An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta zero-thalassemic phenotype. The affected family members all present hematological findings typical for beta-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A2.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajh.2830480304 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Patterns of Isoform Variation for N Gene Subgenomic mRNAs in Betacoronavirus Transcriptomes.
Viruses
December 2024
Department of Biology, Center for Computational and Integrative Biology, Rutgers University, Camden, NJ 08102, USA.
The nucleocapsid (N) protein is the most expressed protein in later stages of SARS-CoV-2 infection with several important functions. It is translated from a subgenomic mRNA (sgmRNA) formed by template switching during transcription. A recently described translation initiation site (TIS) with a CTG codon in the leader sequence (TIS-L) is out of frame with most structural and accessory genes including the N gene and may act as a translation suppressor.
View Article and Find Full Text PDFRole of Ribosomal Protein bS1 in Orthogonal mRNA Start Codon Selection.
Biochemistry
January 2025
Department of Chemistry, University of California, Berkeley, California 94720, United States.
In many bacteria, the location of the mRNA start codon is determined by a short ribosome binding site sequence that base pairs with the 3'-end of 16S rRNA (rRNA) in the 30S subunit. Many groups have changed these short sequences, termed the Shine-Dalgarno (SD) sequence in the mRNA and the anti-Shine-Dalgarno (ASD) sequence in 16S rRNA, to create "orthogonal" ribosomes to enable the synthesis of orthogonal polymers in the presence of the endogenous translation machinery. However, orthogonal ribosomes are prone to SD-independent translation.
View Article and Find Full Text PDFGenetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep.
Anim Biotechnol
December 2025
Department of Plant, Soil and Food science, University of Bari, Aldomoro, Italy.
Variation in litter size (LS) in sheep is linked to genetic factors, including the Zona pellucida-3 (ZP3) gene, which plays a role in ovine reproductive processes. This study examined the association between ZP3 gene variations and LS in Kari sheep. Two groups of 160 Kari ewes were analysed: one consistently producing singletons and another producing twins, with occasional triplets.
View Article and Find Full Text PDFEngineered initiator tRNAs can effectively start translation at non-AUG start codons and diversify N-terminal amino acids for mRNA Display.
Nucleic Acids Res
January 2025
Department of Peptide Therapeutics, Genentech, South San Francisco, CA 94080, USA.
mRNA display is an effective tool to identify high-affinity macrocyclic binders for challenging protein targets. The success of an mRNA display selection is dependent on generating highly diverse libraries with trillions of peptides. While translation elongation can canonically accommodate the 61 proteinogenic triplet codons, translation initiation is restricted to the native start codon AUG.
View Article and Find Full Text PDFA non-randomised open-label exploratory 'window of opportunity' study of TG02 treatment in patients with locally advanced primary and recurrent mutant colorectal cancer.
Heliyon
January 2025
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Australia.
Background: TG02 is a peptide-based cancer vaccine eliciting immune responses to oncogenic codon 12/13 mutations. This phase 1 clinical trial (NCT02933944) assessed the safety and immunological efficacy of TG02 adjuvanted by GM-CSF in patients with -mutant colorectal cancer.
Methods: In the interval between completing CRT and pelvic exenteration, patients with resectable mutation-positive, locally advanced primary or current colorectal cancer, received 5-6 doses of TG02/GM-CSF.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!