The effects of leptin receptor (LEPR) and melanocortin-4 receptor (MC4R) polymorphisms on fat content, fat distribution and fat composition in a Duroc×Landrace/Large White cross

Galve, A.; Burgos, Carmen Mesas; Silió, L.; Varona, L.; Rodrı́guez, Carmen; Óvilo, Cristina; López‐Buesa, Pascual

doi:10.1016/j.livsci.2012.01.010

Cited by 25 publications

(21 citation statements)

References 28 publications

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“…In fact, a highly significant association of a polymorphism located in exon 14, LEPR c. 1987 C > T, with growth and fatness has been previously found in several generations of the IBMAP population [11,12]. These effects have been also confirmed in other porcine populations [58-61]. Moreover, functional studies have revealed differences in the LEPR mRNA expression levels in hypothalamus conditional on LEPR c.1987 C > T genotype [13] in agreement with the potential causal effect of this QTL on growth and fatness.…”

Section: Discussionmentioning

confidence: 69%

Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

Fernández¹,

Pérez-Montarelo²,

Barragán³

et al. 2012

BMC Genet

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BackgroundThe traditional strategy to map QTL is to use linkage analysis employing a limited number of markers. These analyses report wide QTL confidence intervals, making very difficult to identify the gene and polymorphisms underlying the QTL effects. The arrival of genome-wide panels of SNPs makes available thousands of markers increasing the information content and therefore the likelihood of detecting and fine mapping QTL regions. The aims of the current study are to confirm previous QTL regions for growth and body composition traits in different generations of an Iberian x Landrace intercross (IBMAP) and especially identify new ones with narrow confidence intervals by employing the PorcineSNP60 BeadChip in linkage analyses.ResultsThree generations (F3, Backcross 1 and Backcross 2) of the IBMAP and their related animals were genotyped with PorcineSNP60 BeadChip. A total of 8,417 SNPs equidistantly distributed across autosomes were selected after filtering by quality, position and frequency to perform the QTL scan. The joint and separate analyses of the different IBMAP generations allowed confirming QTL regions previously identified in chromosomes 4 and 6 as well as new ones mainly for backfat thickness in chromosomes 4, 5, 11, 14 and 17 and shoulder weight in chromosomes 1, 2, 9 and 13; and many other to the chromosome-wide signification level. In addition, most of the detected QTLs displayed narrow confidence intervals, making easier the selection of positional candidate genes.ConclusionsThe use of higher density of markers has allowed to confirm results obtained in previous QTL scans carried out with microsatellites. Moreover several new QTL regions have been now identified in regions probably not covered by markers in previous scans, most of these QTLs displayed narrow confidence intervals. Finally, prominent putative biological and positional candidate genes underlying those QTL effects are listed based on recent porcine genome annotation.

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Section: Discussionmentioning

confidence: 69%

Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

Fernández¹,

Pérez-Montarelo²,

Barragán³

et al. 2012

BMC Genet

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“…A highly significant and strong additive effect on fatness and growth has been reported for LEPR c.1987C>T polymorphism in this population [14]. Moreover, the effect of this SNP on growth and fatness has been confirmed in very different genetic backgrounds (crossbred Iberian x Meishan, Duroc x Iberian and Duroc x Landrace/Large White pigs) and growth stages [17]–[20]. In addition, differential LEPRb expression according to this SNP was found in hypothalamus [15].…”

Section: Introductionmentioning

confidence: 53%

“…In fact, previous studies reported effects of LEP and LEPR genes polymorphisms on fatty acid composition in backfat and muscle suggesting local effect of LEP-LEPR on fatty acids metabolism, specifically on oleic fatty acid level [16]. Similarly, Galve et al [20] suggested a local effect of LEP and LEPR in skeletal muscle to explain the changes in the proportions of saturated and unsaturated fatty acids observed in different muscle tissues. The present study has allowed a transcriptional characterization of LEP and LEPRa and LEPRb isoforms on a range of tissues.…”

