人型IVA (PDE-IVA)环AMP磷酸二酯酶新剪接变体的分子克隆及定位于人19号染色体p13.2-q12区域[修正]。
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Horton YM, Sullivan M, Houslay MD
人型IVA (PDE-IVA)环AMP磷酸二酯酶新剪接变体的分子克隆及定位于人19号染色体p13.2-q12区域[修正]。
生物化学杂志1995年6月1日;308 (Pt 2):683-91。
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7772058 (PubMed视图］
- 摘要
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我们从一个人类t细胞Jurkat cDNA文库中分离出了一个新的人类cDNA (2EL)，它与我们以前[Sullivan, Egerton, Shakur, Marquardsen和Houslay (1994) Cell鉴定的人类iv型PDE剪接变异家族' a ' (PDE- iva) cDNA密切相关。学报(自然科学版)，2011,37 (2);(h6.1 PDE-IVA / h6.1;HSPDE4A7)。(PDE代表环核苷酸磷酸二酯酶)。新型cDNA 2EL (PDE-IVA/2EL;HSPDE4A8)含有PDE-IVA/h6.1中没有的两个独特序列区域。这些是一个不同的5'端和一个34 bp插入，出现在一个被认为编码iv型PDE催化位点的结构域内，可预期导致任何表达蛋白的过早截断。HSPDE4A8似乎没有催化活性。人类基因组cosmid克隆的分离和表征表明，2EL和h6.1代表了人类PDE-IVA基因的可变剪接变体。 Using a unique sequence found at the 5'-end of the 2EL cDNA, a probe was generated which was used to screen the DNA of human-hamster hybrids. This located the human gene for PDE-IVA to human chromosome 19. Through both the analysis of genomic DNAs from a human-hamster somatic cell hybrid panel and also using fluorescent in situ hybridization, it was shown that the human PDE-IVA gene is located on human chromosome 19, between p13.2 [corrected] and q12. This region on chromosome 19 has been shown to be related to genetic diseases such as the autosomal dominant cerebrovascular disease CADASIL, susceptibility to late-onset Alzheimer's disease and changes seen in benign pituitary and thyroid adenomas.