Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs.
Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs.
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U2AFBPL 中不存在印记，U2AFBPL 是印记小鼠基因 U2afbp-rs 的人类同源物。
DOI：
10.1006/bbrc.1996.0716
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发表时间：
1996
影响因子：
3.1
通讯作者：
Held,WA
中科院分区：
文献类型：
--
作者：
Pearsall,RS;Shibata,H;Brozowska,A;Yoshino,K;Okuda,K;deJong,PJ;Plass,C;Chapman,VM;Hayashizaki,Y;Held,WA
小鼠基因U2辅助因子结合蛋白相关序列（U2 afbp-rs）先前已被证明是基因组印迹与单等位基因表达从父亲的等位基因。为了确定人类同源物是否是印记的，是否包含调节印记的保守结构特征，我们从人类P1衍生的人工染色体（PAC）文库中分离出基因组克隆，该文库映射到人类染色体5 q22 -31，该区域与小鼠染色体11的近端部分同线，其中U2 afbp-rs驻留。分离了基因组亚克隆，其含有与小鼠基因具有高度同源性的开放阅读框。该亚克隆还保持了小鼠基因的无内含子特征。AKpnI基因开放阅读框内的多态性被发现发生在21%（8/38）的人胎盘组织样本中检测的等位基因中。使用Kpn I多态性对人类胎盘进行RT-PCR分析以确定等位基因的亲本来源，表明人类5号染色体U2 AFBPL基因的双等位基因表达。
The mouse gene U2 auxiliary factor binding protein related sequence (U2afbp-rs) has previously been shown to be genomically imprinted with monoallelic expression from the paternal allele. To determine if the human homologue is imprinted and contains conserved structural features which regulate imprinting, we isolated genomic clones from a human P1-derived artificial chromosome (PAC) library that map to human chromosome 5q22-31, a region syntenic to the proximal portion of mouse chromosome 11 whereU2afbp-rsresides. A genomic subclone was isolated which contained an open reading frame with high homology to the mouse gene. This subclone also maintained the intronless character of the mouse gene. AKpnI polymorphism within the open reading frame of the gene was found to occur in 21% (8/38) of the alleles tested from human placental tissue samples. RT-PCR analysis of human placentas using theKpnI polymorphism to determine the parental origin of the alleles indicates biallelic expression of the human chromosome 5 U2AFBPL gene.