To assess the candidacy of other mutations at this locus, we then conducted genome sequencing of the two founder sires. Filtering all previously unobserved variants assuming a dominant, heterozygous genetic model yielded only seven variants chromosome wide, only one of which mapped to exonic sequence, being the same PRL mutation discovered using our candidate led approach (Supplementary Table 2).Figure 2: Mapping and bioinformatic characterization of PRL and PRLR mutations.(a) Manhattan plot showing the hairy locus on chromosome 23, with significance plotted on the y axis, and chromosome number and position indicated on the x axis. (c) ClustalW alignment showing conservation of the prolactin Cys221 residue in five vertebrates, and in human placental lactogen and growth hormone (residues coloured by polarity).
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