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Key message: MADS-box genes family may play important roles in the flower sex determination in Excoecaria agallocha. A total of 73 MADS-box genes were identified in E. agallocha. De novo transcriptome assembly analysis suggested that AP1/FUL, AP3/PI, AGL104, and SOC1 plays potential roles in E. agallocha flower sex determination. Context: Excoecaria agallocha is a dioecious species containing both male and female individuals producing unisexual flowers. The underlying mechanisms regulating inflorescence differentiation in these species remains poorly understood. Aims: Flower development influences reproduction and breeding in E.agallocha, which contributes to ecological restoration in the intertidal zone. Methods: We performed de novo transcriptome assembly analysis on male and female flowers and leaves from E. agallocha. Results: We identified a total of 73 MADS-box genes in the E. agallocha genome, which we grouped into five distinct classes (MIKCc, Mα, Mβ, Mγ, MIKC*) after phylogenetic comparisons with J. curcas homologs. We analyzed expression profiles and suggested AP1/FUL, AP3/PI, AGL104, and SOC1 as candidate regulators of sex determination. In addition, several EaMADS genes were significantly upregulated in flowers compared to leaves. Conclusion: Our study represents the first detailed, comprehensive evaluation of the regulation of MADS-box genes associated with sex determination in E. agallocha. The assembled transcriptomic profiles increase the genetic information available for this species and constitute an important contribution to functional studies of inflorescence genes. In turn, this will help exploring the molecular mechanisms underlying the evolution of E. agallocha. [ABSTRACT FROM AUTHOR]

Background: Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline level) and carnitine uptake defect (CUD, screened by free carnitine level), is not satisfactory. This study was conducted to determine whether a second-tier molecular test could improve the sensitivity of citrin deficiency and CUD detection without increasing the false-positive rate., Methods: Three mutations in the SLC25A13 gene (for citrin deficiency) and one mutation in the SLC22A5 gene (for CUD) were analyzed in newborns who demonstrated an inconclusive primary screening result (with levels between the screening and diagnostic cutoffs)., Results: The results revealed that 314 of 46 699 newborns received a second-tier test for citrin deficiency, and two patients were identified; 206 of 30 237 newborns received a second-tier testing for CUD, and one patient was identified. No patients were identified using the diagnostic cutoffs. Although the incidences for citrin deficiency (1:23 350) and CUD (1:30 000) detected by screening are still lower than the incidences calculated from the mutation carrier rates, the second-tier molecular test increases the sensitivity of newborn screening for citrin deficiency and CUD without increasing the false-positive rate., Conclusions: Utilizing a molecular second-tier test for citrin deficiency and carnitine transporter deficiency is feasible.