Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome

PLoS Genetics
Martijn F L DerksHendrik-Jan Megens

Abstract

Livestock populations can be used to study recessive defects caused by deleterious alleles. The frequency of deleterious alleles including recessive lethal alleles can stay at high or moderate frequency within a population, especially if recessive lethal alleles exhibit an advantage for favourable traits in heterozygotes. In this study, we report such a recessive lethal deletion of 212kb (del) within the BBS9 gene in a breeding population of pigs. The deletion produces a truncated BBS9 protein expected to cause a complete loss-of-function, and we find a reduction of approximately 20% on the total number of piglets born from carrier by carrier matings. Homozygous del/del animals die mid- to late-gestation, as observed from high increase in numbers of mummified piglets resulting from carrier-by-carrier crosses. The moderate 10.8% carrier frequency (5.4% allele frequency) in this pig population suggests an advantage on a favourable trait in heterozygotes. Indeed, heterozygous carriers exhibit increased growth rate, an important selection trait in pig breeding. Increased growth and appetite together with a lower birth weight for carriers of the BBS9 null allele in pigs is analogous to the phenotype described in human and mouse for ...Continue Reading

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Citations

Apr 9, 2020·Journal of Animal Science·Ignacy MisztalAndres Legarra
Aug 19, 2020·Journal of Animal Science·Barbara HarliziusEgbert F Knol
Aug 25, 2020·BMC Genomics·Aniek C BouwmanRoel F Veerkamp
Mar 16, 2019·PLoS Genetics·Martijn F L DerksHendrik-Jan Megens

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Datasets Mentioned

BETA
E-MTAB-2633

Methods Mentioned

BETA
Genotyping
RNA-seq
ChipSeq
chip
PCR
X-ray

Software Mentioned

JBrowse
MEM
R
Stats
Quantstudio Design & Analysis
kit learn Python
Samtools
PyVCF
SIFT
BWA

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