ArticleNucleic acids research2004
Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.
Article in Nucleic acids research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 24 citations in OpenAlex.
- Cyclic hematopoiesis in a mixed-breed dog: case report and brief review.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022Review
- The prognostic value of β-catenin and LEF-1 expression in patients with operable gastric carcinoma.American journal of translational research · 2016Article
- Lost in transcription: transient errors in information transfer.Current opinion in microbiology · 2015Review
- Heritable change caused by transient transcription errors.PLoS genetics · 2013Article
- Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.PloS one · 2012Article
- Identification and quantification of full-length BK channel variants in the developing mouse cochlea.Journal of neuroscience research · 2011Article
- LEF-1 and TCF4 expression correlate inversely with survival in colorectal cancer.Journal of translational medicine · 2010Article
- Nonrandom variations in human cancer ESTs indicate that mRNA heterogeneity increases during carcinogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Review
- Transcriptional slippage in bacteria: distribution in sequenced genomes and utilization in IS element gene expression.Genome biology · 2005Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Canine cyclic neutropenia is an autosomal recessive disease in which the number of neutrophils, the primary blood phagocyte, oscillates between almost zero and normal values with two week frequency. We previously found that the causative mutation is an insertion of an extra adenine residue within a tract of nine A's in exon 21 of the 27 exon canine AP3B1 gene. In the course of identifying the mutation, however, we observed an unusual phenomenon: heterozygous carrier dogs, who have one normal allele and one mutant allele, produce a homogeneous population of normal AP3B1 transcripts (containing nine A's), but homozygous affected dogs, who have two mutant alleles, produce a heterogeneous population of AP3B1 mRNA containing mutant transcripts with ten A's and, unexpectedly, wild-type transcripts with nine A's. By RT-PCR subclone analysis and use of an in vitro reporter assay, we show that there is a high frequency of errors made during the transcription of homopolymeric adenine sequences, such that the A tract in the mRNA is frequently shortened or lengthened by an extra residue. Out of frame transcripts are degraded, accounting for this paradox through the preferential accumulation of normal message from mutant alleles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.