LAUSR

Background: In higher eukaryotes, impaired ribosome biogenesis and function can result in specific phenotypes, the so-called ribosomopathies. In humans at least six ribosomopathies have been described, i.e. Diamond–Blackfan anemia (DBA), 5q-syndrome, Shwachman–Diamond syndrome, X-linked dyskeratosis congenita, Treacher Collins syndrome and cartilage hair hypoplasia. DBA belongs to a rare group of disorders known as inherited bone marrow failure syndromes. DBA7 is caused by variants of the 60S ribosomal protein L11 gene (uL5, formerly RPL11). 6 So far naturally occurring uL5 defects have only been described in humans. Owing to the role of uL5 in ribosome biogenesis and its association with fatal ribosomopathies, we addressed the question whether lethal uL5 variants exist in cattle. Several deleterious variants have been identified, including a 2 bp deletion resulting in a frameshift and premature stop (ENSBTAG00000020905: g.129,195,922_129,195,923del; ARS-UCD1.2; rs38157 6999). To monitor this variant a probe located on BTA2 between positions 129 195 924 and 129 195 973 (ARS-