An Overview of Pathways Network Analysis of Pendred Syndromic Genes | [Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences • 2020]

Author(s):

1. Mirza J. Hasnain: Department of Bioinformatics & Computational Biology, Virtual University of Pakistan,Pakistan

2. Muhammad U. Z. Khan: State Key Laboratory of Veterinary Etiological Biology, Key Laboratory of Veterinary Parasitology of Gansu Province, Lanzhou Veterinary Research Institute, Chinese Academy of Agricultural Sciences,Lanzhou, 730046, PR,China

3. Khizra Maqsood: Department of Bioinformatics & Computational Biology, Virtual University of Pakistan,Pakistan

4. Tahera Aslam: Department of Bioinformatics & Computational Biology, Virtual University of Pakistan,Pakistan

5. Masroor E. Babar: Department of Genetics, Virtual University of Pakistan,Pakistan

6. Shunli Yang: State Key Laboratory of Veterinary Etiological Biology, Key Laboratory of Veterinary Parasitology of Gansu Province, Lanzhou Veterinary Research Institute, Chinese Academy of Agricultural Sciences,Lanzhou, PR,China

7. Huma Sohail: Department of Bioinformatics & Computational Biology, Virtual University of Pakistan,Pakistan

8. Muhammad T. Pervez: Department of Bioinformatics & Computational Biology, Virtual University of Pakistan,Pakistan

9. Jianping Cai: State Key Laboratory of Veterinary Etiological Biology, Key Laboratory of Veterinary Parasitology of Gansu Province, Lanzhou Veterinary Research Institute, Chinese Academy of Agricultural Sciences,Lanzhou, PR,China

Abstract:

Pendred syndrome, mainly labeled as sensorineural hearing loss and goiter, is an autosomal recessive disorder that forms an association to worsen the disease severity. It is the most known and prevalent form of the audiological disease. Some studies showed that the disorder may account for almost 10% of inherited deafness. Like all other disorders, a set of genes are known to characterize the Pendred Syndrome, where each one of them is segregated with the disease according to the families they belong to. The proposed study focusing on exploring the extent of segregation of each gene that is playing a role in the disorder. SLC26, a protein family of ion transporters, is known to play a significant role in this accord. The mutations in the genes mainly SLC26A4 underlie the major anomalies and malfunctioning that characterize the Pendred Syndrome. The biological pathway analysis using different online tools and databases like Ensemble decision analysis, DAVID (Database for Annotation, Visualization, and Integrated Discovery), IPA (Ingenuity Pathway Analysis software ) was performed to see Cellular Enrichment Components and Biological Enrichment Processes followed by gene network analysis, which determines the candidate gene interactions including the ion transporter family genes that are present on the plasma membrane, out of which two genes belonged to the focused protein family SLC26. The proposed study has highlighted the central role of the SLC26 protein family in hearing impairment and hearing loss.

Page(s): 15-26

DOI: DOI not available

Published: Journal: Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences, Volume: 57, Issue: 2, Year: 2020

Keywords:

Pendred syndrome , Ingenuity Pathway Analysis software IPA , Hearing impairment , Gene network , SLC26A4 , PDS gene

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