C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
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DOI：
10.1016/j.ygeno.2006.12.008
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发表时间：
2007-05-01
期刊：
影响因子：
4.4
通讯作者：
Horsthemke, Bernhard
中科院分区：
文献类型：
--
作者：
Buiting, Karin;Nazlican, Huelya;Horsthemke, Bernhard
Prader-Willi综合征（PWS）区域包含仅从父亲染色体转录的几个基因。我们以前已经确定了一个睾丸特异性基因，C15 orf 2，NDN和SNURF-SNRPN之间的映射，并从两个等位基因表达。在这里，我们报告了两个新的基因（普拉德威利区非蛋白编码RNA 1和2）位于NDN和C15 orf 2之间。通过数据库搜索，我们发现了五个部分重复的副本，其中每一个似乎只有一个是活跃的。PWRN 2仅在睾丸中表达，并且是双等位基因的。PWRN 1在睾丸和肾脏中双等位基因表达，但在胎儿脑中单等位基因表达。外显子I上游15 kb的CpG岛的甲基化分析表明，精子中没有甲基化，但在胎脑中有甲基化和未甲基化的等位基因。对C15 orf 2的重新研究表明，该基因也在胎儿脑中表达，并且在该组织中的表达是单等位基因的。我们的结论是，PWRN 1和C15 orf 2可能在PWS中发挥作用。(c)2007年爱思唯尔公司All rights reserved.
The Prader-Willi syndrome (PWS) region contains several genes transcribed from the paternal chromosome only. We have previously identified a testis-specific gene, C15orf2, which maps between NDN and SNURF-SNRPN and is expressed from both alleles. Here we report on two novel genes (prader-willi region non-protein-coding RNA 1 and 2) located between NDN and C15orf2. By database search we found five partially duplicated copies, of which only one of each appears to be active. PWRN2 is expressed only in testis and is biallelic. PWRN1 is biallelically expressed in testis and kidney, but monoallelically in fetal brain. Methylation analysis of a CpG island 15 kb upstream of exon I showed absence of methylation in spermatozoa, but methylated and unmethylated alleles in fetal brain. Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS. (c) 2007 Elsevier Inc. All rights reserved.