LOCALIZATION OF A RETROVIRAL ELEMENT WITHIN THE RD GENE CODING FOR THE BETA-SUBUNIT OF CGMP PHOSPHODIESTERASE
LOCALIZATION OF A RETROVIRAL ELEMENT WITHIN THE RD GENE CODING FOR THE BETA-SUBUNIT OF CGMP PHOSPHODIESTERASE
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DOI：
10.1073/pnas.90.7.2955
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发表时间：
1993-04-01
影响因子：
11.1
通讯作者：
FARBER, DB
中科院分区：
文献类型：
--
作者：
BOWES, C;LI, TS;FARBER, DB
RD小鼠的视网膜变性是一种常染色体隐性遗传特征，由编码cGMP磷酸二酯酶β亚基的基因缺陷引起。最近，通过对重组近交系小鼠进行连锁分析，发现RD基因与内源性异嗜性小鼠白血病病毒(XMV-28)有密切的遗传关联。在这项研究中，基因组DNA作图和序列分析阐明了前病毒序列与RD基因的位置。我们发现Xmv-28前病毒整合到RD基因的内含子I中，位于外显子-内含子边界的下游。前病毒的转录方向与cGMP磷酸二酯酶β亚基基因的转录方向相反。逆转录-聚合酶链式反应证明整合的Xmv-28序列在视网膜中转录。在所测试的每一种RD小鼠中都存在前病毒。
Retinal degeneration in the rd mouse is inherited as an autosomal recessive trait and is caused by a defect in the gene encoding the beta subunit of cGMP phosphodiesterase. Recently, a close genetic association of the rd gene with an endogenous xenotropic murine leukemia virus (Xmv-28) was established by linkage analysis using recombinant inbred strains of mice. In this study, genomic DNA mapping and sequence analyses clarify the position of the proviral sequences in relation to the rd gene. We rind that the Xmv-28 provirus is integrated into intron I of the rd gene 1511 bp downstream of the exon-intron boundary. The transcriptional orientation of the provirus is opposite to that of the gene for the beta subunit of cGMP phosphodiesterase. Reverse transcription-PCR demonstrates that the integrated Xmv-28 sequences are transcribed in the retina. The provirus is present in every strain of rd mouse tested.