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哺乳动物中的基因组印记

Genomic imprinting in mammals.

作者信息

Bartolomei M S, Tilghman S M

机构信息

Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.

出版信息

Annu Rev Genet. 1997;31:493-525. doi: 10.1146/annurev.genet.31.1.493.

Abstract

A handful of autosomal genes in the mammalian genome are inherited in a silent state from one of the two parents, and in a fully active form from the other, thereby rendering the organism functionally hemizygous for imprinted genes. To date 19 imprinted genes have been identified; 5 are expressed from the maternal chromosome while the rest are expressed from the paternal chromosome. Allele-specific methylation of CpG residues, established in one of the germlines and maintained throughout embryogenesis, has been clearly implicated in the maintenance of imprinting in somatic cells. Although the function of imprinting remains a subject of some debate, the process is thought to have an important role in regulating the rate of fetal growth.

摘要

哺乳动物基因组中的少数常染色体基因从双亲之一处以沉默状态遗传,而从另一方处以完全活跃的形式遗传,从而使生物体在功能上成为印迹基因的半合子。迄今为止,已鉴定出19个印迹基因;其中5个从母本染色体表达,其余的从父本染色体表达。在生殖细胞系之一中建立并在整个胚胎发育过程中维持的CpG残基的等位基因特异性甲基化,已被明确认为与体细胞中印迹的维持有关。尽管印迹的功能仍是一些争论的主题,但该过程被认为在调节胎儿生长速率方面具有重要作用。

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