基因组铭印
基因铭印（英语：Genomic imprinting）又译遗传印记或遗传铭印（genetic imprinting）或基因印记是一种不遵从孟德尔定律的表观遗传学现象，指只有来自特定亲代的等位基因得以表达。此现象已知可见于昆虫、哺乳动物及开花植物。[1][2]
在一般二倍体生物的体细胞中拥有分别来自两个亲本的两份基因组，通常这两份基因组中的等位基因都能表现。但少数（小于1%）的基因会受到铭印的影响，使其中一份基因失去作用，称之为沉默，只表达等位基因中的一者。例如一种制造类胰岛素的生长因子IGF-2的基因，只有来自父亲的等位基因能够表现。有研究表明，基因印记在胚胎发生的过程中至关重要。[3]
机制
基因铭印通常是由基因的表观遗传修饰导致的，多见于CpG位点的甲基化（在胞嘧啶上添加甲基），有沉默基因的作用，甲基化的等位基因表达是受抑制的，而活性等位基因是未被甲基化的。[4][5]人类的基因印记是在配子（精子、卵细胞）生成的时候被重置、决定的。[6]
参见
外部链接
- Imprinted Gene and Parent-of-origin Effect Database （页面存档备份，存于互联网档案馆）
- MRC Harwell Imprinting Resource
- geneimprint.com （页面存档备份，存于互联网档案馆）
- J. Kimball's Imprinted Genes Site
- 医学主题词表（MeSH）：Genomic+imprinting
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参考文献
- ^ Ohnishi, Takayuki; Sekine, Daisuke; Kinoshita, Tetsu. Chapter One - Genomic Imprinting in Plants: What Makes the Functions of Paternal and Maternal Genes Different in Endosperm Formation?. Yamamoto, Daisuke (编). Advances in Genetics. Epigenetic Shaping of Sociosexual Interactions 86. Academic Press. 2014-01-01: 1–25. doi:10.1016/b978-0-12-800222-3.00001-2.
- ^ Deshpande, Sharvari; Nair, Sweta; Balasinor, N. H. Chapter 2 - Genomic imprinting. Tollefsbol, Trygve (编). Epigenetics and Reproductive Health. Translational Epigenetics 21. Academic Press. 2021-01-01: 27–46. doi:10.1016/b978-0-12-819753-0.00002-7.
- ^ Tucci, Valter; Isles, Anthony R.; Kelsey, Gavin; Ferguson-Smith, Anne C.; Tucci, Valter; Bartolomei, Marisa S.; Benvenisty, Nissim; Bourc’his, Déborah; Charalambous, Marika; Dulac, Catherine; Feil, Robert. Genomic Imprinting and Physiological Processes in Mammals. Cell. 2019-02, 176 (5). ISSN 0092-8674. doi:10.1016/j.cell.2019.01.043.
- ^ Li, Xia. 5 - Uniparental disomy and imprinting disorders. Li, Xia (编). Cases in Laboratory Genetics and Genomics (LGG) Practice. Academic Press. 2023-01-01: 65–81. ISBN 978-0-323-99622-8. doi:10.1016/b978-0-323-99622-8.00031-9.
- ^ Falls, J. Greg; Pulford, David J.; Wylie, Andrew A.; Jirtle, Randy L. Genomic Imprinting: Implications for Human Disease. The American Journal of Pathology. 1999-03-01, 154 (3) [2023-11-10]. ISSN 0002-9440. PMC 1866410
. PMID 10079240. doi:10.1016/S0002-9440(10)65309-6. （原始内容存档于2023-11-10） （英语）.
- ^ Li, Yufeng; Sasaki, Hiroyuki. Genomic imprinting in mammals: its life cycle, molecular mechanisms and reprogramming. Cell Research. 2011-03, 21 (3). ISSN 1748-7838. PMC 3193417 . PMID 21283132. doi:10.1038/cr.2011.15 （英语）.
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