Search bioRxiv⌕ Search

Biology subjects

Johnson, K. K.

Publications and source records attributed to Johnson, K. K..

2 recordsLinked to original sources

Developing future resilience from signatures of adaptation across the sorghum pangenome

While the green revolution adapted a handful of crops to homogenous and high-input industrialized agriculture, much of the global population still relies on local food production from low-input smallholder farms that grow highly variable crop cultivars. The high diversity of the grain and bioenergy crop sorghum 1-4, and many other crops that were not homogenized during the green revolution 5, not only provides the raw materials for breeders to make substantial gains in cultivar improvement, but also constrains breeding efforts due to highly specialized locally adapted plant phenotypes 6. Here, we construct a 33-member pangenome and identify trait-associated variants in 1,988 cultivars and landraces. We then apply these resources to explore the complex interplay between historical contingency, ongoing adaptation, and the potential for future gains through climate-aware genome-enabled breeding. Specifically, our analyses conclusively demonstrate that multiple nested, deeply diverged, and previously uncharacterized structural variants in the domestication gene SHATTERING1 distinguish the previously established multicentric origin of sorghum. We then apply landscape genomics tests to reveal how gene flow, adaptation, and secondary contact created the complex genetic mosaic in current global breeding networks. Further analysis of climate-gene associations highlights candidate loci underlying adaptation, including the biosynthetic gene cluster for the cyanogenic glucoside dhurrin. Combined, the pangenome-informed variants developed here will enable both trait discovery and subsequent marker assays to accelerate breeding and provide a framework for similar applications in other diverse and non-model crops.

genomics↗

Increased TSH-producing cells in the pituitary gland of Pax6 haploinsufficient mice

Aniridia is a congenital condition characterized by absence of iris and is caused by a semidominant mutation in the transcription factor encoded by the PAX6 gene. Although ocular phenotypes of this disorder are well characterized, recent studies report that individuals with aniridia have a higher propensity for obesity, infertility, polycystic ovarian disease, and severe eczema compared to their Pax6-normal siblings. These symptoms collectively suggest an underlying endocrine disturbance related to haploinsufficient levels of Pax6. In mice, during development, Pax6 expression in the pituitary gland begins at E9.0 in the primordial anterior pituitary gland (Rathkes Pouch). This expression becomes restricted to the dorsal anterior pituitary by E11.5, but is expressed throughout the anterior lobe by E14.5, and remains through adulthood. It is possible that a reduction in Pax6 could result in a change in pituitary hormone levels or cell numbers, which may explain symptoms experienced by aniridics. Using the Small eye mouse model, we find that Pax6 reduction results in a decrease in GH-producing cells and an increase in TSH-producing cells in neonate mice, with the TSH increase continuing into adulthood. Adult Pax6 haploinsufficient mice also have an increase in anterior pituitary volume and weigh significantly less than their wild-type littermates. Furthermore, we show that the increase in TSH-producing cells leads to an increase in thyroxin (T4) in mutant mice, although tri-iodothyronine (T3) levels remain unchanged. These findings present a new role for Pax6 in the endocrine system, which serves to refine our current understanding of Pax6 in endocrine development and maintenance and provides new avenues for investigating endocrine-related symptomatology in aniridia.

developmental biology↗