TY  - JOUR
A1  - Lee, Young-Lim
A1  - Bouwman, Aniek C.
A1  - Harland, Chad
A1  - Bosse, Mirte
A1  - Costa Monteiro Moreira, 
Gabriel
A1  - Veerkamp, Roel F.
A1  - Mullaart, Erik
A1  - Cambisano, Nadine
A1  - Groenen, Martien A.M.
A1  - Karim, Latifa
A1  - Coppieters, Wouter
A1  - Georges, Michel
A1  - Charlier, Carole
T1  - The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome
Y1  - 2023/09/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1455 
EP  - 1464 
DO  - 10.1101/gr.277884.123 
VL  - 33 
IS  - 9 
UR  - http://genome.cshlp.org/content/33/9/1455.abstract 
N2  - 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. 
ER  -