Staff Publications

Staff Publications

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    'Staff publications' is the digital repository of Wageningen University & Research

    'Staff publications' contains references to publications authored by Wageningen University staff from 1976 onward.

    Publications authored by the staff of the Research Institutes are available from 1995 onwards.

    Full text documents are added when available. The database is updated daily and currently holds about 240,000 items, of which 72,000 in open access.

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Record number 550073
Title Loss of function mutations in essential genes cause embryonic lethality in pigs
Author(s) Derks, Martijn F.L.; Gjuvsland, Arne B.; Bosse, Mirte; Lopes, Marcos S.; Son, Maren van; Harlizius, Barbara; Tan, Beatrice F.; Hamland, Hanne; Grindflek, Eli; Groenen, Martien A.M.; Megens, Hendrik Jan
Source Plos Genetics 15 (2019)3. - ISSN 1553-7404 - p. e1008055 - e1008055.
Department(s) Animal Breeding and Genomics
Mathematical and Statistical Methods - Biometris
Publication type Refereed Article in a scientific journal
Publication year 2019

Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common ancestor. In this study we report five relatively common (up to 13.4% carrier frequency) recessive lethal haplotypes in two commercial pig populations. The lethal haplotypes have a large effect on carrier-by-carrier matings, decreasing litter sizes by 15.1 to 21.6%. The causal mutations are of different type including two splice-site variants (affecting POLR1B and TADA2A genes), one frameshift (URB1), and one missense (PNKP) variant, resulting in a complete loss-of-function of these essential genes. The recessive lethal alleles affect up to 2.9% of the litters within a single population and are responsible for the death of 0.52% of the total population of embryos. Moreover, we provide compelling evidence that the identified embryonic lethal alleles contribute to the observed heterosis effect for fertility (i.e. larger litters in crossbred offspring). Together, this work marks specific recessive lethal variation describing its functional consequences at the molecular, phenotypic, and population level, providing a unique model to better understand fertility and heterosis in livestock.

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