Present address: Sandor Proteomics Pvt. Ltd., Hyderabad, India.
Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India
Version of Record online: 19 JAN 2014
© 2013 Wiley Periodicals, Inc.
Journal of Cellular Biochemistry
Volume 115, Issue 3, pages 566–574, March 2014
How to Cite
Bashyam, M. D., Chaudhary, A. K., Kiran, M., Nagarajaram, H. A., Devi, R. R., Ranganath, P., Dalal, A., Bashyam, L., Gupta, N., Kabra, M., Muranjan, M., Puri, R. D., Verma, I. C., Nampoothiri, S. and Kadandale, J. S. (2014), Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India. J. Cell. Biochem., 115: 566–574. doi: 10.1002/jcb.24692
Author's contribution: M.D.B. designed the study, standardized experiments, analyzed the data, and wrote the paper; A.K.C., M.S., L.B., and J.S.K. performed the experiments and analyzed the data; H.A.N. analyzed the data and wrote the paper; R.R.D., P.R., A.D., N.G., M.K., M.M., R.D.P., I.C.V., and S.N. contributed important samples and collected and analyzed data.
- Issue online: 19 JAN 2014
- Version of Record online: 19 JAN 2014
- Accepted manuscript online: 15 OCT 2013 11:01AM EST
- Manuscript Accepted: 10 OCT 2013
- Manuscript Received: 9 SEP 2013
- Department of Biotechnology, Government of India
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|jcb24692-sm-0001-SuppFigS1.eps||8208K||Fig. S1. Previously reported PAH mutations identified in this study. For each mutation, electropherogram showing the mutant sequence is on the left and for the normal sequence is on the right; each mutation is indicated by an arrow in the electropherogram for the mutant sequence except for the c.358delT and c.558_559delAT mutations where the deleted nucleotides are indicated by an arrow and by a horizontal line, respectively, in the electropherogram for the normal sequence.|
|jcb24692-sm-0001-SuppFigS2.doc||33K||Fig. S2. Multiple sequence alignment (MSA) of human PAH with homologues from other species. The MSA was performed as described in the Materials and Methods section. Each mutated residue is indicated by an arrow. The homologues are as follows: gi|4557819|ref|NP_000268.1| Homo sapiens; gi|114646575|ref|XP_001156919.1| Pan troglodytes; gi|332241630|ref|XP_003269981.1| Nomascus leucogenys; gi|355786459|gb|EHH66642.1| Macaca fascicularis; gi|109098481|ref|XP_001094859.1| Macaca mulatta; gi|296212713|ref|XP_002752958.1| Callithrix jacchus; gi|345781140|ref|XP_532671.3| Canis lupis familiaris; gi|301759315|ref|XP_002915501.1| Ailuropoda melanoleuca; gi|149742972|ref|XP_001497778.1| Equus caballus; gi|171543886|ref|NP_032803.2| Mus musculus; gi|129975|sp|P04176.3| Rattus norvegicus; gi|354475067|ref|XP_003499751.1| Cricetulus griseus; gi|291389824|ref|XP_002711342.1| Oryctolagus cunicu; gi|344267654|ref|XP_003405681.1| Loxodonta africana; gi|114051455|ref|NP_001039523.1| Bos taurus; gi|348580699|ref|XP_003476116.1| Cavia porcellus.|
Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.