ArticlePloS one2014
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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21 citing papers in PubMed, 44 citations in OpenAlex.
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- Evaluating regional heritability mapping methods for identifying QTLs in a wild population of Soay sheep.Heredity · 2025Article
- Genetic Diversity, Admixture, and Selection Signatures in a Rarámuri Criollo Cattle Population Introduced to the Southwestern United States.International journal of molecular sciences · 2025Article
- Genome-Wide Analysis of Milk Production Traits and Selection Signatures in Serbian Holstein-Friesian Cattle.Animals : an open access journal from MDPI · 2024Article
- Mapping restricted introgression across the genomes of admixed indigenous African cattle breeds.Genetics, selection, evolution : GSE · 2023Article
- Elevated WNT signaling and compromised Hedgehog signaling due toFrontiers in dental medicine · 2022Article
- Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.Journal of developmental biology · 2020Review
- Resurrecting Darwin's Niata - anatomical, biomechanical, genetic, and morphometric studies of morphological novelty in cattle.Scientific reports · 2018Article
- A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.Frontiers in physiology · 2018Article
- The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.Anatomical record (Hoboken, N.J. : 2007) · 2018Article
- Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.Journal of dental research · 2017Article
- Genetic disorders in beef cattle: a review.Genes & genomics · 2017Review
- A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.BMC veterinary research · 2016Article
- Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.PLoS genetics · 2016Article
- Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.Archives of oral biology · 2016Article
- A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.Genetics, selection, evolution : GSE · 2016Article
- A Review of Selected Genes with Known Effects on Performance and Health of Cattle.Frontiers in veterinary science · 2016Review
- Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation.Genesis (New York, N.Y. : 2000) · 2015Article
- DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.BMC veterinary research · 2015Article
- Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene.BMC veterinary research · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle.
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