Cell and Developmental Biology Center, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Development. 2022 Apr 1;149(7). doi: 10.1242/dev.199987. Epub 2022 Mar 31.
Microcephaly is a failure to develop proper brain size and neuron number. Mutations in diverse genes are linked to microcephaly, including several with DNA damage repair (DDR) functions; however, it is not well understood how these DDR gene mutations limit brain size. One such gene is TRAIP, which has multiple functions in DDR. We characterized the Drosophila TRAIP homolog nopo, hereafter traip, and found that traip mutants (traip-) have a brain-specific defect in the mushroom body (MB). traip- MBs were smaller and contained fewer neurons, but no neurodegeneration, consistent with human primary microcephaly. Reduced neuron numbers in traip- were explained by premature loss of MB neuroblasts (MB-NBs), in part via caspase-dependent cell death. Many traip- MB-NBs had prominent chromosome bridges in anaphase, along with polyploidy, aneuploidy or micronuclei. Traip localization during mitosis is sufficient for MB development, suggesting that Traip can repair chromosome bridges during mitosis if necessary. Our results suggest that proper brain size is ensured by the recently described role for TRAIP in unloading stalled replication forks in mitosis, which suppresses DNA bridges and premature neural stem cell loss to promote proper neuron number.
小头畸形是大脑大小和神经元数量发育异常。多种基因的突变与小头畸形有关,包括几种具有 DNA 损伤修复(DDR)功能的基因;然而,这些 DDR 基因突变如何限制大脑大小还不是很清楚。TRAIp 就是这样一个基因,它在 DDR 中具有多种功能。我们对果蝇 TRAIP 同源物 nopo(简称 traip)进行了表征,发现 traip 突变体(traip-)的蘑菇体(MB)存在脑特异性缺陷。traip-的 MB 较小,神经元较少,但没有神经退行性变,与人类原发性小头畸形一致。traip-中的神经元数量减少可以通过 MB 神经母细胞(MB-NBs)的过早丧失来解释,部分原因是半胱天冬酶依赖性细胞死亡。许多 traip-的 MB-NBs 在后期出现明显的染色体桥,同时还存在着多倍体、非整倍体或微核。Traip 在有丝分裂期间的定位对于 MB 的发育是足够的,这表明如果需要,Traip 可以在有丝分裂中修复染色体桥。我们的研究结果表明,TRAIP 在有丝分裂中最近被描述的卸载停滞复制叉的作用对于确保大脑大小至关重要,它可以抑制 DNA 桥和过早的神经干细胞丢失,从而促进神经元数量的正常。