Fine mapping of porcine SSC14 QTL and <i>SCD</i> gene effects on fatty acid composition and melting point of fat in a Duroc purebred population

Uemoto, Yoshinobu; Nakano, Hikaru; Kikuchi, Takashi; Sato, Shuji; Ishida, Masaharu; Shibata, T.; Kadowaki, Hiroshi; Kobayashi, Eiji; Suzuki, Keiichi

doi:10.1111/j.1365-2052.2011.02236.x

Cited by 36 publications

(35 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We have shown that the C-T haplotype at SNPs g.2108C>T and g.2228T>C in the promoter region of the SCD gene increases fatty acid desaturation in muscle and subcutaneous fat, in line with some previous findings in Duroc [21]. The third polymorphism screened in the promoter ( g.2281A>G ) was excluded as a causal by the results in our external validation experiment (Exp 2), where Large White × Landrace pigs were all homozygous for this SNP but still presented the same effect over the desaturation index.…”

Section: Discussionsupporting

confidence: 91%

“…However, considering the results from a Landrace × Korean native pig intercross in which these two SNPs segregated independently [22], we can conclude that fatty acid composition was associated to an haplotype comprised, in its 5′ extreme, not beyond the g.2109 position and, in its 3′ end, not past the g.2280 nucleotide ( Figure 2 ). However, no other mutations have been described in this short 173 bp region in other studies which have extensively sequenced the SCD promoter in independent Duroc lines [21]–[24], including the present study. In contrast, the g.2228T>C SNP is common to all the studies which have found a significant relationship between the SCD promoter genotype and fatty acid composition [21], [22].…”

Section: Discussionmentioning

confidence: 57%

“…Several single nucleotide polymorphisms (SNP) in the SCD promoter region have been associated to 18∶0 and 18∶1 content. Yet, results are inconclusive, as either the location of haplotypes is not coincident [21], [22], favorable alleles are swapped [23], or even no association was found [24]. We have been collecting since 2002 samples of subcutaneous fat, muscle, and liver from a full-pedigreed Duroc line [25] and muscle samples from three ad hoc pig crossbreds divergent for fatness.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A Functional Variant in the Stearoyl-CoA Desaturase Gene Promoter Enhances Fatty Acid Desaturation in Pork

et al. 2014

View full text Add to dashboard Cite

There is growing public concern about reducing saturated fat intake. Stearoyl-CoA desaturase (SCD) is the lipogenic enzyme responsible for the biosynthesis of oleic acid (18∶1) by desaturating stearic acid (18∶0). Here we describe a total of 18 mutations in the promoter and 3′ non-coding region of the pig SCD gene and provide evidence that allele T at AY487830:g.2228T>C in the promoter region enhances fat desaturation (the ratio 18∶1/18∶0 in muscle increases from 3.78 to 4.43 in opposite homozygotes) without affecting fat content (18∶0+18∶1, intramuscular fat content, and backfat thickness). No mutations that could affect the functionality of the protein were found in the coding region. First, we proved in a purebred Duroc line that the C-T-A haplotype of the 3 single nucleotide polymorphisms (SNPs) (g.2108C>T; g.2228T>C; g.2281A>G) of the promoter region was additively associated to enhanced 18∶1/18∶0 both in muscle and subcutaneous fat, but not in liver. We show that this association was consistent over a 10-year period of overlapping generations and, in line with these results, that the C-T-A haplotype displayed greater SCD mRNA expression in muscle. The effect of this haplotype was validated both internally, by comparing opposite homozygote siblings, and externally, by using experimental Duroc-based crossbreds. Second, the g.2281A>G and the g.2108C>T SNPs were excluded as causative mutations using new and previously published data, restricting the causality to g.2228T>C SNP, the last source of genetic variation within the haplotype. This mutation is positioned in the core sequence of several putative transcription factor binding sites, so that there are several plausible mechanisms by which allele T enhances 18∶1/18∶0 and, consequently, the proportion of monounsaturated to saturated fat.

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A Functional Variant in the Stearoyl-CoA Desaturase Gene Promoter Enhances Fatty Acid Desaturation in Pork

et al. 2014

View full text Add to dashboard Cite

show abstract

“…SCD , located at 120.96–120.98 Mb and encoding the main enzyme responsible for the desaturation of SFA to MUFA, is considered a very strong positional candidate gene for this QTL. SCD has been investigated as a candidate gene underlying fatty acid composition in pigs in several studies [15, 16, 25, 28–30] and different haplotypes with SCD variants have been found to be significant [30, 32]. After studying SNPs and haplotypes of SCD in different breeds, Estany and co-authors [28] suggested that the rs80912566 SNP, identified in Uemoto and co-authors [32], within the promoter region is the putative causative variant.…”

