Mapping and characterization of the causative mutation for PMS syndrome.

<p>(A) and (B) Results of Mendelian error mapping using the Illumina 50 K and 777 K SNP beadchips, respectively. Markers displaying Mendelian errors between at least one PMS heifer and her sire are represented in purple whereas markers for which at least one of the three PMS animals is heterozygous are represented in blue. Other markers are not represented. (C) Plot of the whole-genome sequencing read depth coverage on the same region. *: artifact due to a local error in genome assembly. (D) Gene content of the region. (E) FISH-mapping with BAC clones located in the deleted region (labeled in red) and in the juxtacentromeric region of BTA2 (labeled in green) on fibroblasts of a PMS animal. (F) Magnification of (E) showing normal (above) and deleted (below) BTA2 chromosomes. (G) Genotyping of PMS using a three-primer PCR system (see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0049084#s3" target="_blank">methods</a>). Neg.: negative control.