Goode Debbie K, Snell Philip, Smith Sarah F, Cooke Julie E, Elgar Greg
Comparative Genomics Group, MRC Rosalind Franklin Centre for Genomics Research, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SB, UK.
Genomics. 2005 Aug;86(2):172-81. doi: 10.1016/j.ygeno.2005.04.006.
Comparative genomic analysis reveals an exceptionally large section of conserved shared synteny between the human 7q36 chromosomal region and the pufferfish (Fugu rubripes) genome. Remarkably, this conservation extends not only to gene order across 16 genes, but also to the position and orientation of a number of prominent conserved noncoding elements (CNEs). A functional assay using zebrafish has shown that most of the CNEs have reproducible and specific enhancer activity. This enhancer activity is often detected in a subset of tissues which reflect the endogenous expression pattern of a proximal gene, though some CNEs may act over a long range. We propose that the distribution of CNEs, and their probable association with a number of genes throughout the region, imposes a critical constraint on genome architecture, resulting in the maintenance of such a large section of conserved synteny across the vertebrate lineage.
比较基因组分析揭示，人类7号染色体36区（7q36）与河豚（红鳍东方鲀）基因组之间存在一段异常大的保守共线性区域。值得注意的是，这种保守性不仅延伸至16个基因的基因顺序，还涉及许多显著的保守非编码元件（CNE）的位置和方向。一项使用斑马鱼的功能分析表明，大多数CNE具有可重复的特异性增强子活性。这种增强子活性通常在反映近端基因内源性表达模式的一部分组织中检测到，尽管一些CNE可能在远距离发挥作用。我们提出，CNE的分布及其与该区域多个基因可能存在的关联，对基因组结构施加了关键限制，从而导致在整个脊椎动物谱系中维持如此大的一段保守共线性。
