Fig. 3

Identification of breakpoints of CNVR_322. a Genomic structure of CNVR_322 regions (magenta lines). CNVR_322 is flanked by 63 bp same-directed sequences (blue arrows) (a1). Analysis of sequence traces from CNVR_322-detected animals identified that 63 bp reads bridging the breakpoint were present on both side of 33,934-bp flanking regions (a1, a3). Model for generation of CNVR_322 by non-allelic homologous recombination (NAHR) (a1, a2, a3). After NAHR, the resulting region contained a 63-bp sequence (a3). The positions were based on the UMD3.1 assembly of the bovine genome. b Sequence of the 63-bp flanking CNVR_322. c Genotyping test for CNVR_322 by PCR. Schematic representation of the primer position on CNVR_322. PCR amplification within and across CNVR_322 for two homozygous wild type (lanes 1, 2) and two carrier (lanes 3, 4) animals. PCR primers F_1 and R_1 are for the wild-type allele (750 bp), and PCR primers F_1 and R_2 are for the CNVR_322 allele (580 bp). M, 100 bp ladder markers