X 染色体失活与疾病。
X inactivation and disease.
机构信息
Research Institute of Molecular Pathology, Dr. Bohr-Gasse 7, 1030 Vienna, Austria.
出版信息
Semin Cell Dev Biol. 2010 Apr;21(2):194-200. doi: 10.1016/j.semcdb.2009.09.017. Epub 2009 Oct 6.
PMID:19815084
Abstract
X inactivation is the mechanism by which mammals adjust the X-linked gene dosage between the sexes. The dosage difference between XX females and XY males is functionally equalized by silencing one of the two X chromosomes in female cells. This dosage-compensation mechanism is based on the long functional Xist RNA. Here, we review our understanding of dosage compensation and Xist function in the context of disease.
摘要
X 染色体失活是哺乳动物在两性之间调节 X 连锁基因剂量的机制。XX 女性和 XY 男性之间的剂量差异通过在女性细胞中沉默两条 X 染色体之一而在功能上达到平衡。这种剂量补偿机制是基于长的功能性 Xist RNA。在这里，我们根据疾病的情况综述了我们对剂量补偿和 Xist 功能的理解。
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