Genetic analysis of syndactyly in German Holstein cattle

Drögemüller, Cord; Distl, O.

doi:10.1016/j.tvjl.2004.09.009

Cited by 11 publications

(12 citation statements)

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“…For eight German Holstein calves the phenotypes of one to four affected feet were previously described [3]. In the three Italian cases we observed only affected front feet, a single case with an affected right forefoot (VIII-2; Figure 1A) and two cases with two variably affected forefeet (VIII-3 and 4; Figure 1A and 1B).…”

Section: Resultssupporting

confidence: 59%

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

et al. 2007

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BackgroundIsolated 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.ResultsWe 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.ConclusionWe 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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Section: Resultssupporting

confidence: 59%

“…The variable expressed syndactyly phenotype in cattle is most often seen in the front feet, but all four feet underlying a right-left and front-rear gradient may be involved [3]. The bovine syndactyly consists mainly of pairs of horizontally synostotic phalanges and adaptive structural changes develop proximal to the fused digits [2].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2007

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“…For the SNP at position 170 of ALX4 exon 2 all affected Holstein individuals were homozygous but the eight affected calves of a single German Holstein pedigree show two different genotypes ( Table 3 ). The fact Numbering refers to the previously reported pedigree (Drögemüller and Distl, 2006). that no further nucleotide differences between the affected and unaffected individuals were observed suggests that ALX4 is not the gene causing syndactyly. At this time a regulatory mutation within the ALX4 promoter or within an ALX4 intron can not be excluded.…”

Section: Mutation Analysis Of the Bovine Alx4 Genementioning

confidence: 99%

“…The PCR was performed with genomic DNA of eight syndactylous calves and 27 samples from unaffected dams, sires, and half-sibs from a single German Holstein pedigree segregating for syndactyly (Drögemüller and Distl, 2006). Additionally, three single unrelated affected German Holstein calves, a single affected German Fleckvieh calf and two unrelated crossbred calves showing syndactyly were evaluated for possible causative ALX4 polymorphisms.…”

Section: Mutation Analysismentioning

confidence: 99%

The bovine aristaless-like homeobox 4 <i>(ALX4)</i> as a candidate gene for syndactyly

Wöhlke

Kuiper

Distl

et al. 2006

Cytogenet Genome Res

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The ALX4 (aristaless-like homeobox 4) gene encodes a paired-type homeodomain transcriptional activator and plays a major role in anterior-posterior pattern formation during limb development. Here, the cloning, genomic structure and expression of the bovine ortholog of the ALX4 gene are reported. The bovine ALX4 gene consists of four exons and is located on BTA15q28→q29 in a region syntenic to HSA11p11.2. The transcribed ALX4 mRNA encodes a 397-amino-acid protein showing a paired-type homeodomain and a C-terminal stretch of amino acids known as the OAR- or aristaless domain. The predicted protein shares 92.5% identity to human and mouse ALX4 proteins and all three species share almost complete identity in the conserved domains. ALX4 expression was detected by reverse transcriptase polymerase chain reaction in bovine fetal limb bones. The ALX4 gene was evaluated as a candidate gene for bovine syndactyly which has been mapped on the telomeric region of cattle chromosome 15. Sequencing of the four exons with flanking sequences of the bovine ALX4 gene from a panel of 14 affected animals belonging to German Holstein, German Fleckvieh and crossbreds, and 27 unaffected individuals from German Holstein revealed five silent SNPs within the coding region out of eleven SNPs in total. Four SNPs were polymorphic in the affected animals, but in comparison to the genotyped unaffected individuals the genotype distribution showed no evidence for an association to the phenotype. Therefore our data indicate that the ALX4 gene can probably be excluded as candidate gene for bovine syndactyly in the examined animals.

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“…Sires have previously been genotyped by test breeding and progeny examination (124,140). Initial studies mapped the syndactyly locus to chromosome 15 (52,69). Recent studies in Holstein and Angus cattle have demonstrated several mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4) impairing its function in distal limb development (72,74,141).…”

Section: Syndactylismmentioning

confidence: 99%

Inherited Disorders in Danish Cattle

Agerholm¹

2007

Apmis

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Genetic analysis of syndactyly in German Holstein cattle

Cited by 11 publications

References 9 publications

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

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

The bovine aristaless-like homeobox 4 <i>(ALX4)</i> as a candidate gene for syndactyly

Inherited Disorders in Danish Cattle

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