Doolittle Russell F, Jiang Yong, Nand Justin
Department of Chemistry & Biochemistry, University of California, San Diego, La Jolla, CA 92093-0314, USA.
J Mol Evol. 2008 Feb;66(2):185-96. doi: 10.1007/s00239-008-9074-8. Epub 2008 Feb 19.
Mammalian blood clotting involves numerous components, most of which are the result of gene duplications that occurred early in vertebrate evolution and after the divergence of protochordates. As such, the genomes of the jawless fish (hagfish and lamprey) offer the best possibility for finding systems that might have a reduced set of the many clotting factors observed in higher vertebrates. The most straightforward way of inventorying these factors may be through whole genome sequencing. In this regard, the NCBI Trace database ( http://www.ncbi.nlm.nih.gov/Traces/trace.cgi ) for the lamprey (Petromyzon marinus) contains more than 18 million raw DNA sequences determined by whole-genome shotgun methodology. The data are estimated to be about sixfold redundant, indicating that coverage is sufficiently complete to permit judgments about the presence or absence of particular genes. A search for 20 proteins whose sequences were determined prior to the trace database study found all 20. A subsequent search for specified coagulation factors revealed a lamprey system with a smaller number of components than is found in other vertebrates in that factors V and VIII seem to be represented by a single gene, and factor IX, which is ordinarily a cofactor of factor VIII, is not present. Fortuitously, after the completion of the survey of the Trace database, a draft assembly based on the same database was posted. The draft assembly allowed many of the identified Trace fragments to be linked into longer sequences that fully support the conclusion that lampreys have a simpler clotting scheme compared with other vertebrates. The data are also consistent with the hypothesis that a whole-genome duplication or other large scale block duplication occurred after the divergence of jawless fish from other vertebrates and allowed the simultaneous appearance of a second set of two functionally paired proteins in the vertebrate clotting scheme.
哺乳动物的血液凝固涉及众多成分,其中大多数是脊椎动物早期进化过程中以及原索动物分化之后发生的基因复制的结果。因此,无颌鱼类(盲鳗和七鳃鳗)的基因组为寻找可能具有比高等脊椎动物中观察到的多种凝血因子数量更少的系统提供了最佳可能性。清点这些因子最直接的方法可能是通过全基因组测序。在这方面,七鳃鳗(海七鳃鳗)的NCBI Trace数据库(http://www.ncbi.nlm.nih.gov/Traces/trace.cgi)包含超过1800万个通过全基因组鸟枪法测定的原始DNA序列。据估计,这些数据约有六倍冗余,表明覆盖范围足够完整,能够判断特定基因的存在与否。对20种在Trace数据库研究之前其序列已确定的蛋白质进行搜索,找到了所有20种。随后对特定凝血因子的搜索揭示了一种七鳃鳗系统,其成分数量比其他脊椎动物中的要少,因为因子V和VIII似乎由单个基因代表,而通常作为因子VIII辅因子的因子IX不存在。幸运的是,在完成对Trace数据库的调查之后,基于同一数据库的草图组装发布了。该草图组装使得许多已识别的Trace片段能够连接成更长的序列,充分支持了七鳃鳗与其他脊椎动物相比具有更简单凝血方案的结论。这些数据也与以下假设一致:在无颌鱼类与其他脊椎动物分化之后发生了全基因组复制或其他大规模的区段复制,并且使得脊椎动物凝血方案中同时出现了第二组两个功能配对的蛋白质。