Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.
Genes Dev. 2011 Jan 1;25(1):1-10. doi: 10.1101/gad.1968411.
The first wave of personal genomes documents how no single individual genome contains the full complement of functional genes. Here, we describe the extent of variation in gene and pseudogene numbers between individuals arising from inactivation events such as premature termination or aberrant splicing due to single-nucleotide polymorphisms. This highlights the inadequacy of the current reference sequence and gene set. We present a proposal to define a reference gene set that will remain stable as more individuals are sequenced. In particular, we recommend that the ancestral allele be used to define the reference sequence from which a core human reference gene annotation set can be derived. In addition, we call for the development of an expanded gene set to include human-specific genes that have arisen recently and are absent from the ancestral set.
人类个体基因组的首批研究资料表明，没有任何一个个体的基因组包含了所有的功能基因。在这里，我们描述了由于单核苷酸多态性导致的提前终止或异常剪接等失活事件，个体间基因和假基因数量的变化程度。这凸显了当前参考序列和基因集的不完整性。我们提出了一个建议，即定义一个参考基因集，随着更多个体的测序，该基因集将保持稳定。具体来说，我们建议使用祖先等位基因来定义参考序列，从而可以从中衍生出核心人类参考基因注释集。此外，我们呼吁开发一个扩展的基因集，其中包括最近出现且不在祖先集中的人类特异性基因。
