Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

Drögemüller, Cord; Leeb, Tosso; Harlizius, Barbara; Tammen, Imke; Distl, Ottmar; Höltershinken, Martin; Gentile, Arcangelo; Duchesne, Amandine; Eggen, André (2007). Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC genetics, 8, p. 5. London: BioMed Central 10.1186/1471-2156-8-5

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics

UniBE Contributor:

Drögemüller, Cord and Leeb, Tosso

ISSN:

1471-2156

Publisher:

BioMed Central

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:52

Last Modified:

11 Dec 2014 05:45

Publisher DOI:

10.1186/1471-2156-8-5

PubMed ID:

17319939

Web of Science ID:

000244936800001

BORIS DOI:

10.7892/boris.22142

URI:

https://boris.unibe.ch/id/eprint/22142 (FactScience: 32028)

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