The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, 350 Community Drive, NY 11030, USA.
J Theor Biol. 2011 Nov 7;288:92-104. doi: 10.1016/j.jtbi.2011.07.021. Epub 2011 Aug 3.
There are mathematical constants that describe universal relationship between variables, and physical/chemical constants that are invariant measurements of physical quantities. In a similar spirit, we have collected a set of parameters that characterize the human genome. Some parameters have a constant value for everybody's genome, others vary within a limited range. The following nine human genome parameters are discussed here, number of bases (genome size), number of chromosomes (karyotype), number of protein-coding gene loci, number of transcription factors, guanine-cytosine (GC) content, number of GC-rich gene-rich isochores, density of polymorphic sites, number of newly generated deleterious mutations in one generation, and number of meiotic crossovers. Comparative genomics and theoretical predictions of some parameters are discussed and reviewed. This collection only represents a beginning of compiling a more comprehensive list of human genome parameters, and knowing these parameter values is an important part in understanding human evolution.
存在描述变量之间普遍关系的数学常数,以及作为物理量不变测量值的物理/化学常数。本着类似的精神,我们收集了一组描述人类基因组的参数。有些参数对于每个人的基因组来说具有恒定值,而其他参数则在有限范围内变化。以下讨论了九个人类基因组参数,即碱基数量(基因组大小)、染色体数量(核型)、编码蛋白的基因座数量、转录因子数量、鸟嘌呤-胞嘧啶(GC)含量、富含 GC 的基因丰富同型物数量、多态性位点密度、一代人中新产生的有害突变数量以及减数分裂交叉数量。本文还讨论和回顾了一些参数的比较基因组学和理论预测。本研究仅代表编译更全面的人类基因组参数列表的开始,了解这些参数值是理解人类进化的重要组成部分。