Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12656-61. doi: 10.1073/pnas.1205199109. Epub 2012 Jul 13.
Gene expression differences are shaped by selective pressures and contribute to phenotypic differences between species. We identified 964 copy number differences (CNDs) of conserved sequences across three primate species and examined their potential effects on gene expression profiles. Samples with copy number different genes had significantly different expression than samples with neutral copy number. Genes encoding regulatory molecules differed in copy number and were associated with significant expression differences. Additionally, we identified 127 CNDs that were processed pseudogenes and some of which were expressed. Furthermore, there were copy number-different regulatory regions such as ultraconserved elements and long intergenic noncoding RNAs with the potential to affect expression. We postulate that CNDs of these conserved sequences fine-tune developmental pathways by altering the levels of RNA.
基因表达的差异是由选择压力形成的，并导致了物种之间表型的差异。我们在三个灵长类物种中鉴定了 964 个保守序列的拷贝数差异（CND），并研究了它们对基因表达谱的潜在影响。具有拷贝数不同基因的样本的表达与具有中性拷贝数的样本有显著差异。编码调控分子的基因在拷贝数上存在差异，与显著的表达差异相关。此外，我们还鉴定了 127 个 CND 是加工假基因，其中一些基因表达。此外，还有一些调控区如超保守元件和长基因间非编码 RNA 的拷贝数不同，有可能影响表达。我们推测，这些保守序列的 CND 通过改变 RNA 的水平来微调发育途径。
