ArticlePloS one2012
A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- A single-cell transcriptomic atlas identifies key progenitor populations driving postnatal horn bud development in goats (Capra hircus).Communications biology · 2026Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- The Development of Horns in Bovidae and the Genetic Mechanisms Underpinning This Process.Biology · 2025Review
- Multiple cell types guided by neurocytes orchestrate horn bud initiation in dairy goats.Genetics, selection, evolution : GSE · 2025Article
- A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.Genetics, selection, evolution : GSE · 2025Article
- Structural variations in livestock genomes and their associations with phenotypic traits: a review.Frontiers in veterinary science · 2024Review
- Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae.Molecular biology and evolution · 2021Article
- Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report.Animals : an open access journal from MDPI · 2020Article
- Breed- and trait-specific associations define the genetic architecture of calving performance traits in cattle.Journal of animal science · 2020Article
- Are scurs in heterozygous polled (Pp) cattle a complex quantitative trait?Genetics, selection, evolution : GSE · 2020Article
- Identification of copy number variation in French dairy and beef breeds using next-generation sequencing.Genetics, selection, evolution : GSE · 2017Article
- Simultaneous introgression of three POLLED mutations into a synthetic breed of Chinese cattle.PloS one · 2017Article
- Article
- A 1.8-kb insertion in the 3'-UTR of RXFP2 is associated with polledness in sheep.Animal genetics · 2015Article
- Article
- Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds.PloS one · 2015Article
- The 80-kb DNA duplication on BTA1 is the only remaining candidate mutation for the polled phenotype of Friesian origin.Genetics, selection, evolution : GSE · 2014Article
- Independent polled mutations leading to complex gene expression differences in cattle.PloS one · 2014Article
- Article
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Authors and funding
34 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polled and Multisystemic Syndrome (PMS) is a novel developmental disorder occurring in the progeny of a single bull. Its clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and cardiac anomalies. PMS is also characterized by a deviation of the sex-ratio, suggesting male lethality during pregnancy. Using Mendelian error mapping and whole-genome sequencing, we identified a 3.7 Mb deletion on the paternal bovine chromosome 2 encompassing ARHGAP15, GTDC1 and ZEB2 genes. We then produced control and affected 90-day old fetuses to characterize this syndrome by histological and expression analyses. Compared to wild type individuals, affected animals showed a decreased expression of the three deleted genes. Based on a comparison with human Mowat-Wilson syndrome, we suggest that deletion of ZEB2, is responsible for most of the effects of the mutation. Finally sperm-FISH, embryo genotyping and analysis of reproduction records confirmed somatic mosaicism in the founder bull and male-specific lethality during the first third of gestation. In conclusion, we identified a novel locus involved in bovid horn ontogenesis and suggest that epithelial-to-mesenchymal transition plays a critical role in horn bud differentiation. We also provide new insights into the pathogenicity of ZEB2 loss of heterozygosity in bovine and humans and describe the first case of male-specific lethality associated with an autosomal locus in a non-murine mammalian species. This result sets PMS as a unique model to study sex-specific gene expression/regulation.
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