PARENTAL IMPRINTING OF THE MOUSE H19 GENE
PARENTAL IMPRINTING OF THE MOUSE H19 GENE
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DOI：
10.1038/351153a0
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发表时间：
1991-05-09
期刊：
影响因子：
64.8
通讯作者：
TILGHMAN, SM
中科院分区：
文献类型：
--
作者：
BARTOLOMEI, MS;ZEMEL, S;TILGHMAN, SM
小鼠H19基因编码发育中小鼠胚胎中最丰富的RNA之一1。 它在发育的胚泡阶段表达，并在内胚层和中胚层来源的组织中积累到高水平（H. Kim，未发表的结果）。 出生后，该基因在除骨骼肌外的所有组织中受到抑制。 它在2.5-腺苷酸酶RNA中缺乏共同的开放阅读框架，但在啮齿动物和人类的基因之间具有相当大的核苷酸序列相似性2，3。 该基因在转基因小鼠中的表达导致晚期产前致死，表明其基因产物的剂量受到严格控制4。 H19基因定位于小鼠7号染色体的远端片段，位于父母印记5的区域，这是一个基因在母亲和父亲染色体上差异表达的过程。 我们现在已经使用了一种RNA酶保护试验，可以区分小鼠四个亚种中的H19等位基因，以证明H19基因是父母印迹的，活性拷贝来自母亲。 该测定法将在测定等位基因特异性基因表达中普遍使用。
THE mouse H19 gene encodes one of the most abundant RNAs in the developing mouse embryo 1. It is expressed at the blastocyst stage of development, and accumulates to high levels in tissues of endodermal and mesodermal origin (H. Kim, unpublished result). After birth the gene is repressed in all tissues except skeletal muscle. It lacks a common open reading frame in the 2.5-kilobase RNA, but has considerable nucleotide sequence similarity between the genes of rodents and humans 2,3. Expression of the gene in transgenic mice results in late prenatal lethality, suggesting that the dosage of its gene product is strictly controlled 4. The H19 gene maps to the distal segment of mouse chromosome 7, in a region that is parentally imprinted 5, a process by which genes are differentially expressed on the maternal and paternal chromosomes. We have now used an RNase protection assay that can distinguish between H19 alleles in four subspecies of Mus, to demonstrate that the H19 gene is parentally imprinted, with the active copy derived from the mother. This assay will be of general use in assaying allele-specific gene expression.