title: Arachnomelia in Brown Swiss cattle maps to chromosome 5.
abstract: Arachnomelia in Brown Swiss cattle is a monogenic autosomal recessive inherited congenital disorder of the skeletal system giving affected calves a spidery look (OMIA ID 000059). Over a period of 20 years 15 cases were sampled in the Swiss and Italian Brown cattle population. Pedigree data revealed that all affected individuals trace back to a single acknowledged carrier founder sire. A genome scan using 240 microsatellites spanning the 29 bovine autosomes showed homozygosity at three adjacent microsatellite markers on bovine Chr 5 in all cases. Linkage analysis confirmed the localization of the arachnomelia mutation in the region of the marker ETH10. Fine-mapping and haplotype analysis using a total of 34 markers in this region refined the critical region of the arachnomelia locus to a 7.19-Mb interval on bovine Chr 5. The disease-associated IBD haplotype was shared by 36 proven carrier animals and allows marker-assisted selection. As the corresponding human and mouse chromosome segments do not contain any clear functional candidate genes for this disorder, the mutation causing arachnomelia in the Brown Swiss cattle might help to identify an unknown gene in bone development.
authors.affiliation: Institute of Genetics, University of Berne, Bremgartenstrasse 109a, 3001, Berne, Switzerland. cord.droegemueller@itz.unibe.ch
authors.forename: Cord
authors.initials: C
authors.lastname: Drögemüller
authors.forename: Marco
authors.initials: M
authors.lastname: Rossi
authors.forename: Arcangelo
authors.initials: A
authors.lastname: Gentile
authors.forename: Stefania
authors.initials: S
authors.lastname: Testoni
authors.forename: Hannes
authors.initials: H
authors.lastname: Jörg
authors.forename: Gerald
authors.initials: G
authors.lastname: Stranzinger
authors.forename: Michaela
authors.initials: M
authors.lastname: Drögemüller
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Glowatzki-Mullis
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
mesh_terms: D000818:Animals; D001848:Bone Diseases, Developmental / Q000151:congenital / Q000235:genetics* / Q000662:veterinary; D002417:Cattle / Q000235:genetics*; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian; D005838:Genotype; D006579:Heterozygote; D010375:Pedigree