Capovilla Maria, Robichon Alain, Rassoulzadegan Minoo
UMR 1355-7254 INRA/Université Côte d'Azur/CNRS, Institut Sophia Agrobiotech, 400 route des Chappes, Sophia Antipolis, France.
Université Côte d'Azur, Inserm U1091-CNRS U7277, Nice, France.
PLoS One. 2017 Mar 29;12(3):e0172780. doi: 10.1371/journal.pone.0172780. eCollection 2017.
The hereditary transmission of a phenotype independent from DNA sequence implies epigenetic effects. Paramutation is a heritable epigenetic phenomenon observed in plants and animals. To investigate paramutation in Drosophila, we used the P{ry+t7.2 = PZ}Dl05151 P-element insertion in the Drosophila melanogaster genome that causes a dominant visible phenotype: the presence of characteristic extra-veins in the fly wings. This extra-vein phenotype presents variable expressivity and incomplete penetrance. The insert is a PZ element located 680 bp upstream from the ATG of the Delta (Dl) gene, encoding the Notch ligand involved in wing vein development, and acts as a null allele. In the G2 offspring from a cross between the heterozygous transgenic stock and wild-type flies, we observed the transmission of the extra-vein phenotype to wild-type flies without the transgene, independently of gender and across many generations. This is a "paramutation-like" example in the fly: the heritable transmission of a phenotypic change not linked to a classical genetic mutation. A "paramutagenic" allele in heterozygotes transmits the phenotype of the heterozygotes to the wild-type allele ("paramutant") in a stable manner through generations. Distinct from paramutation events so far described in Drosophila, here we deal with a dominant effect on a single gene involving variable hereditary signals.
一种独立于DNA序列的表型的遗传传递意味着表观遗传效应。副突变是在植物和动物中观察到的一种可遗传的表观遗传现象。为了研究果蝇中的副突变,我们利用了果蝇黑腹果蝇基因组中的P{ry+t7.2 = PZ}Dl05151 P元素插入,该插入导致一种显性可见表型:果蝇翅膀上出现特征性的额外静脉。这种额外静脉表型表现出可变的表达性和不完全的外显率。该插入是一个PZ元件,位于Delta(Dl)基因ATG上游680 bp处,该基因编码参与翅脉发育的Notch配体,并作为一个无效等位基因起作用。在杂合转基因品系与野生型果蝇杂交的G2后代中,我们观察到额外静脉表型传递给了没有转基因的野生型果蝇,与性别无关且跨越许多代。这是果蝇中的一个“类副突变”例子:一种与经典基因突变无关的表型变化的可遗传传递。杂合子中的一个“副诱变”等位基因通过几代以稳定的方式将杂合子的表型传递给野生型等位基因(“副突变体”)。与迄今为止在果蝇中描述的副突变事件不同,这里我们处理的是对单个基因的显性效应,涉及可变的遗传信号。