Categories: Haematopoietic system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Markers: Noting that mutations in the RPL11 gene (also known as ul5) result in Diamond-Blackfan anaemia 7 in humans, Zhang et al. (2020) searched for lethal RPL11 variants in cattle. Specifically, they searched for "a 2 bp deletion resulting in a frameshift and premature stop (ENSBTAG00000020905:g.129,195,922_129,195,923del; ARS‐UCD1.2; rs381576999)", a probe for which "has been included as an expert‐selected marker in the custom add‐on part of the BovineLD BeadChip". In a multi-breed panel of 370,527 cattle, the authors found "299 218 homozygous wt and 71 249 apparently heterozygous cattle but no homozygous carriers [i.e. homozygotes for the deletion]". However, the authors noted that "the BeadChip probe matches almost perfectly (49/50 nucleotides) to a processed uL5 pseudogene on BTA18 (LOC112442347; position 54 982 088–54 982 687)." The authors provided a cautionary tale in their conclusion "that there is currently no evidence for the existence of the rs381576999 indel in the functional uL5 gene . . . [but] . . . the deletion has been fixed in the pseudogene, but is not scored reliably in the BovineLD BeadChip assay. These data demonstrate how pseudogenes interfere with the scoring of high‐throughput genotyping platforms and that bead‐arrays are not suitable for assaying polymorphisms in sequences that are not single‐copy. "

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing