Lei Hou

The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.

Cotton (Gossypium hirsutum L.) fibers, one of the most important natural raw materials for textile industry, are highly elongated trichomes from epidermal cells of cotton ovules. DET2, an Arabidopsis steroid 5d-reductase, is considered to catalyze a major rate-limiting in brassinosteroid (BR) biosynthesis. To understand the role of BRs in cotton fiber development, GhDET2, which putatively encodes a steroid 5alpha-reductase by sequence comparison, was cloned from developing fiber cells. In vitro assessment of GhDET2 protein activity confirmed that GhDET2 encodes a functional steroid 5alpha-redutase. High levels of GhDET2 transcript were detected during the fiber initiation stage and the fiber rapid elongation stage. Antisense-mediated suppression of GhDET2 inhibited both fiber initiation and fiber elongation. Similarly, treating cultured ovules with finasteride, a steroid 5alpha-reductase inhibitor, reduced fiber elongation. Inhibition of fiber cell elongation by expression of antisense GhDET2 or the finasteride treatment could be reversed by epibrassinolide, a biologically active BR. Furthermore, seed coat-specific expression of GhDET2 increased fiber number and length. Therefore, GhDET2 and BRs play a crucial role in the initiation and elongation of cotton fiber cells, suggesting that modulation of BR biosynthesis factors may improve fiber quality or yield.

progenitors upstream of PRDM1 to regulate the expression of SOX17. This serves to protect hPGCLCs from crossing the Weismann's barrier to adopt somatic cell fates and, therefore, is an essential mechanism for successfully initiating in vitro gametogenesis.