Phylogenetic Analysis of the Genes Responsible for Phenylketonuria: Phenylketonuria Phylogenetic Analysis

Authors

  • Kumud Sarin
  • Shikha Pandey

Keywords:

Phenyketonuria, hyperphenylalaninemia (MHP), amino acid, PAH, QDPR, PTS, PCDB1, GCH1, phylogeny, ClustalW, MUSCLE, PHYLUM, MEGA 5.1 and BioEdit

Abstract

The aims of the research were to identify the genes responsible for phenylketonuria (PKU) and hyperphenylalaninemia (MHP).The genes have been identified and analyzed using BLAST. The gene responsible for causing phenylketonuria is PAH. It involves mutations in the phenylalanine (Phe) hydroxylase gene, which inhibits the normal metabolism of Phe due to which Phe cannot be converted to tyrosine and accumulates in the blood and other tissues. MHP is characterized by mild or high elevated levels of Phe. Severe condition of MHP leads to PKU. The genes responsible for the condition of MHP are GCH1, PCDB1, PTS and QDPR. Thus, in some way or the other these genes are also responsible for causing PKU. The phylogenetic relation of the genes responsible PKU and hyper phenylalaninemia and their variants has been established using various bioinformatics tools like ClustalW, MUSCLE, PHYLUM, MEGA 5.1 and BioEdit. This phylogenetic study has helped the authors analyze how these genes have evolved with time and what level of similarity exists between these sequences. This study paves path for the future analysis of the genes and drug designing for PKU and MHP.

 

Downloads

Published

2014-01-10

Issue

Vol. 2 No. 3 (2013)

Section

Research/Review Articles

License

Declaration and Copyright Transfer Form

(to be completed by authors)

I/ We, the undersigned author(s) of the submitted manuscript, hereby declare, that the above manuscript which is submitted for publication in the STM Journals(s), is notpublished already in part or whole (except in the form of abstract) in any journal or magazine for private or public circulation, and, is not under consideration of publication elsewhere.

  • I/We will not withdraw the manuscript after 1 week of submission as I have read the Author Guidelines and will adhere to the guidelines.
  • I/We Author(s ) have niether given nor will give this manuscript elsewhere for publishing after submitting in STM Journal(s).
  • I/ We have read the original version of the manuscript and am/ are responsible for the thought contents embodied in it. The work dealt in the manuscript is my/ our own, and my/ our individual contribution to this work is significant enough to qualify for authorship.
  • I/We also agree to the authorship of the article in the following order:

Author’s name

 

1. ________________

2. ________________

3. ________________

_______________

We  Author(s) tick this box and would request you to consider it as our signature as we agree to the terms of this Copyright Notice, which will apply to this submission if and when it is published by this journal.