OMIA 001128-9823 : Pale soft exudative meat in Sus scrofa

In other species: chicken , turkey

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Cross-species summary: PSE

Mapping: Duan et al. (2009) mapped a quantitative trait loci (QTL) for glycolytic potential on chromosome 3 in a White Duroc × Erhualian F2 intercross.

Molecular basis: Ma et al. (2014) “performed a systems genetic analysis to identify the causal variant underlying the [glycolytic potential] 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. …. 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 glycolytic potential and a decrease of>20% in water-holding capacity of pork.”

Liu et al. (2019) investigated the occurrence of pale, soft and exudative meat in Luchuan X Duroc pigs. After excluding the well-known mutations in RYR1 and PRKAG3 they identified that the PHKG1 splice variant identified by Ma et al. (2014) caused PSE meat in this crossbred population.

Prevalence: Ma et al. (2014): “The unfavorable allele exists predominantly in Duroc-derived pigs.”

Breed: Duroc.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PHKG1 phosphorylase kinase, gamma 1 (muscle) Sus scrofa 3 NC_010445.4 (16822042..16831054) PHKG1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Duroc Pale soft exudative meat PHKG1 splicing Sscrofa11.1 3 g.16830320C>A Ma et al. 2014: "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" rs330928088 rs330928088 2014 25340394

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Liu, Y., Liu, Y., Ma, T., Long, H., Niu, L., Zhang, X., Lei, Y., Wang, L., Chen, Y., Wang, Q., Zheng, Z., Xu, X. :
A splicing mutation in PHKG1 decreased its expression in skeletal muscle and caused PSE meat in Duroc × Luchuan crossbred pigs. Anim Genet 50:395-398, 2019. Pubmed reference: 31179574. DOI: 10.1111/age.12807.
2014 Ma, J., Yang, J., Zhou, L., Ren, J., Liu, X., Zhang, H., Yang, B., Zhang, Z., Ma, H., Xie, X., Xing, Y., Guo, Y., Huang, L. :
A splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscle. PLoS Genet 10:e1004710, 2014. Pubmed reference: 25340394. DOI: 10.1371/journal.pgen.1004710.
2009 Duan, Y.Y., Ma, J.W., Yuan, F., Huang, L.B., Yang, K.X., Xie, J.P., Wu, G.Z., Huang, L.S. :
Genome-wide identification of quantitative trait loci for pork temperature, pH decline, and glycolytic potential in a large-scale White Duroc x Chinese Erhualian resource population. J Anim Sci 87:9-16, 2009. Pubmed reference: 18791141. DOI: 10.2527/jas.2008-1128.

Edit History


  • Created by Frank Nicholas on 19 Sep 2019
  • Changed by Frank Nicholas on 19 Sep 2019
  • Changed by Frank Nicholas on 20 Sep 2019
  • Changed by Frank Nicholas on 23 Sep 2019
  • Changed by Imke Tammen2 on 23 Feb 2021