Fig. 1

Identification of a candidate causal mutation at position 49,878,773 bp on BTA4. a Results of the combined linkage/linkage disequilibrium mapping approach. Colored dots indicate the positions of the six microsatellite markers (RM188, MAF50, RM067, TGLA116, BM1224, BM6458) of the indirect genetic test for Weaver syndrome. A maximum peak value (LRT = 73.9) was detected between microsatellite markers RM188 and MAF50 at position 49,812,384 bp. The 2-LOD drop-off method used to determine the corresponding confidence interval sets its boundaries at positions 49,514,652 and 50,367,484 bp. b Detailed overview of the confidence interval between 49,514,652 and 50,367,484 bp. Six genes (NRCAM, PNPLA8, NME8, SFRP4, EPDR1, STARD3NL), two novel microRNA genes (ENSBTAG00000045095, ENSBTAG00000044255) and two uncharacterized protein coding genes (ENSBTAG00000014795 and ENSBTAG00000035945) are located within this confidence interval. The vertical blue line indicates the position of the maximum peak value (LRT = 73.9, 49,812,384 bp). The vertical red line indicates the position of the candidate causal mutation at position 49,878,773 bp (rs800397662), which was identified by analyzing whole-genome sequence data. c Detailed structure of the PNPLA8 gene that carries the candidate causal mutation. Bold sections represent exons, thin sections represent introns. The vertical red line indicates the position of the candidate causal mutation. d The 41-bp DNA sequence that harbors the candidate causal mutation. Red letters between brackets represent the SNP at position 49,878,773 bp (C: reference allele, T: alternative allele)