ABSTRACT
We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.
ABSTRACT
Objective: In this study, the transcriptome profile of the stems from Pinellia ternata treated by 30% polyethylene glycol simulated drought stress was analyzed, the key enzyme genes responded to the drought stress were explored, so as to explore the molecular mechanism of P. ternata sprout tumble responded to the drought stress. Methods: The stem segments of P. ternata under drought stress were used as research materials. The Illumina Hiseq 2500 platform was applied for transcriptome sequencing, and bioinformatics analysis was performed on the transcriptome data. Results: A total of 23.00 Gb clean data was obtained, 37 467 952 and 39 903 362 clean reads were gained from the control groups and the drought stress treatment, respectively, and 100 274 uingenes were assembled by Trinity software. A total of 41 132 unigenes were finally obtained with functional annotations against the Nr, eggNOG, Pfam, Swiss-Prot, KOG, GO, KEGG, and COG databases. Furthermore, 4 052 differentially expressed genes (DEGs) were obtained, in details, 2 080 DEGs were up-regulated while 1 972 DEGs were with down-regulated expression. KEGG Pathway enrichment analysis showed that DEGs were mostly involved in ribosome, carbon metabolism, starch and sucrose metabolism, plant hormone signal transduction and biosynthesis of amino acids process. The expression levels of the genes encoded plant hormone metabolism and signal transduction, redox-related enzymes, heat shock proteins and vacuolar processing enzymes were significantly promoted after drought stress treatment, while most of the DEGs encoded aquaporins were down-regulated. Conclusion: By analyzing the transcriptome profiles of P. ternata under drought stress simulated by PEG, the candidate genes associated with water metabolism, plant hormone and signal transduction, as well as the related responsive proteins were obtained, which could provide abundant genetic resources and theoretical basis for understanding the mechanism of P. ternata sprout tumble caused by drought stress.