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DNaseI 超敏性和超保守性揭示了 Pax6 顺式调控区复杂结构中新型、相互依存的长程增强子。

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.

机构信息

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

出版信息

PLoS One. 2011;6(12):e28616. doi: 10.1371/journal.pone.0028616. Epub 2011 Dec 29.

Abstract

The PAX6 gene plays a crucial role in development of the eye, brain, olfactory system and endocrine pancreas. Consistent with its pleiotropic role the gene exhibits a complex developmental expression pattern which is subject to strict spatial, temporal and quantitative regulation. Control of expression depends on a large array of cis-elements residing in an extended genomic domain around the coding region of the gene. The minimal essential region required for proper regulation of this complex locus has been defined through analysis of human aniridia-associated breakpoints and YAC transgenic rescue studies of the mouse smalleye mutant. We have carried out a systematic DNase I hypersensitive site (HS) analysis across 200 kb of this critical region of mouse chromosome 2E3 to identify putative regulatory elements. Mapping the identified HSs onto a percent identity plot (PIP) shows many HSs correspond to recognisable genomic features such as evolutionarily conserved sequences, CpG islands and retrotransposon derived repeats. We then focussed on a region previously shown to contain essential long range cis-regulatory information, the Pax6 downstream regulatory region (DRR), allowing comparison of mouse HS data with previous human HS data for this region. Reporter transgenic mice for two of the HS sites, HS5 and HS6, show that they function as tissue specific regulatory elements. In addition we have characterised enhancer activity of an ultra-conserved cis-regulatory region located near Pax6, termed E60. All three cis-elements exhibit multiple spatio-temporal activities in the embryo that overlap between themselves and other elements in the locus. Using a deletion set of YAC reporter transgenic mice we demonstrate functional interdependence of the elements. Finally, we use the HS6 enhancer as a marker for the migration of precerebellar neuro-epithelium cells to the hindbrain precerebellar nuclei along the posterior and anterior extramural streams allowing visualisation of migratory defects in both pathways in Pax6(Sey/Sey) mice.

摘要

PAX6 基因在眼睛、大脑、嗅觉系统和内分泌胰腺的发育中起着至关重要的作用。与其多效性作用一致,该基因表现出复杂的发育表达模式,受到严格的空间、时间和定量调节。表达的控制取决于位于基因编码区周围扩展基因组域内的大量顺式元件。通过分析人类无虹膜相关断点和小鼠 smalleye 突变体的 YAC 转基因拯救研究,已经定义了适当调节这个复杂基因座所需的最小必需区域。我们在小鼠染色体 2E3 的这个关键区域的 200kb 范围内进行了系统的 DNase I 超敏位点 (HS) 分析,以鉴定潜在的调节元件。将鉴定的 HS 映射到百分比身份图 (PIP) 上,显示许多 HS 对应于可识别的基因组特征,如进化保守序列、CpG 岛和逆转录转座子衍生的重复序列。然后,我们专注于一个先前显示包含必需的长程顺式调控信息的区域,即 Pax6 下游调控区 (DRR),允许将鼠标 HS 数据与该区域的先前人类 HS 数据进行比较。两个 HS 位点 HS5 和 HS6 的报告基因转基因小鼠表明它们作为组织特异性调节元件发挥作用。此外,我们还对位于 Pax6 附近的一个超保守顺式调控区 E60 的增强子活性进行了表征。三个顺式元件在胚胎中都表现出多种时空活性,彼此之间以及与基因座中的其他元件重叠。使用一系列 YAC 报告基因转基因小鼠的缺失集,我们证明了元件之间的功能相互依赖性。最后,我们使用 HS6 增强子作为小脑前神经上皮细胞向小脑前核沿后外侧和前外侧外胚层流迁移的标记,允许可视化 Pax6(Sey/Sey) 小鼠中两条途径的迁移缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2d/3248410/d49cf6ee2336/pone.0028616.g001.jpg

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