ArticleAnimal genetics2016
A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.
Article in Animal genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 84 citations in OpenAlex.
- NovelVeterinary and animal science · 2026Article
- Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Unraveling key transposable elements in pathogen-induced bovine mastitis through comparative in vivo and in vitro transcriptomic analysis.BMC genomics · 2025Article
- Impact ofVeterinary world · 2025Article
- Retrospective detection of ITGB7 gene mutation in a holstein calf with chronic diarrhea that was suspected of hereditary cholesterol deficiency.The Journal of veterinary medical science · 2025Article
- A clinical case of CACNA1S-related muscle weakness in a Holstein calf with congenital astasia diagnosed by a genotyping test of stored blood.The Journal of veterinary medical science · 2025Article
- Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective.Animals : an open access journal from MDPI · 2024Article
- Massive detection of cryptic recessive genetic defects in dairy cattle mining millions of life histories.Genome biology · 2024Article
- GWAS reveals determinants of mobilization rate and dynamics of an active endogenous retrovirus of cattle.Nature communications · 2024Article
- Taming transposable elements in livestock and poultry: a review of their roles and applications.Genetics, selection, evolution : GSE · 2023Review
- In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variants.Genetics, selection, evolution : GSE · 2023Review
- Optical mapping compendium of structural variants across global cattle breeds.Scientific data · 2022Article
- The Future of Biomarkers in Veterinary Medicine: Emerging Approaches and Associated Challenges.Animals : an open access journal from MDPI · 2022Review
- Ruminant-specific retrotransposons shape regulatory evolution of bovine immunity.Genome research · 2022Article
- Allele-biased expression of the bovine APOB gene associated with the cholesterol deficiency defect suggests cis-regulatory enhancer effects of the LTR retrotransposon insertion.Scientific reports · 2022Article
- Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle.Scientific reports · 2022Article
- Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.Genetics, selection, evolution : GSE · 2021Article
- Prevalence of nine genetic defects in Chinese Holstein cattle.Veterinary medicine and science · 2021Article
- PCIP-seq: simultaneous sequencing of integrated viral genomes and their insertion sites with long reads.Genome biology · 2021Article
- A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle.BMC genomics · 2021Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cholesterol deficiency, a new autosomal recessive inherited genetic defect in Holstein cattle, has been recently reported to have an influence on the rearing success of calves. The affected animals show unresponsive diarrhea accompanied by hypocholesterolemia and usually die within the first weeks or months of life. Here, we show that whole genome sequencing combined with the knowledge about the pedigree and inbreeding status of a livestock population facilitates the identification of the causative mutation. We resequenced the entire genomes of an affected calf and a healthy partially inbred male carrying one copy of the critical 2.24-Mb chromosome 11 segment in its ancestral state and one copy of the same segment with the cholesterol deficiency mutation. We detected a single structural variant, homozygous in the affected case and heterozygous in the non-affected carrier male. The genetic makeup of this key animal provides extremely strong support for the causality of this mutation. The mutation represents a 1.3kb insertion of a transposable LTR element (ERV2-1) in the coding sequence of the APOB gene, which leads to truncated transcripts and aberrant splicing. This finding was further supported by RNA sequencing of the liver transcriptome of an affected calf. The encoded apolipoprotein B is an essential apolipoprotein on chylomicrons and low-density lipoproteins, and therefore, the mutation represents a loss of function mutation similar to autosomal recessive inherited familial hypobetalipoproteinemia-1 (FHBL1) in humans. Our findings provide a direct gene test to improve selection against this deleterious mutation in Holstein cattle.
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