一种逆转录病毒元件在编码cGMP磷酸二酯酶β亚基的rd基因内的定位。
Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase.
作者信息
Bowes C, Li T, Frankel W N, Danciger M, Coffin J M, Applebury M L, Farber D B
机构信息
Jules Stein Eye Institute, University of California School of Medicine, Los Angeles 90024.
出版信息
Proc Natl Acad Sci U S A. 1993 Apr 1;90(7):2955-9. doi: 10.1073/pnas.90.7.2955.
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 find 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.
rd小鼠的视网膜退化作为常染色体隐性性状遗传，是由编码cGMP磷酸二酯酶β亚基的基因缺陷引起的。最近，通过使用重组近交系小鼠进行连锁分析，确定了rd基因与内源性嗜异性鼠白血病病毒（Xmv-28）之间存在紧密的遗传关联。在本研究中，基因组DNA图谱绘制和序列分析明确了前病毒序列相对于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-内含子边界下游1511 bp处。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PCR表明，整合的Xmv-28序列在视网膜中被转录。在所测试的每只rd小鼠品系中都存在该前病毒。
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