergren Erica, Shen Yufeng, Song Xingzhi, Zhang Lan, Gibbs Richard A, Weinstock George M

机构信息

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Alkek N1519, Houston, TX 77030, USA.

出版信息

Dev Biol. 2006 Dec 1;300(1):2-8. doi: 10.1016/j.ydbio.2006.10.005. Epub 2006 Oct 10.

Abstract

Sea urchins have proved fascinating to biologists since the time of Aristotle who compared the appearance of their bony mouth structure to a lantern in The History of Animals. Throughout modern times it has been a model system for research in developmental biology. Now, the genome of the sea urchin Strongylocentrotus purpuratus is the first echinoderm genome to be sequenced. A high quality draft sequence assembly was produced using the Atlas assembler to combine whole genome shotgun sequences with sequences from a collection of BACs selected to form a minimal tiling path along the genome. A formidable challenge was presented by the high degree of heterozygosity between the two haplotypes of the selected male representative of this marine organism. This was overcome by use of the BAC tiling path backbone, in which each BAC represents a single haplotype, as well as by improvements in the Atlas software. Another innovation introduced in this project was the sequencing of pools of tiling path BACs rather than individual BAC sequencing. The Clone-Array Pooled Shotgun Strategy greatly reduced the cost and time devoted to preparing shotgun libraries from BAC clones. The genome sequence was analyzed with several gene prediction methods to produce a comprehensive gene list that was then manually refined and annotated by a volunteer team of sea urchin experts. This latter annotation community edited over 9000 gene models and uncovered many unexpected aspects of the sea urchin genetic content impacting transcriptional regulation, immunology, sensory perception, and an organism's development. Analysis of the basic deuterostome genetic complement supports the sea urchin's role as a model system for deuterostome and, by extension, chordate development.

摘要

自亚里士多德时代起,海胆就一直令生物学家着迷,亚里士多德在《动物志》中把它们骨质口部结构的外观比作一盏灯笼。在现代,海胆一直是发育生物学研究的模式系统。如今,紫球海胆的基因组是首个被测序的棘皮动物基因组。使用阿特拉斯组装程序产生了高质量的草图序列组装,该程序将全基因组鸟枪法测序序列与从一组BACs中选取的序列相结合,这些BACs被选来沿着基因组形成最小拼接路径。对于这种海洋生物所选雄性代表的两个单倍型之间的高度杂合性,这是一个巨大的挑战。通过使用BAC拼接路径主干(其中每个BAC代表一个单倍型)以及阿特拉斯软件的改进,这一挑战得以克服。该项目引入的另一项创新是对拼接路径BACs池进行测序,而不是对单个BAC进行测序。克隆阵列混合鸟枪法策略极大地降低了从BAC克隆制备鸟枪法文库所需的成本和时间。用几种基因预测方法对基因组序列进行分析,以生成一份全面的基因列表,然后由一组海胆专家志愿者团队进行人工完善和注释。后一个注释团队编辑了9000多个基因模型,发现了海胆遗传内容在转录调控、免疫学、感官知觉和生物体发育方面许多意想不到的情况。对基本的后口动物遗传互补性的分析支持了海胆作为后口动物,进而作为脊索动物发育模式系统的作用。

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