ArticlePLoS genetics2014
A splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscle.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.
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Who cites it
72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 157 citations in OpenAlex.
- A meta-analysis of genome-wide association studies revealed significant QTL and candidate genes for loin muscle area in three breeding pigs.Scientific reports · 2025Pooled it
- Meta-analysis of genome-wide association studies for loin muscle area and loin muscle depth in two Duroc pig populations.PloS one · 2019Pooled it
- Imputed whole genome sequence based association pinpoints genetic architecture of labour dystocia of pigs using multi-breed populations.Genetics, selection, evolution : GSE · 2026Article
- Integrated Transcriptomic and Metabolomic Analysis RevealsFoods (Basel, Switzerland) · 2025Article
- Integrative analysis of genome and transcriptome reveals a novel regulator for pork intramuscular fat content.Genetics, selection, evolution : GSE · 2025Article
- Article
- Identification of Gene Expression and Splicing QTLs in Porcine Muscle Associated with Meat Quality Traits.Animals : an open access journal from MDPI · 2025Article
- Chromosome-Level Genome Assembly of the Meishan Pig and Insights into Its Domestication Mechanisms.Animals : an open access journal from MDPI · 2025Article
- Identification of new candidate genes affecting drip loss in pigs based on genomics and transcriptomics data.Journal of animal science · 2025Article
- Construction of the porcine genome mobile element variations and investigation of its role in population diversity and gene expression.Journal of animal science and biotechnology · 2024Article
- Protein phosphatase 1 catalytic subunit gamma is a causative gene for meat lightness and redness.PLoS genetics · 2024Article
- Identification of Single Nucleotide Polymorphisms Through Genome-Wide Association Studies of pH Traits in Goose Meat.Biology · 2024Article
- CREB-regulated transcription during glycogen synthesis in astrocytes.Scientific reports · 2024Article
- Expression genome-wide association study identifies key regulatory variants enriched with metabolic and immune functions in four porcine tissues.BMC genomics · 2024Article
- Proteomic Analysis Reveals the Effects of Different Dietary Protein Levels on Growth and Development of Jersey-Yak.Animals : an open access journal from MDPI · 2024Article
- Integration of transcriptome and machine learning to identify the potential key genes and regulatory networks affecting drip loss in pork.Journal of animal science · 2024Article
- Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs.BMC genomics · 2023Article
- An Analysis of a Transposable Element Expression Atlas during 27 Developmental Stages in Porcine Skeletal Muscle: Unveiling Molecular Insights into Pork Production Traits.Animals : an open access journal from MDPI · 2023Article
- Genome-wide association studies to identify quantitative trait loci and positional candidate genes affecting meat quality-related traits in pigs.Journal of animal science and technology · 2023Article
- The Role ofInternational journal of molecular sciences · 2023Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycolytic potential (GP) in skeletal muscle is economically important in the pig industry because of its effect on pork processing yield. We have previously mapped a major quantitative trait loci (QTL) for GP on chromosome 3 in a White Duroc × Erhualian F2 intercross. We herein performed a systems genetic analysis to identify the causal variant underlying the phenotype QTL (pQTL). We first conducted genome-wide association analyses in the F2 intercross and an F19 Sutai pig population. The QTL was then refined to an 180-kb interval based on the 2-LOD drop method. We then performed expression QTL (eQTL) mapping using muscle transcriptome data from 497 F2 animals. Within the QTL interval, only one gene (PHKG1) has a cis-eQTL that was colocolizated with pQTL peaked at the same SNP. The PHKG1 gene encodes a catalytic subunit of the phosphorylase kinase (PhK), which functions in the cascade activation of glycogen breakdown. Deep sequencing of PHKG1 revealed a point mutation (C>A) in a splice acceptor site of intron 9, resulting in a 32-bp deletion in the open reading frame and generating a premature stop codon. The aberrant transcript induces nonsense-mediated decay, leading to lower protein level and weaker enzymatic activity in affected animals. The mutation causes an increase of 43% in GP and a decrease of>20% in water-holding capacity of pork. These effects were consistent across the F2 and Sutai populations, as well as Duroc × (Landrace × Yorkshire) hybrid pigs. The unfavorable allele exists predominantly in Duroc-derived pigs. The findings provide new insights into understanding risk factors affecting glucose metabolism, and would greatly contribute to the genetic improvement of meat quality in Duroc related pigs.
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