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Syndrome of arachnomelia in Simmental cattle.

Buitkamp J, Luntz B, Emmerling R, Reichenbach HD, Weppert M, Schade B, Meier N, Götz KU - BMC Vet. Res. (2008)

Bottom Line: The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease.It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder.The mutation became relatively widespread amongst the current population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Bavarian State Research Center for Agriculture, Institute of Animal Breeding, 85580 Grub, Germany. Johannes.Buitkamp@lfl.bayern.de

ABSTRACT

Background: The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964-1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease.

Results: The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%.

Conclusion: We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.

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Allelic frequency and number of confirmed cases of AS. The allelic frequency of the AS carriers in the living cows of the breeding population is shown per year (blue line). The lower line (red) shows the frequency estimation based on ROMEL and his progeny (including females, ignoring other carriers). The number of pathologically confirmed cases per year is shown by bars.
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Figure 1: Allelic frequency and number of confirmed cases of AS. The allelic frequency of the AS carriers in the living cows of the breeding population is shown per year (blue line). The lower line (red) shows the frequency estimation based on ROMEL and his progeny (including females, ignoring other carriers). The number of pathologically confirmed cases per year is shown by bars.

Mentions: The geographical origins of the cases were the southern part of Germany and Austria, reflecting the regional distribution of the Simmental breed. Both sexes were equally represented in the 152 (80 male, 72 female, χ2 = 0.21, p = 0.64) affected calves. The largest number of cases was registered in 2006 (Figure 1). In retrospect, it could be shown that the main reason for the rapid increase of cases in the years 2005 and 2006 was the high popularity of certain sires carrying the AS mutation (ROMEL, ISO-Nr. 276000911043667, born in 1995; EGEL, 276000915512806, 1985; REXON, 276000913008210, 1989). The latter two sires represent the key-nodes of the pedigree pathways of the mutation from the founder into the current population (Figure 2). ROMEL, for example, sired more than 40,000 cows 4 to 6 years ago. Furthermore, 115 sons of ROMEL born from 2001 to 2005 are registered and listed in the breeding database [7]. These progeny were now mated to ROMEL and sons or grandsons of EGEL and REXON resulting in a high probability for the occurrence of affected calves. Increasing awareness of the disease and abandoning of selling the semen from carriers led to a sharp drop of cases in 2007. The disease was successfully managed by efficient collaboration of the Institute for Animal Breeding of the Bavarian State Research Centre for Agriculture (LfL), the Landeskuratorium der Erzeugerringe für tierische Veredelung in Bayern e.V (LKV), the Bavarian Animal Health Service (TGD) and breeding organizations.


Syndrome of arachnomelia in Simmental cattle.

Buitkamp J, Luntz B, Emmerling R, Reichenbach HD, Weppert M, Schade B, Meier N, Götz KU - BMC Vet. Res. (2008)

Allelic frequency and number of confirmed cases of AS. The allelic frequency of the AS carriers in the living cows of the breeding population is shown per year (blue line). The lower line (red) shows the frequency estimation based on ROMEL and his progeny (including females, ignoring other carriers). The number of pathologically confirmed cases per year is shown by bars.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2567314&req=5

Figure 1: Allelic frequency and number of confirmed cases of AS. The allelic frequency of the AS carriers in the living cows of the breeding population is shown per year (blue line). The lower line (red) shows the frequency estimation based on ROMEL and his progeny (including females, ignoring other carriers). The number of pathologically confirmed cases per year is shown by bars.
Mentions: The geographical origins of the cases were the southern part of Germany and Austria, reflecting the regional distribution of the Simmental breed. Both sexes were equally represented in the 152 (80 male, 72 female, χ2 = 0.21, p = 0.64) affected calves. The largest number of cases was registered in 2006 (Figure 1). In retrospect, it could be shown that the main reason for the rapid increase of cases in the years 2005 and 2006 was the high popularity of certain sires carrying the AS mutation (ROMEL, ISO-Nr. 276000911043667, born in 1995; EGEL, 276000915512806, 1985; REXON, 276000913008210, 1989). The latter two sires represent the key-nodes of the pedigree pathways of the mutation from the founder into the current population (Figure 2). ROMEL, for example, sired more than 40,000 cows 4 to 6 years ago. Furthermore, 115 sons of ROMEL born from 2001 to 2005 are registered and listed in the breeding database [7]. These progeny were now mated to ROMEL and sons or grandsons of EGEL and REXON resulting in a high probability for the occurrence of affected calves. Increasing awareness of the disease and abandoning of selling the semen from carriers led to a sharp drop of cases in 2007. The disease was successfully managed by efficient collaboration of the Institute for Animal Breeding of the Bavarian State Research Centre for Agriculture (LfL), the Landeskuratorium der Erzeugerringe für tierische Veredelung in Bayern e.V (LKV), the Bavarian Animal Health Service (TGD) and breeding organizations.

Bottom Line: The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease.It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder.The mutation became relatively widespread amongst the current population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Bavarian State Research Center for Agriculture, Institute of Animal Breeding, 85580 Grub, Germany. Johannes.Buitkamp@lfl.bayern.de

ABSTRACT

Background: The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964-1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease.

Results: The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%.

Conclusion: We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.

Show MeSH
Related in: MedlinePlus