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1.
Chinese Journal of Medical Genetics ; (6): 92-95, 2023.
Article Dans Chinois | WPRIM | ID: wpr-970885

Résumé

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).@*METHODS@#DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.@*CONCLUSION@#The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.


Sujets)
Humains , Enfant , Syndrome de Pallister-Hall/génétique , Facteurs de transcription Krüppel-like/génétique , Protéine à doigts de zinc Gli3/génétique , Polydactylie/génétique , Hamartomes/anatomopathologie , Protéines de tissu nerveux/génétique
2.
Chinese Journal of Medical Genetics ; (6): 490-493, 2017.
Article Dans Chinois | WPRIM | ID: wpr-335098

Résumé

<p><b>OBJECTIVE</b>To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.</p><p><b>CONCLUSION</b>The c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.</p>


Sujets)
Adolescent , Adulte , Femelle , Humains , Mâle , Adulte d'âge moyen , Séquence d'acides aminés , Mutation , Génétique , Protéines de tissu nerveux , Génétique , Pedigree , Syndactylie , Génétique , Protéine à doigts de zinc Gli3 , Génétique
3.
Biomedical and Environmental Sciences ; (12): 594-598, 2016.
Article Dans Anglais | WPRIM | ID: wpr-296563

Résumé

We used Smo siRNA to inhibit hedgehog signaling pathway in embryonic day (E) 13 palatal shelves in organ culture. SiRNA 4 was chosen as the most efficient from four synthesized Smo siRNAs. Palatal shelf fusion rate of 4 μg/mL cyclopamine group was the lowest and significantly lower than that of blank control group (P<0.05), and that of siRNA 4 group was also lower than that of blank control group (P=0.183). At 48 h after transfection, Smo protein level of siRNA 4 group was 64.8% lower than that of blank control group (P<0.05), and Gli1 protein level of 4 μg/mL cyclopamine group was 68.9% lower than that of blank control group (P<0.05). Hedgehog signaling pathway inhibition decreased palatal fusion in organ culture, probably owing to downregulation of Smo and Gli1 proteins.


Sujets)
Animaux , Souris , Protéines Hedgehog , Génétique , Métabolisme , Facteurs de transcription Krüppel-like , Génétique , Métabolisme , Protéines de tissu nerveux , Génétique , Métabolisme , Palais , Embryologie , Métabolisme , Petit ARN interférent , Génétique , Métabolisme , Transduction du signal , Protéine à doigts de zinc Gli2 , Protéine à doigts de zinc Gli3
4.
Journal of Southern Medical University ; (12): 1057-1061, 2013.
Article Dans Chinois | WPRIM | ID: wpr-319479

Résumé

<p><b>OBJECTIVE</b>To investigate the possible biological function and mechanism of miR-143 in the metastasis of human nasopharyngeal carcinoma (NPC).</p><p><b>METHODS</b>Using bioinformatics to predict the target gene of miR-143, the 3'UTR and mutant 3'UTR of GLI3 gene was cloned into psiCHECK-2 vector. Dual-luciferase reporter gene assay was employed to examine the repression of the GLI3 gene. miR-143 and GLI3 expression levels in 5-8F cells transfected with miR-143 mimics, inhibitor, or siGLI3 were examined, and the changes in the cell migration ability was assessed by Transwell invasion assay.</p><p><b>RESULTS</b>Bioinformatics prediction indicated the Hh pathway transcription gene GLI3 as a target gene of miR-143, and dual-luciferase reporter assay showed that miR-143 directly combined with the 3'UTR of GLI3. qRT-PCR and Western blotting demonstrated that the expression of miR-143 in 5-8F cells was negatively correlated to GLI3 and suppressed the migration of 5-8F cells.</p><p><b>CONCLUSION</b>MiR-143 can inhibit the invasion of NPC cells by negative regulation of GLI3 gene, which sheds light on the role of miR-143 and Hh pathway in NPC.</p>


Sujets)
Humains , Carcinomes , Lignée cellulaire tumorale , Mouvement cellulaire , Génétique , Prolifération cellulaire , Régulation de l'expression des gènes tumoraux , Gènes rapporteurs , Facteurs de transcription Krüppel-like , Génétique , microARN , Génétique , Tumeurs du rhinopharynx , Génétique , Anatomopathologie , Protéines de tissu nerveux , Génétique , Protéine à doigts de zinc Gli3
5.
Chinese Journal of Medical Genetics ; (6): 260-265, 2012.
Article Dans Chinois | WPRIM | ID: wpr-295498

