IntroductionOsteosarcoma is the most common bone tumor with high metastasis and recurrence rate. MicroRNA-19a (miR-19a) has been reported to act as tumor oncogene in multiple cancers. The objective of the study was to explore the molecular mechanisms of miR-19a in osteosarcoma cell migration and invasion.Materials and methodsReal-time quantitative polymerase chain reaction (RT-qPCR) and Western blotting were employed to measure the levels of miR-19a and RhoB in osteosarcoma tissues and cell lines. Transwell assay was employed to analyze the tissues and cell lines’ migratory and invasive abilities. Dual luciferase reporter assay was utilized to analyze the association between miR-19a and RhoB.ResultsMiR-19a was overexpressed in osteosarcoma tissues and cell lines. MiR-19a promoted osteosarcoma cell migration and invasion in vitro. RhoB was thus confirmed as a direct and functional target of miR-19a, and it could partially reverse the function of miR-19a. Knockdown miR-19a inhibited osteosarcoma cell epithelial-mesenchymal transition (EMT) and suppressed osteosarcoma xenograft growth.ConclusionMiR-19a enhanced cell migration, invasion and EMT through RhoB in osteosarcoma. The newly identified miR-19a/RhoB axis provides novel insight into the progression of osteosarcoma and offers a promising target for osteosarcoma therapy.
Background X-linked hyper IgM syndromes (X-HIGM) and autosomal recessive hyper IgE syndromes (HIES) are rare primary immunodeficiency diseases, characterized by recurrent infections due to the impairment in immune system. This study was aimed to investigate genotype-phenotype association and reveal the novel likely pathogenic mutations in CD40L and DOCK8 responsible to patients with X-HIGM and HIES respectively. Methods Whole exome sequencing (WES) and Sanger sequencing were performed to identify and verify the likely pathogenic mutations in the two families. Results A novel hemizygous mutation for CD40L in exon 2 (c.257delA) was identified in the first proband resulting in the substitution of glycine for glutamic acid at 86 codon of the protein causing the early termination of translation at downstream codon 9 (p.E86Gfs*9). Sanger sequencing verified that the variant was inherited from his mother. The second proband carried two novel compound heterozygous mutations in DOCK8, one at exon 14, c.1546C > G inherited from his father, another at exon 41, c.5355 + 6C > T(splicing) from his mother. Conclusion This study extends our knowledge to pathogenetic mutations spectrum of CD40L and DOCK8 which is helpful for accelerating prenatal diagnosis of X-HIGM and HIES and promoting timely treatment of patients.
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