A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.

Maya HiltpoldFredi JanettXena Marie MapelNaveen Kumar KadriZih-Hua FangHermann SchwarzenbacherFranz R SeefriedMirjam SpengelerUlrich WitschiHubert Pausch

Published in: Genetics, selection, evolution : GSE (2022)

A recessive loss-of-function allele of the bovine QRICH2 gene likely causes low sperm concentration and immotile sperm with multiple morphological abnormalities. Routine sperm analyses unambiguously identify homozygous bulls for this allele. A direct gene test can be implemented to monitor the frequency of the undesired allele in cattle populations.

Keyphrases

copy number
gene expression
clinical practice
genome wide identification
dna methylation
transcription factor
peripheral blood