Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene
Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene
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DOI：
10.1016/s0378-1119(00)00023-8
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发表时间：
2000-03-21
期刊：
影响因子：
3.5
通讯作者：
Pittler, SJ
中科院分区：
文献类型：
--
作者：
Ardell, MD;Bedsole, DL;Pittler, SJ
我们以前报道过CNGB 1基因编码的视杆细胞cGMP门控通道β亚基是复杂的。包含产生至少六种转录物的非重叠转录单位（Ardell，M.D.，阿拉贡岛奥利维拉湖Porche，GE，Burke，E.，Pittler，S.J.，1996.人视杆细胞cGMP门控阳离子通道的β亚基由复杂的转录单位产生。FEBS Lett. 389，213-218）。为了进一步了解这个非常复杂的基因座的转录调控，并在遗传性疾病患者中筛选基因缺陷，我们确定了其基因组结构和DNA序列。CNGB 1基因座由33个外显子组成，其跨越16号染色体上约100 kb的基因组DNA。β-亚基包含两个结构域，N-末端谷氨酸富集区段（GARP）和C-末端通道样部分。另外两个外显子编码一个短的GARP转录本和一个截短的通道样转录本已被确定。一个主要的转录起始点被确定为79 bp上游的启动子ATG。为了开始分析产生多种转录物的基础，并鉴定驱动视网膜中表达的启动子，对大约2.5 kb的上游区域进行测序。推定的顺式元件，可以结合视网膜特异性转录因子Crx和Erx，被发现的转录起始点的上游，并可能是重要的基因表达在这个组织。从我们的分析，一个模型被报道占至少四个视网膜成绩单。(C)2000 Elsevier Science B. V.保留所有权利。
We previously reported that the CNGB1 locus encoding the rod photoreceptor cGMP-gated channel beta-subunit is complex. comprising non-overlapping transcription units that give rise to at least six transcripts (Ardell, M.D., Aragon, I., Oliveira, L., Porche, G.E., Burke, E., Pittler, S.J., 1996. The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit. FEBS Lett. 389, 213-218). To further understand the transcriptional regulation of this extraordinarily complex locus, and to develop a screen for defects in the gene in patients with hereditary disease, we determined its genomic organization and DNA sequence. The CNGB1 locus consists of 33 exons, which span approximately 100 kb of genomic DNA on chromosome 16. The beta-subunit comprises two domains, an N-terminal glulamic acid-rich segment (GARP), and a C-terminal channel-like portion. Two additional exons encoding a short GARP transcript and a truncated channel-like transcript have been identified. A major transcription start point was identified 79 bp upstream of the initiator ATG. To begin analysis of the basis for the generation of multiple transcripts, and to identify promoters driving expression in retina, approximately 2.5 kb of the upstream region were sequenced. Putative cis-elements, which can bind the retina-specific transcription factors Crx and Erx, were found immediately upstream of the transcription start point, and may be important for gene expression in this tissue. From our analysis, a model is reported to account for at least four of the retinal transcripts. (C) 2000 Elsevier Science B.V. All rights reserved.