Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
Open accessAbstract
BACKGROUND: Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds. RESULTS: We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families. CONCLUSION: We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of syndactyly.
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Lrp4 is not absolutely required for neuromuscular junction development in humans and cattle.
“but intriguingly not in humans [86] and cattle [91]”
From ApoE, ApoE Receptors, and the Synapse in Alzheimer's Disease (2017) · cites this paper as [91]
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- Authors
- Drögemüller, C., Leeb, T., Harlizius, B., Tammen, I., Distl, O., Höltershinken, M., Gentile, A., Duchesne, A., & Eggen, A.
- Affiliations
- University of Bern (CH)
- University of Veterinary Medicine Hannover, Foundation (DE)
- The University of Sydney (AU)
- University of Bologna (IT)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- Corresponding author
- Drögemüller, Cord
- ORCID
- Venue
- BMC Genetics
- Published
- 2007-02-23
- Volume
- 8
- Issue
- 1
- Pages
- 5-5
- ISSN
- 1471-2156 (ISSN-L)
- PMC
- PMC1810560
- OpenAlex
- W1659065067
- Cited by
- 60
- References
- 24
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2022: 1 · 2021: 5 · 2019: 3 · 2018: 4 · 2017: 4 · 2016: 2 · 2015: 5 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 4.72
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- BMC Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- BORIS (University Library Bern) (submittedVersion, cc-by)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Open Access CRIS of the University of Bern
- Funders
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- congenital syndactyly, cattle, Holstein cows, missense mutations, allelic heterogeneity, autosomal recessive inheritance, conserved domains
- MeSH terms
- Amino Acid Sequence, Animals, Breeding, Cattle, Cattle Diseases, Codon, Crosses, Genetic, DNA Mutational Analysis, Female, Male, Molecular Sequence Data, Pedigree, Receptors, LDL, Species Specificity, Syndactyly, Sequence Alignment, Sequence Homology, Amino Acid, Protein Structure, Tertiary, Mutation, Missense
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