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J Hum Genet ; 64(9): 875-883, 2019 Sep.
Article En | MEDLINE | ID: mdl-31273320

Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. Now, large quantities of pathogenic genes of syndromic micrognathia have been revealed. However, how these different pathogenic genes could lead to similar phenotypes, and whether there are some common characteristics among these pathogenic genes are still unknown. In this study, we proposed a genetic-phenotypic classification of syndromic micrognathia based on pathogenic genes information obtained from Phenolyzer, DAVID, OMIM, and PubMed database. Pathogenic genes of syndromic micrognathia could be divided into four groups based on gene function, including cellular processes and structures, cell metabolism, cartilage and bone development, and neuromuscular function. In addition, these four groups exhibited various clinical characteristics, and the affected systems, such as central nervous system, skeletal system, cardiovascular system, oral and dental system, respiratory system and muscle, were different in these four groups. This classification could provide meaningful insights into the pathogenesis of syndromic micrognathia, and offer some clues for understanding the molecular mechanism, as well as guiding precise clinical diagnosis and treatment for syndromic micrognathia.

Mandible/pathology , Micrognathism/classification , Micrognathism/genetics , Micrognathism/pathology , Phenotype , Humans , Syndrome
Acta Biochim Biophys Sin (Shanghai) ; 51(6): 588-597, 2019 Jun 20.
Article En | MEDLINE | ID: mdl-31089719

The forkhead transcription factor C1 (Foxc1) is a cell-fate-determining factor that controls cranial bone development and osteogenic differentiation. Previously, it was demonstrated that various microRNAs (miRNAs) play important roles in osteogenesis and regulate the complex process of osteogenic differentiation. However, it remains unclear how miRNA expression changes during Foxc1-promoted osteogenic differentiation. In this study, we successfully overexpressed the Foxc1 gene in MC3T3-E1 cells and investigated the alterations in the miRNA expression profile on day 3 after osteogenic induction by using a miRNA microarray. Nine downregulated miRNAs and eight upregulated miRNAs were found to be differentially expressed. Among these miRNAs, miR-103-3p was consistently downregulated in the Foxc1-overexpressing MC3T3-E1 cells and was identified as a negative regulator of osteogenic differentiation by using a gain- and lose-of-function assay. The special AT-rich sequence-binding protein 2 (Satb2), a pivotal osteogenic transcription factor, was identified as the miR-103-3p targeting gene and was verified by real-time polymerase chain reaction, western blot analysis, and luciferase assay. Overexpression of miR-103-3p markedly inhibited the expression of Satb2 and attenuated Foxc1-promoted osteogenic differentiation. Taken together, our results elucidated the miRNA expression profiles of MC3T3-E1 cells in the early stage of Foxc1-promoted osteogenic differentiation and suggested that miR-103-3p acts as a negative regulator of the osteogenic differentiation of MC3T3-E1 cells by directly targeting Satb2.

Cell Differentiation/genetics , Forkhead Transcription Factors/genetics , Gene Expression Regulation , Matrix Attachment Region Binding Proteins/genetics , MicroRNAs/genetics , Osteogenesis/genetics , Transcription Factors/genetics , Animals , Cell Line , Forkhead Transcription Factors/metabolism , Gene Expression Profiling/methods , Matrix Attachment Region Binding Proteins/metabolism , Mice , Osteoblasts/cytology , Osteoblasts/metabolism , Transcription Factors/metabolism
Huan Jing Ke Xue ; 38(5): 2052-2058, 2017 May 08.
Article Zh | MEDLINE | ID: mdl-29965113

Immobilization of activated sludge was used to further remove nitrogen from secondary effluent. Intermittent sequencing batch reactor experiments were conducted to measure nitrogen removal in synthetic wastewater with initial total nitrogen concentrations (TN) of 10-45 mg·L-1 and C/N ratio of 1.78-10, and microbial community characteristic of embedding beads was investigated. When the packing ratio of embedding beads was 10%, and the temperature of wastewater, dissolved oxygen (DO), initial concentration of chemical oxygen demand (COD) were maintained at 10-15℃, 2-4 mg·L-1, and 80-100 mg·L-1, respectively, the results showed that the maximum total nitrogen removal loads ranged from 7.78 to 23.18 mg·(L·h)-1during the stable phase. SEM observations showed that the embedding beads were highly porous and microorganisms adhered to the interior and external surface of embedding beads, demonstrating that embedding beads acted as an ideal support material. Based on high-throughput sequencing analysis, the structure of microbial communities in the beads'interior and exterior changed significantly compared with embedding activated sludge. The advantage of denitrifying bacteria in embedding beads was obvious and the microbial diversity was good. Some microorganisms which can conduct both heterotrophic nitrification and aerobic denitrification, were identified. These processes may facilitate pathways for untraditional biological denitrification in the beads'interior.

Denitrification , Nitrogen/isolation & purification , Sewage/microbiology , Waste Water , Bioreactors , Nitrification