Wang Qiong, Mank Judith E, Li Junying, Yang Ning, Qu Lujiang
Department of Animal Genetics and Breeding, National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing, China.
Department of Genetics Evolution and Environment, University College London, United Kingdom.
Genome Biol Evol. 2017 Mar 1;9(3):619-626. doi: 10.1093/gbe/evx031.
Heterogametic sex chromosomes have evolved many times independently, and in many cases, the loss of functional genes from the sex-limited Y or W chromosome leaves only one functional gene copy on the corresponding X or Z chromosome in the heterogametic sex. Because gene dose often correlates with gene expression level, this difference in gene dose between males and females for X- or Z-linked genes in some cases has selected for chromosome-wide transcriptional dosage compensation mechanisms to counteract any reduction in expression in the heterogametic sex. These mechanisms are thought to restore the balance between sex-linked loci and the autosomal genes they interact with, and this also typically results in equal expression between the sexes. However, dosage compensation in many other species is incomplete, and in the case of birds average expression from males (ZZ) remains higher than in females (ZW). Interestingly, recent reports in chickens and related species have shown that the Z chromosome is expressed less in males than would be expected from two copies of the chromosome, and recent data from cell-based approaches on 11 loci in chicken have suggested that one Z chromosome is partially inactivated in males, in a mechanism thought to be homologous to X inactivation in therian mammals. In the present study, we use controlled crosses in three tissues to test for the presence of Z inactivation in males, which would be expected to bias transcription to the active gene copy (allele-specific expression). We show that for the vast majority of genes on the chicken Z chromosome, males express both parental alleles at statistically similar levels, indicating no Z chromosome inactivation. For those Z chromosome loci with detectable ASE in males, we show that the most likely cause is cis-regulatory variation, rather than Z chromosome inactivation. Taken together, our results indicate that unlike the X chromosome in mammals, Z inactivation does not affect an appreciable number of loci in chicken.
异配性染色体已经多次独立进化,在许多情况下,性限Y或W染色体上功能基因的缺失使得异配性别中相应的X或Z染色体上仅留下一个功能基因拷贝。由于基因剂量通常与基因表达水平相关,某些情况下X或Z连锁基因在雄性和雌性之间的这种基因剂量差异促使了全染色体范围的转录剂量补偿机制的产生,以抵消异配性别中基因表达的任何降低。这些机制被认为可以恢复性连锁基因座与其相互作用的常染色体基因之间的平衡,这通常也会导致两性之间的表达相等。然而,许多其他物种的剂量补偿并不完全,就鸟类而言,雄性(ZZ)的平均表达仍高于雌性(ZW)。有趣的是,最近关于鸡和相关物种的报道表明,Z染色体在雄性中的表达低于从该染色体的两个拷贝预期的表达水平,并且最近基于细胞方法对鸡的11个基因座的数据表明,一条Z染色体在雄性中部分失活,其机制被认为与有胎盘哺乳动物中的X染色体失活同源。在本研究中,我们在三种组织中进行了受控杂交,以测试雄性中是否存在Z染色体失活,这预计会使转录偏向于活性基因拷贝(等位基因特异性表达)。我们表明,对于鸡Z染色体上的绝大多数基因,雄性以统计学上相似的水平表达两个亲本等位基因,表明不存在Z染色体失活。对于那些在雄性中可检测到等位基因特异性表达的Z染色体基因座,我们表明最可能的原因是顺式调控变异,而不是Z染色体失活。综上所述,我们的结果表明,与哺乳动物的X染色体不同,Z染色体失活不会影响鸡中相当数量的基因座。