Literature DB >> 11024296

Structure, chromosomal localization, and expression of the Drosophila melanogaster gene encoding sepiapterin reductase.

C Seong1, K Baek, J Yoon.   

Abstract

We have isolated and characterized a Drosophila melanogaster gene encoding the sepiapterin reductase (SR). The gene does not have introns. The 5'- and 3'-RACE analysis, which determined the transcription start point (tsp) and polyadenylation site, respectively, showed that the gene produces single mRNA species. The potential promoter region lacks distinct TATAAA or CCAAT box consensus sequences. RNA blot analysis revealed that the gene encodes a 1.4kb transcript that could be detected throughout development and in both heads and bodies of adults. The Drosophila SR gene maps to 15A on the X chromosome.

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Year:  2000        PMID: 11024296     DOI: 10.1016/s0378-1119(00)00314-0

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  1 in total

1.  Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Authors:  L Bonafé; B Thöny; J M Penzien; B Czarnecki; N Blau
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

  1 in total

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