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Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in

Heather A Adams1, Tad S Sonstegard2, Paul M VanRaden2

  • 1Department of Animal Sciences, University of Illinois at Urbana-Champaign, Urbana 61801; Institute for Genomic Biology, University of Illinois at Urbana-Champaign, Urbana 61801.

Journal of Dairy Science
|June 13, 2016
PubMed
Summary

A nonsense mutation in the APAF1 gene (apoptotic protease activating factor 1) causes spontaneous abortions in Holstein cattle. This genetic defect, linked to the HH1 haplotype, has led to significant economic losses but is now being eliminated through selective breeding.

Keywords:
APAF1dairy cattlenonsense mutationresequencing

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Area of Science:

  • Animal Genetics
  • Reproductive Biology
  • Molecular Biology

Background:

  • The HH1 haplotype in Holstein cattle is associated with reduced conception rates and a deficit of homozygotes.
  • This haplotype traces back to a single influential bull, Pawnee Farm Arlinda Chief, born in 1962.

Purpose of the Study:

  • To identify the genetic cause of the HH1 haplotype's negative reproductive effects.
  • To investigate the impact of a specific mutation on fertility and population health in Holstein cattle.

Main Methods:

  • Whole-genome resequencing of the founding bull and sons to identify mutations within the HH1 haplotype.
  • Screening and commercial genotyping of large Holstein cattle populations to determine mutation frequency.
  • Functional analysis in mice to understand the role of the Apaf1 gene in apoptosis and development.

Main Results:

  • A nonsense mutation (APAF1 p.Q579X) in the APAF1 gene was identified within the HH1 haplotype.
  • This mutation truncates a significant portion of the APAF1 protein, crucial for apoptotic pathways.
  • Genotyping revealed 5,299 heterozygotes and zero homozygotes in over 246,000 cattle, indicating lethality in homozygous individuals.
  • The mutation is estimated to have caused 525,000 spontaneous abortions globally, resulting in substantial economic losses.

Conclusions:

  • The APAF1 p.Q579X mutation is the causative agent for the HH1 haplotype's reproductive issues and is functionally equivalent to an Apaf1 knockout.
  • Selective breeding programs have successfully reduced the carrier frequency of this deleterious allele from 8% to 2%.