Qian N, Frank D, O'Keefe D, Dao D, Zhao L, Yuan L, Wang Q, Keating M, Walsh C, Tycko B
Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Hum Mol Genet. 1997 Nov;6(12):2021-9. doi: 10.1093/hmg/6.12.2021.
We searched for novel imprinted genes in a region of human chromosome 11p15.5, which contains several known imprinted genes. Here we describe the cloning and characterization of the IPL ( I mprinted in P lacenta and L iver) gene, which shows tissue-specific expression and functional imprinting, with the maternal allele active and the paternal allele relatively inactive, in many human and mouse tissues. Human IPL is highly expressed in placenta and shows low but detectable expression in fetal and adult liver and lung. Mouse Ipl maps to the region of chromosome 7 which is syntenic with human 11p15.5 and this gene is expressed in placenta and at higher levels in extraembryonic membranes (yolk sac), fetal liver and adult kidney. Mouse and human IPL show sequence similarity to TDAG51 , a gene which was shown to be essential for Fas expression and susceptibility to apoptosis in a T lymphocyte cell line. Like several other imprinted genes, mouse and human IPL genes are small and contain small introns. These data expand the repertoire of known imprinted genes and will be helpful in testing the mechanism of genomic imprinting and the role of imprinted genes in growth regulation.
我们在人类11号染色体p15.5区域寻找新的印记基因，该区域包含几个已知的印记基因。在此，我们描述了IPL（胎盘和肝脏中印记）基因的克隆与特性分析，该基因在许多人类和小鼠组织中表现出组织特异性表达和功能性印记，其中母本等位基因活跃而父本等位基因相对不活跃。人类IPL在胎盘中高度表达，在胎儿及成人的肝脏和肺中表达较低但可检测到。小鼠Ipl基因定位于7号染色体上与人类11p15.5同线的区域，该基因在胎盘中表达，在胚外膜（卵黄囊）、胎儿肝脏和成人肾脏中表达水平更高。小鼠和人类的IPL与TDAG51基因存在序列相似性，TDAG51基因在T淋巴细胞系中对Fas表达及凋亡易感性至关重要。与其他几个印记基因一样，小鼠和人类的IPL基因很小，内含子也小。这些数据扩展了已知印记基因的种类，将有助于检验基因组印记机制以及印记基因在生长调控中的作用。
