posted on 2015-07-23, 03:17authored byLeonardo Murgiano, Vera Shirokova, Monika Maria Welle, Vidhya Jagannathan, Philippe Plattet, Anna Oevermann, Aldona Pienkowska-Schelling, Daniele Gallo, Arcangelo Gentile, Marja Mikkola, Cord Drögemüller
(A) Family tree of four affected females (black symbols). The males are indicated by squares, the females by circles. Deduced X chromosome haplotypes are shown colored below the individuals. Y chromosomes are shown in grey. Note the red haplotype spanning the entire chromosome X is shared by all the affected animals. In one of the two non-affected male offspring of case 1, a recombinant haplotype was detected which helped to exclude the proximal part of the X chromosome. The position of both genes (TSR2 and ERCC6L) containing disease-associated variants are shown. (B) Genome regions showing positive LOD scores in linkage analysis are shown in orange.