Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

08 May 2018 : Clinical Research  

Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population

Jia ChenABCDEF, Xiaoxin LiBCDEF, Yuchen NiuBCDEF, Zhihong WuABCDEG, Guixing QiuABCDEFG

DOI: 10.12659/MSM.910232

Med Sci Monit 2018; 24: CLR2992-3001

Abstract

BACKGROUND: The present study aimed to evaluate the pathogenicity of 5 GDF3 gene variations using functional and in silico assessment approaches in a Chinese congenital scoliosis population.

MATERIAL AND METHODS: We selected 13 patients carrying 5 variants from a congenital scoliosis cohort. The PCR products of samples were verified by Sanger sequencing. The data and sequence alignment were analyzed using Chromas and ClustalW. SIFT and PolyPhen-2 were used to predict the functional effects of each missense and amino acid substitutions. SWISS-MODEL server and Swiss-PdbViewer were used to analyze conformational changes of GDF3 structure. DUET, UCSF Chimera, and Ligplot software were used to further explore the protein stability, side chains, and hydrophobic interaction changes, respectively. Luciferase reporter gene and Western blot assays were used to perform functional assessments for every variant from the molecular level.

RESULTS: Of the 13 patients, the S212L variant reoccurred in 9 patients. The rest of the patients carried 1 missense mutation each. The variants of R84L and R84C were predicted as probably damaging loci. S212L, N215S, A251T were predicted as benign loci. In functional assays, R84L, S212L, and A251T display inhibitory effects on functional assays. N251S mutation showed a negative effect in protein expression assays but not in luciferase reporter gene assays. The variant of R84C displayed no negative effects on 2 functional assays.

CONCLUSIONS: Our results suggest that the 4 of the 5 variants in GDF3 gene contribute different pathogenicity in congenital scoliosis, which may provide molecular evidence for clinical genetic testing.

Keywords: Computer Simulation, genetic variation, Growth Differentiation Factor 3, Molecular Biology, Scoliosis, Transforming Growth Factor beta

0 Comments

Editorial

01 December 2021 : Editorial  

Editorial: SARS-CoV-2 Vaccine Responses and Breakthrough COVID-19

Dinah V. Parums
Scientific Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.935624

Med Sci Monit 2021; 27:e935624

SARS-CoV-2/COVID-19

08 November 2021 : Database Analysis  

Virtual Screening and Molecular Docking to Study the Mechanism of Chinese Medicines in the Treatment of Cor...

Med Sci Monit In Press; DOI: 10.12659/MSM.934102  

01 December 2021 : Editorial  

Editorial: SARS-CoV-2 Vaccine Responses and Breakthrough COVID-19

Med Sci Monit 2021; 27:e935624

25 November 2021 : Clinical Research  

Use of Monoclonal Antibodies Therapy for Treatment of Mild to Moderate COVID-19 in 4 Patients with Rheumato...

Med Sci Monit 2021; 27:e934267

In Press

02 Dec 2021 : Clinical Research  

Comparison of Outcomes Following Neuronavigation-Assisted Aspiration and Thrombolysis Using Single and Mult...

Med Sci Monit In Press; DOI: 10.12659/MSM.934935  

02 Dec 2021 : Clinical Research  

Serum Levels of N-Terminal Pro-Brain Natriuretic Peptide in Gestational Hypertension, Mild Preeclampsia, an...

Med Sci Monit In Press; DOI: 10.12659/MSM.934285  

29 Nov 2021 : Database Analysis  

Integrated Analysis of Angiogenesis-Mediated Tumor Immune Microenvironment Pattern in Hepatocellular Carcin...

Med Sci Monit In Press; DOI: 10.12659/MSM.934937  

26 Nov 2021 : Clinical Research  

Serum Uric Acid Levels in Relation to Atrial Fibrillation: A Case-Control Study

Med Sci Monit In Press; DOI: 10.12659/MSM.934007  

Most Viewed Current Articles

20 Mar 2020 : Clinical Research  

Social Capital and Sleep Quality in Individuals Who Self-Isolated for 14 Days During the Coronavirus Diseas...

DOI :10.12659/MSM.923921

Med Sci Monit 2020; 26:e923921

15 Apr 2020 : Clinical Research  

Psychological Impact and Coping Strategies of Frontline Medical Staff in Hunan Between January and March 20...

DOI :10.12659/MSM.924171

Med Sci Monit 2020; 26:e924171

05 May 2020 : Review article  

An Evidence Based Perspective on mRNA-SARS-CoV-2 Vaccine Development

DOI :10.12659/MSM.924700

Med Sci Monit 2020; 26:e924700

26 Apr 2020 : Clinical Research  

Comparison of Prevalence and Associated Factors of Anxiety and Depression Among People Affected by versus P...

DOI :10.12659/MSM.924609

Med Sci Monit 2020; 26:e924609

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750