ArticlePLoS genetics2009
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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
30 citing papers in PubMed, 45 citations in OpenAlex.
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.Human molecular genetics · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.bioRxiv : the preprint server for biology · 2025Article
- Microbiota and Transcriptomic Effects of an Essential Oil Blend and Its Delivery Route Compared to an Antibiotic Growth Promoter in Broiler Chickens.Microorganisms · 2022Article
- Is Nucleoredoxin a Master Regulator of Cellular Redox Homeostasis? Its Implication in Different Pathologies.Antioxidants (Basel, Switzerland) · 2022Review
- Reduced exploratory behavior in neuronal nucleoredoxin knockout mice.Redox biology · 2021Article
- Nucleoredoxin Knockdown in SH-SY5Y Cells Promotes Cell Renewal.Antioxidants (Basel, Switzerland) · 2021Article
- WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.Frontiers in endocrinology · 2020Review
- Sequential ALK Inhibitors Can Select for Lorlatinib-Resistant CompoundCancer discovery · 2018Article
- WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.American journal of human genetics · 2018Article
- Golgb1 regulates protein glycosylation and is crucial for mammalian palate development.Development (Cambridge, England) · 2016Article
- Generation of a Mouse Full-length Balancer with Versatile Cassette-shuttling Selection Strategy.International journal of biological sciences · 2016Article
- Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Review
- Article
- Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening.Disease models & mechanisms · 2013Article
- ENU mutagenesis reveals that Notchless homolog 1 (Drosophila) affects Cdkn1a and several members of the Wnt pathway during murine pre-implantation development.BMC genetics · 2012Article
- New insights into behaviour using mouse ENU mutagenesis.Human molecular genetics · 2012Review
- The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- High throughput sequencing approaches to mutation discovery in the mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Review
- ENU mutagenesis in mice identifies candidate genes for hypogonadism.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- Discovery Genetics - The History and Future of Spontaneous Mutation Research.Current protocols in mouse biology · 2012Article
Corrections and comments
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Authors and funding
26 authors at 5 institutions in 3 countries.
Funding
Abstract
An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for mutation identification. We re-sequenced the 14,000 annotated exons and boundaries from over 900 genes in 41 recessive mutant mouse lines that were isolated in an N-ethyl-N-nitrosourea (ENU) mutation screen targeted to mouse Chromosome 11. Fifty-nine sequence variants were identified in 55 genes from 31 mutant lines. 39% of the lesions lie in coding sequences and create primarily missense mutations. The other 61% lie in noncoding regions, many of them in highly conserved sequences. A lesion in the perinatal lethal line l11Jus13 alters a consensus splice site of nucleoredoxin (Nxn), inserting 10 amino acids into the resulting protein. We conclude that point mutations can be accurately and sensitively recovered by large-scale sequencing, and that conserved noncoding regions should be included for disease mutation identification. Only seven of the candidate genes we report have been previously targeted by mutation in mice or rats, showing that despite ongoing efforts to functionally annotate genes in the mammalian genome, an enormous gap remains between phenotype and function. Our data show that the classical positional mapping approach of disease mutation identification can be extended to large target regions using high-throughput sequencing.
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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.