Angelopoulou Roxani, Lavranos Giagkos, Manolakou Panagiota
Department of Histology-Embryology, Medical School, Athens University, Greece.
Reprod Biol Endocrinol. 2008 Mar 20;6:12. doi: 10.1186/1477-7827-6-12.
Chromosomal sex determination is a widely distributed strategy in nature. In the most classic scenario, one sex is characterized by a homologue pair of sex chromosomes, while the other includes two morphologically and functionally distinct gonosomes. In mammalian diploid cells, the female is characterized by the presence of two identical X chromosomes, while the male features an XY pair, with the Y bearing the major genetic determinant of sex, i.e. the SRY gene. In other species, such as the fruitfly, sex is determined by the ratio of autosomes to X chromosomes. Regardless of the exact mechanism, however, all these animals would exhibit a sex-specific gene expression inequality, due to the different number of X chromosomes, a phenomenon inhibited by a series of genetic and epigenetic regulatory events described as "dosage compensation". Since adequate available data is currently restricted to worms, flies and mammals, while for other groups of animals, such as reptiles, fish and birds it is very limited, it is not yet clear whether this is an evolutionary conserved mechanism. However certain striking similarities have already been observed among evolutionary distant species, such as Drosophila melanogaster and Mus musculus. These mainly refer to a) the need for a counting mechanism, to determine the chromosomal content of the cell, i.e. the ratio of autosomes to gonosomes (a process well understood in flies, but still hypothesized in mammals), b) the implication of non-translated, sex-specific, regulatory RNAs (roX and Xist, respectively) as key elements in this process and the location of similar mediators in the Z chromosome of chicken c) the inclusion of a chromatin modification epigenetic final step, which ensures that gene expression remains stably regulated throughout the affected area of the gonosome. This review summarizes these points and proposes a possible role for comparative genetics, as they seem to constitute proof of maintained cell economy (by using the same basic regulatory elements in various different scenarios) throughout numerous centuries of evolutionary history.
染色体性别决定是自然界中广泛存在的一种策略。在最经典的情况下,一种性别以一对同源性染色体为特征,而另一种性别则包含两条形态和功能不同的性染色体。在哺乳动物的二倍体细胞中,雌性的特征是存在两条相同的X染色体,而雄性则具有XY染色体对,其中Y染色体携带主要的性别遗传决定因素,即SRY基因。在其他物种中,如果蝇,性别由常染色体与X染色体的比例决定。然而,无论确切机制如何,由于X染色体数量不同,所有这些动物都会表现出性别特异性的基因表达不平等,这一现象受到一系列被称为“剂量补偿”的遗传和表观遗传调控事件的抑制。由于目前充足的可用数据仅限于蠕虫、果蝇和哺乳动物,而对于其他动物群体,如爬行动物、鱼类和鸟类,数据非常有限,因此尚不清楚这是否是一种进化保守机制。然而,已经在进化距离较远的物种,如黑腹果蝇和小家鼠之间观察到了某些惊人的相似之处。这些主要涉及:a)需要一种计数机制来确定细胞的染色体组成,即常染色体与性染色体的比例(这一过程在果蝇中已得到充分理解,但在哺乳动物中仍为假说);b)非翻译的、性别特异性的调控RNA(分别为roX和Xist)作为这一过程的关键要素,以及在鸡的Z染色体中存在类似的介导因子;c)包含染色质修饰的表观遗传最终步骤,这确保了在性染色体的受影响区域内基因表达保持稳定调控。本综述总结了这些要点,并提出了比较遗传学可能发挥的作用,因为它们似乎构成了在数百年进化历史中维持细胞经济性(通过在各种不同情况下使用相同的基本调控元件)的证据。