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Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis
Rabiya Waheed1, Mohammad Haroon Khan, Raisa Bano
1Department of Bioinformatics, Mohammad Ali Jinnah University, Islamabad, Pakistan.
Bioinformation
|May 4, 2012
Summary
Single nucleotide polymorphisms (SNPs) in the TRPS1 gene are linked to congenital hypertrichosis. Specific SNPs (rs181507248, rs146506752) alter TRPS1 protein structure and function, causing excessive hair growth.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
Background:
- Hairs are vital integumentary structures with diverse biological roles.
- Congenital hypertrichosis is characterized by excessive hair growth, often linked to genetic factors.
- TRPS1 is a transcription factor implicated in hair development and a candidate gene for hypertrichosis.
Purpose of the Study:
- To investigate the functional impact of single nucleotide polymorphisms (SNPs) in the TRPS1 gene.
- To identify specific TRPS1 SNPs associated with congenital hypertrichosis.
- To analyze the structural and physicochemical consequences of these SNPs on the TRPS1 protein.
Main Methods:
- Retrieved TRPS1 SNPs from dbSNP.
- Screened SNPs using SIFT and PolyPhen for functional impact prediction.
- Predicted and validated the tertiary structure of native TRPS1, submitting it to the Protein Model Database (PMDB ID: PM0077843).
- Performed structure-based analysis to assess SNP effects on protein structure and properties.
Main Results:
- SNPs rs181507248 and rs146506752 were predicted as damaging and intolerant by both SIFT and PolyPhen.
- The TRPS1 protein structure was successfully modeled and deposited in the Protein Model Database.
- These specific SNPs induced significant alterations in TRPS1's secondary and tertiary structures and physicochemical properties.
Conclusions:
- The identified SNPs (rs181507248, rs146506752) in the TRPS1 gene demonstrably alter protein structure and function.
- These structural and functional changes are mechanistically linked to the pathogenesis of congenital hypertrichosis.
- TRPS1 SNPs represent a significant genetic factor contributing to abnormal hair growth patterns.
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