ArticlePLoS genetics2013
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.PLoS genetics · 2015Pooled it
- Article
- Exome sequencing identifies variants in infants with sacral agenesis.Birth defects research · 2022Article
- KRAB-zinc finger protein gene expansion in response to active retrotransposons in the murine lineage.eLife · 2020Article
- A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.Frontiers in pediatrics · 2020Article
- Two linked TBXT (brachyury) gene polymorphisms are associated with the tailless phenotype in fat-rumped sheep.Animal genetics · 2019Article
- Transcription factor Ptf1a in development, diseases and reprogramming.Cellular and molecular life sciences : CMLS · 2019Review
- Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.Human molecular genetics · 2019Article
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Pediatric nephrology (Berlin, Germany) · 2016Review
- Nxf1 natural variant E610G is a semi-dominant suppressor of IAP-induced RNA processing defects.PLoS genetics · 2015Article
- Article
- Retrotransposon activates ectopic Ptf1 expression: a short tail.PLoS genetics · 2013Article
- A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.PLoS genetics · 2013Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation syndromes including urorectal septum malformation, caudal regression, VACTERL association, and persistent cloaca. The Sd mutation was previously mapped to a 0.9 cM region on mouse chromosome 2qA3. We performed Sanger sequencing of exons and intron/exon boundaries mapping to the Sd critical region and did not identify any mutations. We then performed DNA enrichment/capture followed by next-generation sequencing (NGS) of the critical genomic region. Standard bioinformatic analysis of paired-end sequence data did not reveal any causative mutations. Interrogation of reads that had been discarded because only a single end mapped correctly to the Sd locus identified an early transposon (ETn) retroviral insertion at the Sd locus, located 12.5 kb upstream of the Ptf1a gene. We show that Ptf1a expression is significantly upregulated in Sd mutant embryos at E9.5. The identification of the Sd mutation will lead to improved understanding of the developmental pathways that are misregulated in human caudal malformation syndromes.
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