Publication Type : Journal Article
Publisher : Molecular Genetics and Metabolism
Source : Molecular Genetics and Metabolism, Volume 100, Number 1, p.96-99 (2010)
Url : http://www.scopus.com/inward/record.url?eid=2-s2.0-77950517652&partnerID=40&md5=b40d2aec388339df6c1abb15960eddd1
Keywords : 3' untranslated region, adolescent, adult, article, child, clinical article, consensus sequence, controlled study, female, gene deletion, gene mutation, human, Humans, India, male, messenger RNA, Mutation, phenylalanine, phenylalanine 4 monooxygenase, Phenylalanine Hydroxylase, phenylketonuria, Phenylketonurias, Preschool, priority journal, RNA Splice Sites, Sequence Deletion, tyrosine
Campus : Amritapuri
School : School of Business
Department : Department of Management
Year : 2010
Abstract : Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3′ UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3′ splice site mutation c.168-2AG resulted in the activation of a cryptic 3′ splice site that generated a premature termination codon leading to very low levels of the mutant transcript, probably due to activation of the nonsense-mediated decay (NMD) pathway. This is probably the first report of PKU caused by the activation of NMD. © 2010 Elsevier Inc. All rights reserved.
Cite this Research Publication : M. Da Bashyam, Chaudhary, A. Ka, Reddy, E. Ca, Devi, A. RbRama, Savithri, G. Rac, Ratheesh, Ra, Bashyam, Lb, Mahesh, Ea, Sen, Da, Puri, Rd, Verma, I. Cd, Nampoothiri, Se, Vaidyanathan, Se, Chandrashekar, M. Df, and Kantheti, Pf, “Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA”, Molecular Genetics and Metabolism, vol. 100, pp. 96-99, 2010.