Section: Discussionmentioning

confidence: 96%

Transcriptional Characterization of Porcine Leptin and Leptin Receptor Genes

et al. 2013

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The leptin (LEP) and its receptor (LEPR) regulate food intake and energy balance through hypothalamic signaling. However, the LEP-LEPR axis seems to be more complex and its expression regulation has not been well described. In pigs, LEP and LEPR genes have been widely studied due to their relevance. Previous studies reported significant effects of SNPs located in both genes on growth and fatness traits. The aim of this study was to determine the expression profiles of LEP and LEPR across hypothalamic, adipose, hepatic and muscle tissues in Iberian x Landrace backcrossed pigs and to analyze the effects of gene variants on transcript abundance. To our knowledge, non porcine LEPR isoforms have been described rather than LEPRb. A short porcine LEPR isoform (LEPRa), that encodes a protein lacking the intracellular residues responsible of signal transduction, has been identified for the first time. The LEPRb isoform was only quantifiable in hypothalamus while LEPRa appeared widely expressed across tissues, but at higher levels in liver, suggesting that both isoforms would develop different roles. The unique LEP transcript showed expression in backfat and muscle. The effects of gene variants on transcript expression revealed interesting results. The LEPRc.1987C>T polymorphism showed opposite effects on LEPRb and LEPRa hypothalamic expression. In addition, one out of the 16 polymorphisms identified in the LEPR promoter region revealed high differential expression in hepatic LEPRa. These results suggest a LEPR isoform-specific regulation at tissue level. Conversely, non-differential expression of LEP conditional on the analyzed polymorphisms could be detected, indicating that its regulation is likely affected by other mechanisms rather than gene sequence variants. The present study has allowed a transcriptional characterization of LEP and LEPR isoforms on a range of tissues. Their expression patterns seem to indicate that both molecules develop peripheral roles apart from their known hypothalamic signal transduction function.

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“…Plenty of QTL related to fatness were previously found in this re gion. A nonsynonymous polymorphism in this gene has been associated with increased feed intake and, as a consequence, with overall fatness, affecting both BT and IMF (Óvilo et al, 2005;Galve et al, 2012;Uemoto et al, 2012). Thus, the selection signature found in this region could indicate that selection for IMF also modified the haplotype frequencies at loci with nonspecific associations to all adipose depots.…”

Section: Discussionmentioning

confidence: 99%

Identification of signatures of selection for intramuscular fat and backfat thickness in two Duroc populations1

Kim

Ros‐Freixedes

Pena

et al. 2015

Journal of Animal Science

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Intramuscular fat (IMF) content is an important trait affecting the quality of pork. Two Duroc populations, one under positive selection for IMF and the other selected for decreased backfat but under stabilizing selection for IMF, were used to identify signatures of selection associated with IMF using 60,000 singlenucleotide polymorphism data. The effects of selection were analyzed between 2 lines or groups representing selected and control animals within each population using a discriminant analysis of principal components and Wright's fixation index (F ST ). Moreover, extended haplotype homozygosity-based approaches were used to examine the changes in haplotype frequency due to recent selection. Each statistical method identified 10-20 selection signatures. A few haplotype-based signatures of selection agreed with results from a genomewide association study (GWAS), while F ST measures showed a better agreement with GWAS results. Agreement of marker-trait associations and signatures of selection was limited, and further examination will be necessary to understand the effect of selection on IMF and why some regions identified by GWAS did not appear to respond to the selection practiced. The genes in 21 consensus selection signatures were examined. Several genes with an effect on overall fatness were identified, but further research is needed to assess whether or not some of them could have a specific effect on IMF.

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The effects of leptin receptor (LEPR) and melanocortin-4 receptor (MC4R) polymorphisms on fat content, fat distribution and fat composition in a Duroc×Landrace/Large White cross

Cited by 25 publications

References 28 publications

Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

Transcriptional Characterization of Porcine Leptin and Leptin Receptor Genes

Identification of signatures of selection for intramuscular fat and backfat thickness in two Duroc populations1

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