Kay G F
Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Australia.
Mol Cell Endocrinol. 1998 May 25;140(1-2):71-6. doi: 10.1016/s0303-7207(98)00032-x.
X inactivation acts in female mammals to equalise X-linked gene dosage between XX females and XY males. X inactivation is controlled by a single X-linked cis-acting locus called the X inactivation centre (Xic). In 1991 the Xist gene was identified as a candidate for the Xic. Xist is expressed in all adult female tissues, but only from the allele on the inactive X. The Xist transcript does not encode a protein but remains sequestered within the nucleus and co-localises with the inactive X chromosome. Transgenic and knockout studies have shown that a genomic region covering only a few kilobases either side of Xist carries all of the functions attributed to the Xic. The major questions currently occupying researchers studying X inactivation are: how do cells count their number of X chromosomes to determine whether X inactivation is necessary, and how does the Xist transcript inactivate all genes on the X chromosome?
X染色体失活在雌性哺乳动物中发挥作用,以使XX雌性和XY雄性之间的X连锁基因剂量相等。X染色体失活由一个称为X染色体失活中心(Xic)的单一X连锁顺式作用位点控制。1991年,Xist基因被确定为Xic的候选基因。Xist在所有成年雌性组织中表达,但仅从不活跃X染色体上的等位基因表达。Xist转录本不编码蛋白质,而是保留在细胞核内,并与不活跃的X染色体共定位。转基因和基因敲除研究表明,仅覆盖Xist两侧几千个碱基的基因组区域具有归因于Xic的所有功能。目前研究X染色体失活的研究人员关注的主要问题是:细胞如何计算其X染色体的数量以确定是否需要X染色体失活,以及Xist转录本如何使X染色体上的所有基因失活?