The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs

<i>BSCL2</i> encodes seipin, a transmembrane endoplasmic reticulum protein associated with lipodystrophy and severe metabolic complications, including diabetes and hepatic steatosis. In pigs, <i>BSCL2</i> expression increases during adipocyte differentiation. In the present s...

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Main Authors: Katarzyna Piórkowska, Julia Sroka, Kacper Żukowski, Karolina Zygmunt, Katarzyna Ropka-Molik, Mirosław Tyra
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Animals
Subjects:
Online Access:https://www.mdpi.com/2076-2615/13/4/641
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author Katarzyna Piórkowska
Julia Sroka
Kacper Żukowski
Karolina Zygmunt
Katarzyna Ropka-Molik
Mirosław Tyra
author_facet Katarzyna Piórkowska
Julia Sroka
Kacper Żukowski
Karolina Zygmunt
Katarzyna Ropka-Molik
Mirosław Tyra
author_sort Katarzyna Piórkowska
collection DOAJ
description <i>BSCL2</i> encodes seipin, a transmembrane endoplasmic reticulum protein associated with lipodystrophy and severe metabolic complications, including diabetes and hepatic steatosis. In pigs, <i>BSCL2</i> expression increases during adipocyte differentiation. In the present study, we identified significant gene variants associated with fat deposition (FD)-related processes based on subcutaneous fat tissue RNA-seq data. In the association study, to prove our hypothesis, three Polish pig breeds were included: Złotnicka White (ZW, <i>n</i> = 72), Polish Landrace (PL, <i>n</i> = 201), and Polish Large White (PLW, <i>n</i> = 169). Based on variant calling analysis and χ<sup>2</sup> tests, <i>BSCL2</i> mutations showing significantly different genotype/allele distribution between high- and low-fat pigs were selected for a comprehensive association study. Four interesting <i>BSCL2</i> variants (rs346079334, rs341493267, rs330154033, and rs81333153) belonging to downstream and missense mutations were investigated. Our study showed a significant decrease in minor allele frequency for two <i>BSCL2</i> variants (rs346079334 and rs341493267) in PL pigs in 2020–2021. In ZW, <i>BSCL2</i> mutations significantly affected loin and ham fats, meat redness, and growth performance traits, such as feed conversion and daily feed intake. Similar observations were noted for PLW and PL, where <i>BSCL2</i> mutations influenced fat depositions and meat traits, such as loin eye area, loin mass and fat, carcass yield, and growth performance traits. Based on the observation in pigs, our study supports the theory that <i>BSCL2</i> expressed in subcutaneous fat is involved in the FD process.
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spelling doaj.art-c70eed0e36cb461c8b48d1c253f256042023-11-16T18:39:29ZengMDPI AGAnimals2076-26152023-02-0113464110.3390/ani13040641The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in PigsKatarzyna Piórkowska0Julia Sroka1Kacper Żukowski2Karolina Zygmunt3Katarzyna Ropka-Molik4Mirosław Tyra5Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, PolandDepartment of Biotechnology and Horticulture, University of Agricultural in Kraków, 29-go Listopada 54, 31-425 Kraków, PolandDepartment of Cattle Breeding, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, PolandDepartment of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, PolandDepartment of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, PolandDepartment of Pig Breeding, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland<i>BSCL2</i> encodes seipin, a transmembrane endoplasmic reticulum protein associated with lipodystrophy and severe metabolic complications, including diabetes and hepatic steatosis. In pigs, <i>BSCL2</i> expression increases during adipocyte differentiation. In the present study, we identified significant gene variants associated with fat deposition (FD)-related processes based on subcutaneous fat tissue RNA-seq data. In the association study, to prove our hypothesis, three Polish pig breeds were included: Złotnicka White (ZW, <i>n</i> = 72), Polish Landrace (PL, <i>n</i> = 201), and Polish Large White (PLW, <i>n</i> = 169). Based on variant calling analysis and χ<sup>2</sup> tests, <i>BSCL2</i> mutations showing significantly different genotype/allele distribution between high- and low-fat pigs were selected for a comprehensive association study. Four interesting <i>BSCL2</i> variants (rs346079334, rs341493267, rs330154033, and rs81333153) belonging to downstream and missense mutations were investigated. Our study showed a significant decrease in minor allele frequency for two <i>BSCL2</i> variants (rs346079334 and rs341493267) in PL pigs in 2020–2021. In ZW, <i>BSCL2</i> mutations significantly affected loin and ham fats, meat redness, and growth performance traits, such as feed conversion and daily feed intake. Similar observations were noted for PLW and PL, where <i>BSCL2</i> mutations influenced fat depositions and meat traits, such as loin eye area, loin mass and fat, carcass yield, and growth performance traits. Based on the observation in pigs, our study supports the theory that <i>BSCL2</i> expressed in subcutaneous fat is involved in the FD process.https://www.mdpi.com/2076-2615/13/4/641seipin<i>BSCL2</i>pigfat depositionselective markersvariant calling
spellingShingle Katarzyna Piórkowska
Julia Sroka
Kacper Żukowski
Karolina Zygmunt
Katarzyna Ropka-Molik
Mirosław Tyra
The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
Animals
seipin
<i>BSCL2</i>
pig
fat deposition
selective markers
variant calling
title The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
title_full The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
title_fullStr The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
title_full_unstemmed The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
title_short The Effect of <i>BSCL2</i> Gene on Fat Deposition Traits in Pigs
title_sort effect of i bscl2 i gene on fat deposition traits in pigs
topic seipin
<i>BSCL2</i>
pig
fat deposition
selective markers
variant calling
url https://www.mdpi.com/2076-2615/13/4/641
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