Document Detail

Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle.
MedLine Citation:
PMID:  19519792     Owner:  NLM     Status:  MEDLINE    
Arachnomelia syndrome is a lethal inherited malformation mainly of the limbs, vertebral column and skull in cattle, which poses a severe impairment to farmers and breeders. Recently, a number of cases of arachnomelia syndrome have occurred in the Simmental breed and some sires with excellent breeding values had been shown to be carriers of the disease. We herein report the genetic mapping of the mutation underlying arachnomelia in cattle. The disease was mapped using a two-stage genome scan. A first round autosomal genome-wide screening using a limited number of cases identified three chromosomal regions with lod-scores > 1. The position of the arachnomelia syndrome locus was identified to be on BTA 23 by genotyping an additional, independent set of animals with markers that provided positive lod-scores in the course of the initial genome-wide screen. Using a denser set of regional microsatellites, the locus could be mapped to a region about 9 cM in length. The most significant linkage signal with arachnomelia syndrome was obtained with marker NRKM-17 (lod-score > 20) using a recessive model. Interestingly, different genes seem to be responsible for the disease in Brown Swiss and Simmental breeds, as arachnomelia syndrome was mapped to a different location in Brown Swiss. The results provide sufficient information for the development of a genetic test system and also allow the identification of positional candidate genes.
J Buitkamp; C Kühn; J Semmer; K-U Götz
Publication Detail:
Type:  Journal Article     Date:  2009-06-05
Journal Detail:
Title:  Animal genetics     Volume:  40     ISSN:  1365-2052     ISO Abbreviation:  Anim. Genet.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2010-07-05     Completed Date:  2010-08-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8605704     Medline TA:  Anim Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  894-9     Citation Subset:  IM    
Bavarian State Research Center for Agriculture, Institute for Animal Breeding, 85586 Grub, Germany.
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MeSH Terms
Bone Diseases, Developmental / genetics,  veterinary*
Cattle Diseases / genetics*
Chromosome Mapping*
Chromosomes, Mammalian
Genome-Wide Association Study

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