Biology subjects

Gioia, L.

Publications and source records attributed to Gioia, L..

4 recordsLinked to original sources

bioRxiv2025

TGF-β3 Promotes Trophoblast Development via ACSS2-Dependent Permissive Lipid Metabolism

Transforming growth factor-beta (TGF-{beta}) supports the in vitro maintenance of embryonic and trophoblast stem cells. Here, we demonstrated that, in a sheep embryo model, the transition from morula to blastocyst is positively regulated by TGF-{beta}3, primarily through its promotion of trophoblast development. Our results indicate that morulae treated with TGF-{beta}3 develop at a higher rate into blastocysts, characterized by an expanded trophoblast layer marked by CDX-2 expression. In blastocysts, TGF-{beta}3 mediates transcriptional activation of genes involved in cell adhesion and lipid metabolism pathways, leading to remarkable in vitro outgrowth expansion and a substantial increase in trophoblast lipid droplet content. Functional analysis reveal that the positive effects of TGF-{beta}3 are mitigated by inhibition of Acetyl-CoA Synthetase Short-Chain Family Member 2 (ACSS2), a key enzyme upregulated by TGF-{beta}3 and a promoter of de novo lipgenensis. These findings suggest that TGF-{beta}3 modulates lipid metabolism during blastocyst formation and may play a potential role in regulating implantation and placental development.

developmental biology↗

bioRxiv2024

Fertility Preservation of Vacuum-Dried Ram Spermatozoa Stored for Four Years at Room Temperature

Dry storage at room temperature (RT) could simplify spermatozoa banking. Here, we explored DNA stability and in vitro and in vivo development of embryos derived from vacuum-dried encapsulated (VDE) ram spermatozoa stored for four years or after accelerated aging. While some genomic damage was detected at time 0, DNA fragmentation increased from 3.32{+/-}3% (time 0) to 37.64{+/-}4% (4 years). A decrease in blastocyst rate was observed after four years of storage and 6.7 years of simulated storage (10.2% and 9% versus 13.16% at time 0). Embryo quality, assessed based on Cdx2 and Inf-{tau} gene expression, declined over time. Only two of the 23 embryos transferred into synchronized ewes were implanted but were lost by day 40. In conclusion, dry spermatozoa generated blastocysts after four years of RT storage, but their post-implantation development was impaired. Optimization of the water extraction and storage conditions could better preserve the spermatozoas DNA integrity, resulting in improved embryo quality, compatible with development to term.

physiology↗

bioRxiv2018

Association study of long-term kidney transplant rejection using whole-exome sequencing

Long-term renal allograft rejection is the most common outcome in kidney transplantation. Continuing the crusade to extend allograft function after the first year post-transplantation, we attempted to associate genetic factors that might contribute to long-term allograft outcomes by sequencing the exomes of patients diagnosed with chronic allograft nephropathy/interstitial fibrosis and tubular atrophy. A variety of association analyses were employed, but these analyses failed to identify statistically significant associations. The study was underpowered to detect the association of rare genomic variants with small effect sizes. However, it confirmed previous reports of the absence of large effects from common variants. We have made both the study data and analysis workflow available for public use, and we hope that these resources will help to power future meta-analyses that may detect smaller effects.

genetics↗

bioRxiv2017

A Genome-wide Survey of Mutations in the Jurkat Cell Line

The Jurkat cell line has an extensive history as a model of T cell signaling. But at the turn of the 21st century, some irregularities were observed in Jurkats expression of central regulators of T cell receptor signaling, which raised doubts about how closely the cell line paralleled normal human T cells. While numerous expression deficiencies have been described in Jurkat, genetic explanations have only been provided for a handful of defects. Here, we report a comprehensive catolog of genomic variation in the Jurkat cell line based on whole-genome sequencing. With this list of all detectable, non-reference sequences, we prioritize potentially damaging mutations by mining public databases for functional effects. We confirm the majority of documented mutations in Jurkat and propose links from detrimental gene variants to observed expression abnormalities in the cell line. This work ties together decades of molecular experiments and serves as a resource that will streamline both the interpretation of past research and the design of future Jurkat studies.

genomics↗