title: Expression profiles of HA117 and its neighboring gene DPF3 in different colon segments of Hirschsprung's disease.
abstract: Hirschsprung's disease (HSCR) is characterized by the absence of enteric ganglion cells along variable regions of the colon. Established theory demonstrates that HSCR is the consequence caused by the abnormal arrest of the migration and differentiation of neural crest-derived stem cells (NCSCs). And retinoid signaling was considered to be involved. We speculated that, HA117, a retinoid-related transcript of a long noncoding RNA (LncRNA), may be involved in the genesis of HSCR. In current research, colon specimens were collected from 25 HSCR patients and grouped into 3 segments: proximal anastomosis, dilated segment and stenotic segment. Real-Time PCR was used to analyze the expression profiles of HA117 and its neighboring gene DPF3 in different colon segments. Fluorescence in situ hybridization (FISH) was employed to detect the distribution of HA117 in the gut wall. Immunohistochemistry was performed to analyze the protein expression of DPF3 in different colon segments. HA117 expression in stenotic segment was higher compared to proximal anastomosis and dilated segment (p < 0.05). Whereas DPF3b mRNA was lower in stenotic segment than that in two other segments (p < 0.05). FISH detected HA117 was distributed in mucosa and muscle layer, mainly present in stenotic segment. Immunohistochemical staining showed that intensive DPF3 staining occurred in proximal anastomosis and the positive staining was hardly observed in stenotic segment. The results suggested that HA117 may be a factor exerting an anti-differentiation or or anti-maturation role in the genesis of HSCR. This gave us a novel cue for better understanding the etiology of HSCR.
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Hang
authors.initials: H
authors.lastname: Liu
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Shuangshuang
authors.initials: S
authors.lastname: Li
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Shiqi
authors.initials: S
authors.lastname: Wang
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders; Key Laboratory of Pediatrics in Chongqing; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University Chongqing, China ; Department of Pediatric Surgery, Children's Hospital of Chongqing Medical University Chongqing, China.
authors.forename: Xianqing
authors.initials: X
authors.lastname: Jin
mesh_terms: D002675:Child, Preschool; D003106:Colon / Q000378:metabolism* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009363:Neoplasm Proteins / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D014157:Transcription Factors / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D059467:Transcriptome
chemical_list: D004268:DNA-Binding Proteins; C452161:DPF3 protein, human; C586650:HA117 protein, human; D009363:Neoplasm Proteins; D014157:Transcription Factors
keywords: DPF3; HA117; Hirschsprung’s disease; enteric ganglion cells; long noncoding RNA