Plant Genetics Research Unit, USDA, Agriculture Research Service, Columbia, MO 65211, USA.
Department of Horticulture & Landscape Architecture, Purdue University, West Lafayette, IN 47907, USA.
G3 (Bethesda). 2021 Jul 14;11(7). doi: 10.1093/g3journal/jkab106.
The nuclear pore complex (NPC) regulates the movement of macromolecules between the nucleus and cytoplasm. Dysfunction of many components of the NPC results in human genetic diseases, including triple A syndrome (AAAS) as a result of mutations in ALADIN. Here, we report a nonsense mutation in the maize ortholog, aladin1 (ali1-1), at the orthologous amino acid residue of an AAAS allele from humans, alters plant stature, tassel architecture, and asymmetric divisions of subsidiary mother cells (SMCs). Crosses with the stronger nonsense allele ali1-2 identified complex allele interactions for plant height and aberrant SMC division. RNA-seq analysis of the ali1-1 mutant identified compensatory transcript accumulation for other NPC components as well as gene expression consequences consistent with conservation of ALADIN1 functions between humans and maize. These findings demonstrate that ALADIN1 is necessary for normal plant development, shoot architecture, and asymmetric cell division in maize.
核孔复合体（NPC）调节核质和细胞质之间大分子的运动。NPC 的许多成分功能障碍会导致人类遗传疾病，包括三重 A 综合征（AAAS），这是由于 ALADIN 的突变。在这里，我们报告了玉米同源物 aladin1（ali1-1）的无义突变，该突变位于人类 AAAS 等位基因的同源氨基酸残基上，改变了植物的株高、花序结构和侧生母细胞（SMC）的不对称分裂。与更强的无义等位基因 ali1-2 的杂交鉴定了植物高度和异常 SMC 分裂的复杂等位基因相互作用。ali1-1 突变体的 RNA-seq 分析鉴定了 NPC 其他成分的补偿转录积累，以及与人类和玉米之间 ALADIN1 功能保守一致的基因表达后果。这些发现表明，ALADIN1 是玉米正常发育、 Shoot 结构和不对称细胞分裂所必需的。