Résumé

<p><b>OBJECTIVE</b>To investigate the relationship between GLI3 gene and pathogenesis of idiopathic congenital talipes equinovarus (ICTEV).</p><p><b>METHOD</b>Potential mutations in the coding region of GLI3 were detected among 84 patients with ICTEV by denaturing gradient electrophoresis. Expression of GLI3 in the ICTEV patients' disease tissues was assessed by reverse transcription PCR. Following generation of rat model for ICTEV, mRNA and protein levels of GLI3 were evaluated by real-time PCR and immunohistochemistry and Western blotting.</p><p><b>RESULTS</b>No mutation was found in exons 1 - 8 and 13 of GLI3 gene among the 84 ICTEV patients. No expression of GLI3 gene was detected in the flexor hallucis longus of ICTEV patients or normal controls. Expression of Gli3, in terms of both mRNA and protein, was stronger in the hindlimb of ICTEV rat embryos compared with normal controls.</p><p><b>CONCLUSION</b>Mutation in the coding region of GLI3 may not be responsible for the occurrence of ICTEV. However, there may still be connection between abnormal expression of the gene and pathogenesis of ICTEV.</p>


Sujets)
Animaux , Humains , Rats , Pied bot varus équin congénital , Génétique , Métabolisme , Anatomopathologie , Expression des gènes , Prédisposition génétique à une maladie , Facteurs de transcription Krüppel-like , Génétique , Mutation , Protéines de tissu nerveux , Génétique , Rat Wistar , Protéine à doigts de zinc Gli3
6.
Chinese Journal of Medical Genetics ; (6): 537-541, 2012.
Article Dans Chinois | WPRIM | ID: wpr-232261

Résumé

<p><b>OBJECTIVE</b>To investigate the mechanism of transcription regulation of GLI3 gene in idiopathic congenital talipes equinovarus.</p><p><b>METHODS</b>pGL3-Gli3 luciferase report vectors were constructed, and the activity of Gli3 promoter was explored. A P-Match software was used to analyze the sequence upstream of the transcription start site of rat Gli3 gene, which was subsequently verified with chromatin immunoprecipitation assay (CHIP) and electrophoretic mobility shift assay (EMSA). Expression of the Gli3 gene was analyzed in L6 cells transfected with Hoxd13 small interference RNA(siRNA) and Hoxd13 expression vectors.</p><p><b>RESULTS</b>The 5' region of rat Gli3 gene contains two potential binding sites for the Hoxd13 protein. CHIP and EMSA assays both confirmed that Hoxd13 can directly bind with site 2. As shown in L6 cells, expression of Gli3 may be enhanced with silencing of Hoxd13, whilst exogenous expression of Hoxd13 can down-regulate transcription of Gli3.</p><p><b>CONCLUSION</b>Hoxd13 can directly regulate the expression of Gli3 gene through a Hoxd13 binding site in the limb of rat embryo.</p>


Sujets)
Animaux , Rats , Séquence nucléotidique , Pied bot varus équin congénital , Génétique , Régulation de l'expression des gènes , Protéines à homéodomaine , Génétique , Facteurs de transcription Krüppel-like , Génétique , Données de séquences moléculaires , Rat Wistar , Facteurs de transcription , Génétique , Transcription génétique , Protéine à doigts de zinc Gli3
7.
Chinese Journal of Biotechnology ; (12): 750-753, 2004.
Article Dans Chinois | WPRIM | ID: wpr-249941

Résumé

Dishevelled proteins are multifunctional and highly conserved. These proteins are also required for the specification of cell fate and polarity by secreted Wnt proteins. To investigate the molecular mechanism of Dishevelled in mediating Wnt signal transduction, a mouse 11.5dpc embryo library was screened by yeast-two-hybrid system to find mouse Dishevelled2 DEP domain and C-terminal interacting proteins. 15 possitive clones were identified from 4.1 x 10(6) transformants. The DNA sequences of the positive AD/library plasmids were determined. The BLAST results revealed that one of the positive clones contained N-terminus cDNA fragments (amino acids 6-122) of Gli3 protein. The interaction between Dv12 and Gli3 detected by yeast two-hybrid system suggests that Gli3 might play a role in some biological processes with Dishevelled.


Sujets)
Animaux , Souris , Protéines adaptatrices de la transduction du signal , Chimie , Génétique , Physiologie , Protéines Dishevelled , Banque de gènes , Facteurs de transcription Krüppel-like , Physiologie , Protéines de tissu nerveux , Physiologie , Phosphoprotéines , Chimie , Génétique , Physiologie , Plasmides , Transduction du signal , Techniques de double hybride , Protéines de type Wingless , Physiologie , Protéine à doigts de zinc Gli3
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