[en] Assisted reproductive technologies (ARTs), including in vitro maturation and fertilization (IVF), are increasingly used in human and animal reproduction. Whether these technologies directly affect the rate of de novo mutation (DNM), and to what extent, has been a matter of debate. Here we take advantage of domestic cattle, characterized by complex pedigrees that are ideally suited to detect DNMs and by the systematic use of ART, to study the rate of de novo structural variation (dnSV) in this species and how it is impacted by IVF. By exploiting features of associated de novo point mutations (dnPMs) and dnSVs in clustered DNMs, we provide strong evidence that (1) IVF increases the rate of dnSV approximately fivefold, and (2) the corresponding mutations occur during the very early stages of embryonic development (one- and two-cell stage), yet primarily affect the paternal genome.
Disciplines :
Genetics & genetic processes
Author, co-author :
Lee, Young Lim ; Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA) ; Wageningen University and Research, Animal Breeding, and Genomics, 6708 WG Wageningen, The Netherlands
Bouwman, Aniek C; Wageningen University and Research, Animal Breeding, and Genomics, 6708 WG Wageningen, The Netherlands
Harland, Chad ; Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA) > GIGA-R : Génomique animale ; Livestock Improvement Corporation, Hamilton 3240, New Zealand
Bosse, Mirte; Wageningen University and Research, Animal Breeding, and Genomics, 6708 WG Wageningen, The Netherlands
Costa Monteiro Moreira, Gabriel ; Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA)
Veerkamp, Roel F; Wageningen University and Research, Animal Breeding, and Genomics, 6708 WG Wageningen, The Netherlands
Mullaart, Erik; CRV B.V., 6842 BD Arnhem, The Netherlands
CAMBISANO, Nadine ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Groenen, Martien A M; Wageningen University and Research, Animal Breeding, and Genomics, 6708 WG Wageningen, The Netherlands
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