Functional analysis of the 5′ regulatory region and the UUG translation initiation codon of the Arthrobacter oxidans 6-hydroxy-d-nicotine oxidase gene

1990 ◽  
Vol 221 (3) ◽  
pp. 427-434 ◽  
Author(s):  
Ludwig Mauch ◽  
Veronika Bichler ◽  
Roderich Brandsch
Keyword(s):  
Functional Analysis ◽  
Translation Initiation ◽  
Regulatory Region ◽  
Initiation Codon ◽  
Oxidase Gene ◽  
Arthrobacter Oxidans ◽  
Translation Initiation Codon

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria

1999 ◽  
Vol 24 (4) ◽  
pp. 296-301 ◽  
Author(s):  
Frank ◽  
McGrath ◽  
Poh-Fitzpatrick ◽  
Hawk ◽  
Christiano
Keyword(s):  
Translation Initiation ◽  
Initiation Codon ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria ◽  
Translation Initiation Codon

scholarly journals The Role of eIF1 in Translation Initiation Codon Selection in Caenorhabditiselegans

Genetics ◽  
2010 ◽  
Vol 186 (4) ◽  
pp. 1187-1196 ◽  
Author(s):  
Lisa L. Maduzia ◽  
Anais Moreau ◽  
Nausicaa Poullet ◽  
Sebastien Chaffre ◽  
Yinhua Zhang
Keyword(s):  
Translation Initiation ◽  
Initiation Codon ◽  
Translation Initiation Codon ◽  
Codon Selection

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)

Hemoglobin ◽  
2016 ◽  
Vol 40 (5) ◽  
pp. 369-370 ◽  
Author(s):  
John S. Waye ◽  
Barry Eng ◽  
Meredith Hanna ◽  
Betty-Ann Hohenadel ◽  
Lisa Nakamura ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Novel Mutation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Translation Initiation Codon

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

1994 ◽  
Vol 4 (1) ◽  
pp. 73-75 ◽  
Author(s):  
Seiichi Tsujino ◽  
Laurence A. Rubin ◽  
Sara Shanske ◽  
Salvatore DiMauro
Keyword(s):  
Translation Initiation ◽  
Initiation Codon ◽  
Mcardle's Disease ◽  
Mcardle’S Disease ◽  
Translation Initiation Codon

Loss of the Gata1 Gene IE Exon Leads to Variant Transcript Expression and the Production of GATA1 Protein Lacking the N-Terminal Domain.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3648-3648
Author(s):  
Eri Kobayashi ◽  
Ritsuko Shimizu ◽  
Yuko Kikuchi ◽  
Satoru Takahashi ◽  
Masayuki Yamamoto
Keyword(s):  
Gene Expression ◽  
Translation Initiation ◽  
Knockout Mice ◽  
Conflicts Of Interest ◽  
Hematopoietic Cells ◽  
Full Length ◽  
Initiation Codon ◽  
Severe Thrombocytopenia ◽  
Exon 2 ◽  
Translation Initiation Codon

Abstract Abstract 3648 Poster Board III-584 GATA1 is a transcription factor essential for the differentiation of erythroid cells and megakaryocytes. Since GATA1 regulates genes related to the survival, proliferation and differentiation of hematopoietic cells, regulation of the Gata1 gene expression is critically important for the understanding of hematopoiesis. The Gata1 locus contains multiple untranslated first exons plus five common coding exons. Of these first exons, erythroid first exon (IE exon) is important for the Gata1 gene expression in the hematopoietic lineages. However, due to the embryonic lethality of this IE exon knockdown mice, less is understood about the contribution of the IE exon to adult hematopoiesis. Here, we achieved specific deletion of the IE exon in adulthood by crossing the IE-floxed mice with the interferon-inducible Mx1-Cre transgenic mice. This conditional IE-deletion mouse (ΔIE mouse) showed severe thrombocytopenia with increased premature megakaryocytes similarly to the phenotypes reported in the conditional Gata1 knockout mice in which the entire Gata1 gene was deleted in adulthood. In addition, the ΔIE mice showed severe anemia with skewed erythroid maturation, and importantly this erythroid phenotypes substantially differed from those observed in the conditional Gata1 knockout mice. Further analyses revealed that the Gata1 mRNA level in the megakaryocytic lineage was significantly downregulated. By contrast, in the erythroid lineage, Gata1 mRNA was retained at a comparable level to that in control mice utilizing two alternative first exons; one was the IEb/c, which was previously reported as a first exon rarely used in hematopoietic cells, and the other was newly identified IEd exon located within the second intron. Surprisingly, in the ΔIE mice these transcripts failed to produce full-length GATA1 protein, but instead inefficiently yielded GATA1 lacking the N-terminal 83 amino acids. This form of GATA1 is often observed in Down syndrome-associated transient myeloproliferative disorder and acute megakaryoblastic leukemia. Of note, the transcript derived from exon IEb/c preserved the first translation initiation codon in exon 2 but lost the potential to select the first translation initiation codon or failed to produce full-length GATA1. The present study demonstrates that the IE exon is instrumental to adult erythropoiesis by regulating the proper level of transcription and by selecting the correct translation start site for production of adequate full-length GATA1 protein. Disclosures: No relevant conflicts of interest to declare.

scholarly journals β-Spectrin Promissão: A Translation Initiation Codon Mutation of the β-Spectrin Gene (ATG → GTG) Associated With Hereditary Spherocytosis and Spectrin Deficiency in a Brazilian Family

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 368-369 ◽  
Author(s):  
Daniela S. Bassères ◽  
Dilmara L. Vicentim ◽  
Fernando F. Costa ◽  
Sara T.O. Saad ◽  
Hani Hassoun
Keyword(s):  
Translation Initiation ◽  
Hereditary Spherocytosis ◽  
Initiation Codon ◽  
Translation Initiation Codon ◽  
Codon Mutation
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