Fig 1.
Karyotype of the balanced reciprocal translocation t(3;4)(p1.3;q1.5).
(a): G-band karyotype obtained from a LW female, heterozygous for the translocation. The breakpoint positions on SSC3 and SSC4 are indicated with arrows. (b): Schematic representation of SSC3 and SSC4 pairs including one normal SSC3 or SSC4 chromosome (N) and one translocated chromosome der(3) or der(4).
Table 1.
Results obtained by PCR-screening of each hybrid clone with microsatellite markers.
Fig 2.
Fluorescent in situ hybridization of the pIRS-PCR probe, derived from hybrid Hb1.8, on normal pig metaphase chromosomes.
pIRS-PCR products label the entire length of chromosomes 1, 8, 10, 16, X, and partially chromosomes 3, 4 and 5. Chromosomes 3 and 4 are indicated with yellow and blue arrows respectively (a), and are magnified in (b). On these two chromosomes, signals are observed on the p arm for SSC3 and in the p15-q22 region for SSC4, confirming the presence of the translocated derivative chromosome der(4) in Hb1.8 hybrid clone.
Fig 3.
Map of the SSC3 region containing the breakpoint.
All the markers (microsatellites, SNPs and STS) used in each round of PCR amplification are indicated on the map corresponding to the 22–32 Mb interval (a) or on a zoom of the 23.80–23.87 Mb interval (b). The successive batches of STS are indicated by a number in brackets following the STS names. Screening results obtained for each marker on Hb1.8 are represented by colors (yellow: positive, grey: negative). The smallest interval on the SSC3 map is highlighted in white and the names of the two adjacent STS are indicated in bold.
Fig 4.
Map of the SSC4 region containing the breakpoint.
All the markers (microsatellites, SNPs and STS) used in each round of PCR amplification are indicated on the map corresponding to the 106.5–120.5 Mb interval (a) or on a zoom of the 107.80–107.96 Mb interval (b). The successive batches of STS are indicated by a number in brackets following the STS names. Screening results obtained for each marker on Hb1.8 are represented by colors (blue: positive, grey: negative). The smallest interval on the SSC4 map is highlighted in white and the names of the two adjacent STS are indicated in bold.
Fig 5.
Distribution of discordant mate-pairs linking SSC3 to SSC4.
Each circle represents a single mate-pair with one read mapped to SSC3 (x-axis) and the other read mapped to SSC4 (y-axis). In total, more than 12,000 mate-pairs link the two chromosomes, underlining the high background noise due to false-positive discordant mate-pairs. The dark green circle, where the two dashed lines cross, highlights a concentration of mate-pairs linking the two regions involved in the translocation.