Chromosomal structural anomaly, translocation, reciprocal

Phene ID

4969

Name

Chromosomal structural anomaly, translocation, reciprocal

Phene Name

N/A

OMIA ID

2558

Species ID

9913

Characterised

Yes

Characterised Year

N/A

Besnard et al. (2023) monitored “sire-family calf mortality within the French and Walloon Holstein populations, and to use this information to detect genetic defects that might have been overlooked by lack of specific symptoms. … After outlining the 5 worst bulls per category, we paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping, genetic mapping, and whole-genome sequencing, we described 2 new independent genetic defects in their progeny and their molecular etiology. Mo was found to carry a de novo reciprocal translocation between chromosomes BTA26 and BTA29, leading to increased embryonic and juvenile mortality because of aneuploidy. Clinical examination of 2 calves that were monosomic for a large proportion of BTA29, including an orthologous segment deleted in human Jacobsen syndrome, revealed symptoms shared between species.”

Besnard et al. (2023) "observed a reciprocal translocation between chromosomes BTA26 and BTA29 in Mo [t(26;29)(q11;q19). ... [the authors] demonstrated that 2 affected daughters of Mo with DNA samples available were monosomic for approximately the first 70% of BTA29 ... . Interestingly, comparative genomics revealed synteny between part of the hemizygous region and the monosomy of the telomeric region of chromosome 11q responsible for Jacobsen syndrome."