Rubin C M, VandeVoort C A, Teplitz R L, Schmid C W
Section of Molecular and Cell Biology, University of California at Davis 95616.
Nucleic Acids Res. 1994 Nov 25;22(23):5121-7. doi: 10.1093/nar/22.23.5121.
A significant fraction of Alu repeats in human sperm DNA, previously found to be unmethylated, is nearly completely methylated in DNA from many somatic tissues. A similar fraction of unmethylated Alus is observed here in sperm DNA from rhesus monkey. However, Alus are almost completely methylated at the restriction sites tested in monkey follicular oocyte DNA. The Alu methylation patterns in mature male and female monkey germ cells are consistent with Alu methylation in human germ cell tumors. Alu sequences are hypomethylated in seminoma DNAs and more methylated in a human ovarian dysgerminoma. These results contrast with methylation patterns reported for germ cell single-copy, CpG island, satellite, and L1 sequences. The function of Alu repeats is not known, but differential methylation of Alu repeats in the male and female germ lines suggests that they may serve as markers for genomic imprinting or in maintaining differences in male and female meiosis.
先前发现人类精子DNA中的大部分Alu重复序列是未甲基化的,但在许多体细胞组织的DNA中几乎完全甲基化。在恒河猴的精子DNA中也观察到类似比例的未甲基化Alu序列。然而,在猴卵泡卵母细胞DNA中测试的限制位点处,Alu几乎完全甲基化。成熟雄性和雌性猴生殖细胞中的Alu甲基化模式与人类生殖细胞肿瘤中的Alu甲基化一致。Alu序列在精原细胞瘤DNA中低甲基化,而在人类卵巢无性细胞瘤中甲基化程度更高。这些结果与报道的生殖细胞单拷贝、CpG岛、卫星和L1序列的甲基化模式形成对比。Alu重复序列的功能尚不清楚,但雄性和雌性生殖系中Alu重复序列的差异甲基化表明它们可能作为基因组印记的标记或维持雄性和雌性减数分裂的差异。