Section: Discussionmentioning

confidence: 99%

“…On SSC14, the stearoyl-CoA desaturase ( SCD ) gene strikes out as a potent positional candidate gene for fat desaturation. The gene has been investigated in several studies [28–32] and a putative causal variant in the promoter region has been identified [28]. …”

Section: Introductionmentioning

confidence: 99%

Genome-wide association study confirm major QTL for backfat fatty acid composition on SSC14 in Duroc pigs

et al. 2017

View full text Add to dashboard Cite

BackgroundFatty acid composition contributes importantly to meat quality and is essential to the nutritional value of the meat. Identification of genetic factors underlying levels of fatty acids can be used to breed for pigs with healthier meat. The aim of this study was to conduct genome-wide association studies (GWAS) to identify QTL regions affecting fatty acid composition in backfat from the pig breeds Duroc and Landrace.ResultsUsing data from the Axiom porcine 660 K array, we performed GWAS on 454 Duroc and 659 Landrace boars for fatty acid phenotypes measured by near-infrared spectroscopy (NIRS) technology (C16:0, C16:1n-7, C18:0, C18:1n-9, C18:2n-6, C18:3n-3, total saturated fatty acids, monounsaturated fatty acids and polyunsaturated fatty acids). Two QTL regions on SSC4 and SSC14 were identified in Duroc for the de novo synthesized fatty acids traits, whereas one QTL on SSC8 was detected in Landrace for C16:1n-7. The QTL region on SSC14 has been reported in previous studies and a putative causative mutation has been suggested in the promoter region of the SCD gene. Whole genome re-sequencing data was used for genotype imputation and to fine map the SSC14 QTL region in Norwegian Duroc. This effort confirms the location of the QTL on this chromosome as well as suggesting other putative candidate genes in the region. The most significant single nucleotide polymorphisms (SNPs) located on SSC14 explain between 55 and 76% of the genetic variance and between 27 and 54% of the phenotypic variance for the de novo synthesized fatty acid traits in Norwegian Duroc. For the QTL region on SSC8 in Landrace, the most significant SNP explained 19% of the genetic variance and 5% of the phenotypic variance for C16:1n-7.ConclusionsThis study confirms a major QTL affecting fatty acid composition on SSC14 in Duroc, which can be used in genetic selection to increase the level of fatty acid desaturation. The SSC14 QTL was not segregating in the Landrace population, but another QTL on SSC8 affecting C16:1n-7 was identified and might be used to increase the level of desaturation in meat products from this breed.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-017-3752-0) contains supplementary material, which is available to authorized users.

show abstract

The Lentiviral System Construction for Highly Expressed Porcine Stearoyl‐CoA Desaturase‐1 and Functional Characterization in Stably Transduced Porcine Swine Kidney Cells

Hwang

Singh

Long

et al. 2018

Lipids

View full text Add to dashboard Cite

The most highly regulated and abundant fatty acid in animal tissue is oleic acid (18:1n9). Oleic acid is synthesized by the Δ9 desaturase, stearoyl‐CoA desaturase‐1 (SCD1), which is responsible for the synthesis of the putative cytokine palmitoleic acid (16:1n7) and 18:2 cis‐9, trans‐11 conjugated linoleic acid. Owing to the importance of SCD1 in lipid metabolism, we generated porcine swine kidney (SK6) transgenic cell lines for sustained overexpression or knockdown of porcine stearoyl‐CoA desaturase‐1 (pSCD1) in an inducible manner by utilizing a lentiviral expression system. We successfully validated these cell culture models for expression and functionality of pSCD1 by documenting that the pSCD‐transduced cells overexpressed pSCD1 protein and mRNA. Additionally, the pSCD1‐transduced cells increased the conversion of palmitate (16:0) to palmitoleic acid nearly fourfold. The lentiviral vectors utilized in this study can be further used to generate transgenic animals to document the effects of the overexpression of SCD1 on obesity and steatosis.

show abstract

Fine mapping of porcine SSC14 QTL and SCD gene effects on fatty acid composition and melting point of fat in a Duroc purebred population

Cited by 36 publications

References 13 publications

A Functional Variant in the Stearoyl-CoA Desaturase Gene Promoter Enhances Fatty Acid Desaturation in Pork

A Functional Variant in the Stearoyl-CoA Desaturase Gene Promoter Enhances Fatty Acid Desaturation in Pork

Genome-wide association study confirm major QTL for backfat fatty acid composition on SSC14 in Duroc pigs

The Lentiviral System Construction for Highly Expressed Porcine Stearoyl‐CoA Desaturase‐1 and Functional Characterization in Stably Transduced Porcine Swine Kidney Cells

Contact Info

Product

Resources

About