Saebøe-Larssen S, Urbanczyk Mohebi B, Lambertsson A
Department of Biology, University of Oslo, Norway.
Mol Gen Genet. 1997 Jun;255(2):141-51. doi: 10.1007/s004380050482.
The Minute phenotype results from mutations at > 50 loci scattered throughout the genome of Drosophila. Common traits of the Minute phenotype are short and thin bristles, slow development, and recessive lethality. Here, we report a novel P-element induced Minute mutation, P¿lacW¿ M(3)66D1, that maps to region 66D on chromosome 3L. Flies heterozygous for P¿lacW¿ M(3)66D1 have a strong Minute phenotype. Molecular characterisation of the chromosomal region revealed three previously undescribed Drosophila genes clustered within a 5-kb genomic fragment. Two of the genes have significant sequence homology to genes for the mammalian ribosomal proteins L14 and RD, respectively, and share a joint 240-bp promoter region harbouring the P-element insert. Quantitative Northern blot analyses showed the mutation to affect RPL14 mRNA levels only. Interestingly, the reduction in abundance of RPL14 mRNA is not constitutive, indicating that the promoter function abolished by the inserted P-element is utilised with different efficiencies in different developmental situations. Remobilisation of the P element produced wild-type flies with normal levels of RPL14 mRNA, demonstrating that the mutant phenotype is caused by the insertion. P¿lacW¿ M(3)66D1 joins a growing list of Minute mutations associated with ribosomal protein-haploinsufficiency.
微小表型是由果蝇基因组中分布于50多个位点的突变所导致。微小表型的常见特征包括刚毛短且细、发育缓慢以及隐性致死性。在此,我们报告一种新的由P因子诱导的微小突变,即P-lacW M(3)66D1,它定位于3L染色体的66D区域。P-lacW M(3)66D1杂合子果蝇具有强烈的微小表型。对该染色体区域的分子特征分析揭示,在一个5千碱基的基因组片段内聚集着三个先前未被描述的果蝇基因。其中两个基因分别与哺乳动物核糖体蛋白L14和RD的基因具有显著的序列同源性,并共享一个包含P因子插入位点的240碱基对的联合启动子区域。定量Northern印迹分析表明该突变仅影响RPL14 mRNA水平。有趣的是,RPL14 mRNA丰度的降低并非是组成型的,这表明被插入的P因子破坏的启动子功能在不同的发育情况下以不同的效率被利用。P因子的重新移动产生了RPL14 mRNA水平正常的野生型果蝇,这证明突变表型是由插入导致的。P-lacW M(3)66D1加入了与核糖体蛋白单倍剂量不足相关的微小突变的不断增加的列表中。