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人类SNRPN基因3'端新外显子的鉴定。

Identification of novel exons 3' to the human SNRPN gene.

作者信息

Buiting K, Dittrich B, Endele S, Horsthemke B

机构信息

Institut für Humangenetik, Universitätsklinikum Essen, Germany.

出版信息

Genomics. 1997 Feb 15;40(1):132-7. doi: 10.1006/geno.1996.4571.

Abstract

The gene for the small nuclear ribonucleoprotein N (SNRPN) maps to human chromosome 15 and has 10 exons. Using cDNA cloning, direct cDNA selection, and exon-connection reverse transcriptase (RT)-PCR, we have identified three novel 3' exons of SNRPN, which have no protein coding potential. Like the other SNRPN exons, the novel exons are expressed from the paternal allele only. In contrast to several cDNA clones and RT-PCR products, however, the 3.4-kb transcript detected by Northern blot hybridization with a probe for the novel exons does not contain SNRPN. It is possible that the steady-state RNA observed in fetal tissues and in adult testis, ovary, brain, and muscle is initiated at an as yet unidentified transcription start site downstream of SNRPN or is generated by endonucleolytic cleavage of a precursor transcript, as has been shown for another imprinted gene, the insulin-like growth factor II gene.

摘要

小核核糖核蛋白N(SNRPN)基因定位于人类15号染色体,有10个外显子。通过cDNA克隆、直接cDNA筛选以及外显子连接逆转录酶(RT)-PCR,我们鉴定出了SNRPN的三个新的3'外显子,它们没有蛋白质编码潜力。与其他SNRPN外显子一样,这些新外显子仅从父本等位基因表达。然而,与几个cDNA克隆和RT-PCR产物不同,用针对新外显子的探针进行Northern印迹杂交检测到的3.4-kb转录本不包含SNRPN。在胎儿组织以及成年睾丸、卵巢、大脑和肌肉中观察到的稳态RNA,有可能是在SNRPN下游一个尚未确定的转录起始位点起始的,或者是由前体转录本的内切核酸酶切割产生的,就像另一个印记基因胰岛素样生长因子II基因所显示的那样。

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