The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome

Young Lim Lee; Aniek C. Bouwman; Chad Harland; Mirte Bosse; Gabriel Costa Monteiro Moreira; Roel F. Veerkamp; Erik Mullaart; Nadine Cambisano; Martien A.M. Groenen; Latifa Karim; Wouter Coppieters; Michel Georges; Carole Charlier

doi:10.1101/gr.277884.123

The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome

Young Lim Lee^*, Aniek C. Bouwman, Chad Harland, Mirte Bosse, Gabriel Costa Monteiro Moreira, Roel F. Veerkamp, Erik Mullaart, Nadine Cambisano, Martien A.M. Groenen, Latifa Karim, Wouter Coppieters, Michel Georges^*, Carole Charlier^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1455-1464
Number of pages	10
Journal	Genome Research
Volume	33
Issue number	9
DOIs	https://doi.org/10.1101/gr.277884.123
Publication status	Published - 4 Oct 2023

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10.1101/gr.277884.123Licence: CC BY-NC

https://edepot.wur.nl/641524Licence: CC BY-NC

BovReg: BovReg - Identification of functionally active genomic features relevant to phenotypic diversity and plasticity in cattle
1/09/19 → 29/02/24
Project: EU research project
AF-16022 Breed4Food II (BO-63-001-009, BO-47-001-021, BO-22.04-025-001, BO-22.04-011-001, BO-22.02-011-001)
Veerkamp, R. (Project Leader)
1/01/14 → 31/12/21
Project: LVVN project

Cite this

Lee, Y. L., Bouwman, A. C., Harland, C., Bosse, M., Moreira, G. C. M., Veerkamp, R. F., Mullaart, E., Cambisano, N., Groenen, M. A. M., Karim, L., Coppieters, W., Georges, M., & Charlier, C. (2023). The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome. Genome Research, 33(9), 1455-1464. https://doi.org/10.1101/gr.277884.123

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title = "The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome",

abstract = "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.",

author = "Lee, {Young Lim} and Bouwman, {Aniek C.} and Chad Harland and Mirte Bosse and Moreira, {Gabriel Costa Monteiro} and Veerkamp, {Roel F.} and Erik Mullaart and Nadine Cambisano and Groenen, {Martien A.M.} and Latifa Karim and Wouter Coppieters and Michel Georges and Carole Charlier",

year = "2023",

month = oct,

day = "4",

doi = "10.1101/gr.277884.123",

language = "English",

volume = "33",

pages = "1455--1464",

journal = "Genome Research",

issn = "1088-9051",

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Lee, YL, Bouwman, AC, Harland, C, Bosse, M, Moreira, GCM, Veerkamp, RF, Mullaart, E, Cambisano, N, Groenen, MAM, Karim, L, Coppieters, W, Georges, M & Charlier, C 2023, 'The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome', Genome Research, vol. 33, no. 9, pp. 1455-1464. https://doi.org/10.1101/gr.277884.123

TY - JOUR

T1 - The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome

AU - Lee, Young Lim

AU - Bouwman, Aniek C.

AU - Harland, Chad

AU - Bosse, Mirte

AU - Moreira, Gabriel Costa Monteiro

AU - Veerkamp, Roel F.

AU - Mullaart, Erik

AU - Cambisano, Nadine

AU - Groenen, Martien A.M.

AU - Karim, Latifa

AU - Coppieters, Wouter

AU - Georges, Michel

AU - Charlier, Carole

PY - 2023/10/4

Y1 - 2023/10/4

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.

AB - 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.

U2 - 10.1101/gr.277884.123

DO - 10.1101/gr.277884.123

M3 - Article

C2 - 37793781

AN - SCOPUS:85174543558

SN - 1088-9051

VL - 33

SP - 1455

EP - 1464

JO - Genome Research

JF - Genome Research

IS - 9

ER -

The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome

Abstract

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Projects

BovReg: BovReg - Identification of functionally active genomic features relevant to phenotypic diversity and plasticity in cattle

AF-16022 Breed4Food II (BO-63-001-009, BO-47-001-021, BO-22.04-025-001, BO-22.04-011-001, BO-22.02-011-001)

Cite this