小鼠印记基因Grf1/Cdc25Mm基因座中的甲基化印记标记与U2afbp-rs基因具有共同特征：与短串联重复序列及高甲基化区域相关联。

A methylation imprint mark in the mouse imprinted gene Grf1/Cdc25Mm locus shares a common feature with the U2afbp-rs gene: an association with a short tandem repeat and a hypermethylated region.

作者信息

Shibata H, Yoda Y, Kato R, Ueda T, Kamiya M, Hiraiwa N, Yoshiki A, Plass C, Pearsall R S, Held W A, Muramatsu M, Sasaki H, Kusakabe M, Hayashizaki Y

机构信息

Genome Science Laboratory, RIKEN Tsukuba Life Science Center, Ibaraki, Japan.

出版信息

Genomics. 1998 Apr 1;49(1):30-7. doi: 10.1006/geno.1998.5218.

DOI:10.1006/geno.1998.5218

PMID:9570946

Abstract

We identified a sperm-specific methylation imprint mark (Site II) associated with a short tandem repeat sequence and a site/region methylated in both gametes (Site I) in the Grf1 locus on mouse chromosome 9, which shared a common feature with the U2afbp-rs gene. Sites or regions of gamete-specific methylation in imprinted genes are strong candidates for carrying information regarding the parental origin of alleles. The gamete-specific methylation pattern of Sites I and II was conserved after fertilization, but attained the somatic cell pattern by the blastocyst stage. In primordial germ cells, Site I was methylated, but Site II was unmethylated in both male and female embryos, suggesting that the sperm-specific methylation imprint mark in Site II was established during spermatogenesis. These common features in methylation imprint regions may be a clue to identifying regions carrying primary information for the imprinting regulation.

摘要

我们在小鼠9号染色体的Grf1基因座中鉴定出一个与短串联重复序列相关的精子特异性甲基化印记标记（位点II）以及一个在两性配子中均发生甲基化的位点/区域（位点I），该基因座与U2afbp-rs基因具有共同特征。印记基因中配子特异性甲基化的位点或区域极有可能携带有关等位基因亲本来源的信息。受精后，位点I和位点II的配子特异性甲基化模式得以保留，但在囊胚期达到体细胞模式。在原始生殖细胞中，位点I发生甲基化，但在雄性和雌性胚胎中位点II均未甲基化，这表明位点II中精子特异性甲基化印记标记是在精子发生过程中建立的。甲基化印记区域中的这些共同特征可能是识别携带印记调控主要信息区域的线索。