Csink A K, Linsk R, Birchler J A
Division of Biological Sciences, University of Missouri, Columbia 65211.
Genetics. 1994 Sep;138(1):153-63. doi: 10.1093/genetics/138.1.153.
We are interested in identifying single gene mutations that are involved in trans-acting dosage regulation in order to understand further the role of such genes in aneuploid syndromes, various types of dosage compensation as well as in regulatory mechanisms. The Lighten up (Lip) gene in Drosophila melanogaster was identified in a mutagenic screen to detect dominant second site modifiers of white-blood (wbl), a retrotransposon induced allele of the white eye color locus. Lip specifically enhances the phenotype of wbl as well as a subset of other retroelement insertion alleles of white, including the copia-induced allele, white-apricot (wa), and six alleles caused by insertion of I elements. We isolated six alleles of Lip which are all recessive lethal, although phenotypically additive heteroallelic escapers were recovered in some combinations. Lip also suppresses position effect variegation, indicating that it may have a role in chromatin configuration. Additionally, Lip modifies the total transcript abundance of both the blood and copia retrotransposons, having an inverse effect on the steady state level of blood transcripts, while showing a non-additive effect on copia RNA.
我们感兴趣的是鉴定参与反式作用剂量调控的单基因突变,以便进一步了解此类基因在非整倍体综合征、各种类型的剂量补偿以及调控机制中的作用。在果蝇中,通过诱变筛选鉴定出“点亮”(Lip)基因,以检测白血(wbl)的显性第二位点修饰因子,wbl是白眼颜色位点的逆转录转座子诱导等位基因。Lip特异性增强wbl的表型以及白色基因的其他逆转录元件插入等位基因的一个子集,包括copia诱导的等位基因白杏色(wa)以及由I元件插入引起的六个等位基因。我们分离出Lip的六个等位基因,它们都是隐性致死的,不过在某些组合中可恢复到表型上呈加性的杂合等位基因逃逸体。Lip还抑制位置效应斑驳,表明它可能在染色质构型中起作用。此外,Lip改变了血液和copia逆转录转座子的总转录本丰度,对血液转录本的稳态水平有相反的影响,而对copia RNA显示出非加性效应。