CFTR基因中的多个潜在基因内调控元件。

Multiple potential intragenic regulatory elements in the CFTR gene.

作者信息

Smith D J, Nuthall H N, Majetti M E, Harris A

机构信息

Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford University, Oxford, OX3 9DS, United Kingdom.

出版信息

Genomics. 2000 Feb 15;64(1):90-6. doi: 10.1006/geno.1999.6086.

DOI:10.1006/geno.1999.6086

PMID:10708521

Abstract

The CFTR gene exhibits a complex pattern of expression that shows temporal and spatial regulation though the control mechanisms have not been fully elucidated. We have mapped DNase I hypersensitive sites (DHS) flanking the CFTR gene to identify potential regulatory elements. We previously characterized DHS at -79.5 and -20.9 kb with respect to the CFTR translational start site, DHS 3' to the gene at 4574 + 5.4-7.4 and 4574 + 15.6 kb, and a regulatory element in the first intron of the gene at 185 + 10 kb. We generated a cosmid contig to provide probes to evaluate the whole of the CFTR gene for DHS and have now mapped novel sites in introns 2, 3, 10, 16, 17a, 18, 20, and 21. These DHS show different patterns of cell-specific expression.

摘要

CFTR基因呈现出复杂的表达模式，尽管其调控机制尚未完全阐明，但该模式表现出时间和空间调控。我们已绘制了CFTR基因侧翼的DNA酶I超敏位点（DHS），以识别潜在的调控元件。我们之前已对相对于CFTR翻译起始位点位于-79.5和-20.9 kb处的DHS、基因3'端位于4574 + 5.4 - 7.4和4574 + 15.6 kb处的DHS，以及基因第一个内含子中位于185 + 10 kb处的调控元件进行了表征。我们构建了一个黏粒重叠群，以提供探针来评估整个CFTR基因的DHS，并且现在已在第2、3、10、16、17a、18、20和21号内含子中绘制了新的位点。这些DHS表现出不同的细胞特异性表达模式。