Mutation of the nuclear pore complex component, aladin1, disrupts asymmetric cell division in Zea mays (maize)

Authors: Best, Norman; ADDO-QUAYE, CHARLES - Lewis And Clark State College; KIM, BONG-SUK - Purdue University; WEIL, CLIFFORD - Purdue University; SCHULZ, BURKHARD - Purdue University; JOHAL, GURI - Purdue University; DILKES, BRIAN - Purdue University

Submitted to: G3, Genes/Genomes/Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 3/17/2021
Publication Date: 6/16/2021
Citation: Best, N.B., Addo-Quaye, C., Kim, B., Weil, C.F., Schulz, B., Johal, G., Dilkes, B.P. 2021. Mutation of the nuclear pore complex component, aladin1, disrupts asymmetric cell division in Zea mays (maize). G3, Genes/Genomes/Genetics. 11(7): Article jkab106. https://doi.org/10.1093/g3journal/jkab106.
DOI: https://doi.org/10.1093/g3journal/jkab106

Interpretive Summary: There are many known genetic disorders in humans. Investigating the genetic factors causing disease in other more scientifically accessible species could provide information on detection and treatment. Identifying the same genetic mutations in other species, including maize, is very difficult due to current mutagenesis approaches and has become a problem to study these genetic diseases. The accomplishment from this work was identifying two mutant alleles in the aladin1 gene of maize, which is the same gene in human that results in triple A syndrome. One of the identified mutations in this work is the same mutation as described in an individual occurrence in humans. We identified that mutation of the aladin1 gene in maize results in progressive effects on plant development; including, plant height, reproductive development, and asymmetric cell division. This findings and accomplishments will contribute to the understanding of aladin1 function in a new species and give understanding to the effects of mutating this component of the nuclear pore complex.

Technical Abstract: 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.