Congenital Syndactyly in Cattle: Four Novel Mutations in the Low Density Lipoprotein Receptor-related Protein 4 Gene (LRP4)

Overview

Journal BMC Genet

Publisher Biomed Central

Specialties Biotechnology
Molecular Biology

Date 2007 Feb 27

PMID 17319939

Citations 22

Authors

Cord Drogemuller

Tosso Leeb

Barbara Harlizius

Imke Tammen

Ottmar Distl

Martin Holtershinken

Arcangelo Gentile

Amandine Duchesne

Andre Eggen

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Genome-wide association and functional genomic analyses for body conformation traits in North American Holstein cattle.

Sousa Junior L, Pinto L, Cruz V, Oliveira Junior G, Oliveira H, Chud T Front Genet. 2024; 15:1478788.

PMID: 39512801 PMC: 11540798. DOI: 10.3389/fgene.2024.1478788.

Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S Genes (Basel). 2022; 13(1).

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Screening genetic diseases prevalence in Braunvieh cattle.

Zepeda-Batista J, Parra-Bracamonte G, Nunez-Dominguez R, Ramirez-Valverde R, Ruiz-Flores A Trop Anim Health Prod. 2018; 51(1):25-31.

PMID: 30014197 DOI: 10.1007/s11250-018-1655-y.

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Sukenik Halevy R, Chien H, Heinz B, Bamshad M, Nickerson D, Kircher M Hum Mutat. 2018; 39(6):811-815.

PMID: 29524275 PMC: 5992059. DOI: 10.1002/humu.23417.

Genetic Overview of Syndactyly and Polydactyly.

Ahmed H, Akbari H, Emami A, Akbari M Plast Reconstr Surg Glob Open. 2017; 5(11):e1549.

PMID: 29263957 PMC: 5732663. DOI: 10.1097/GOX.0000000000001549.

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