Identification of a second gene associated with variation in vertebral number in domestic pigs

<p>Abstract</p> <p>Background</p> <p>The number of vertebrae in pigs varies and is associated with body size. Wild boars have 19 vertebrae, but European commercial breeds for pork production have 20 to 23 vertebrae. We previously identified two quantitative trait loci (...

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Main Authors: Imaeda Noriaki, Yoshioka Gou, Morozumi Takeya, Nii Masahiro, Sato Shuji, Mikawa Satoshi, Yamaguchi Tsuneko, Hayashi Takeshi, Awata Takashi
Format: Article
Language:English
Published: BMC 2011-01-01
Series:BMC Genetics
Online Access:http://www.biomedcentral.com/1471-2156/12/5
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author Imaeda Noriaki
Yoshioka Gou
Morozumi Takeya
Nii Masahiro
Sato Shuji
Mikawa Satoshi
Yamaguchi Tsuneko
Hayashi Takeshi
Awata Takashi
author_facet Imaeda Noriaki
Yoshioka Gou
Morozumi Takeya
Nii Masahiro
Sato Shuji
Mikawa Satoshi
Yamaguchi Tsuneko
Hayashi Takeshi
Awata Takashi
author_sort Imaeda Noriaki
collection DOAJ
description <p>Abstract</p> <p>Background</p> <p>The number of vertebrae in pigs varies and is associated with body size. Wild boars have 19 vertebrae, but European commercial breeds for pork production have 20 to 23 vertebrae. We previously identified two quantitative trait loci (QTLs) for number of vertebrae on <it>Sus scrofa </it>chromosomes (SSC) 1 and 7, and reported that an orphan nuclear receptor, <it>NR6A1</it>, was located at the QTL on SSC1. At the <it>NR6A1 </it>locus, wild boars and Asian local breed pigs had the wild-type allele and European commercial-breed pigs had an allele associated with increased numbers of vertebrae (number-increase allele).</p> <p>Results</p> <p>Here, we performed a map-based study to define the other QTL, on SSC7, for which we detected genetic diversity in European commercial breeds. Haplotype analysis with microsatellite markers revealed a 41-kb conserved region within all the number-increase alleles in the present study. We also developed single nucleotide polymorphisms (SNPs) in the 450-kb region around the QTL and used them for a linkage disequilibrium analysis and an association study in 199 independent animals. Three haplotype blocks were detected, and SNPs in the 41-kb region presented the highest associations with the number of vertebrae. This region encodes an uncharacterized hypothetical protein that is not a member of any other known gene family. Orthologs appear to exist not only in mammals but also birds and fish. This gene, which we have named <it>vertnin </it>(<it>VRTN</it>) is a candidate for the gene associated with variation in vertebral number. In pigs, the number-increase allele was expressed more abundantly than the wild-type allele in embryos. Among candidate polymorphisms, there is an insertion of a SINE element (PRE1) into the intron of the Q allele as well as the SNPs in the promoter region.</p> <p>Conclusions</p> <p>Genetic diversity of <it>VRTN </it>is the suspected cause of the heterogeneity of the number of vertebrae in commercial-breed pigs, so the polymorphism information should be directly useful for assessing the genetic ability of individual animals. The number-increase allele of swine <it>VRTN </it>was suggested to add an additional thoracic segment to the animal. Functional analysis of <it>VRTN </it>may provide novel findings in the areas of developmental biology.</p>
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spelling doaj.art-c48a6251b0c44f828a882086a9e26e512022-12-22T00:27:48ZengBMCBMC Genetics1471-21562011-01-01121510.1186/1471-2156-12-5Identification of a second gene associated with variation in vertebral number in domestic pigsImaeda NoriakiYoshioka GouMorozumi TakeyaNii MasahiroSato ShujiMikawa SatoshiYamaguchi TsunekoHayashi TakeshiAwata Takashi<p>Abstract</p> <p>Background</p> <p>The number of vertebrae in pigs varies and is associated with body size. Wild boars have 19 vertebrae, but European commercial breeds for pork production have 20 to 23 vertebrae. We previously identified two quantitative trait loci (QTLs) for number of vertebrae on <it>Sus scrofa </it>chromosomes (SSC) 1 and 7, and reported that an orphan nuclear receptor, <it>NR6A1</it>, was located at the QTL on SSC1. At the <it>NR6A1 </it>locus, wild boars and Asian local breed pigs had the wild-type allele and European commercial-breed pigs had an allele associated with increased numbers of vertebrae (number-increase allele).</p> <p>Results</p> <p>Here, we performed a map-based study to define the other QTL, on SSC7, for which we detected genetic diversity in European commercial breeds. Haplotype analysis with microsatellite markers revealed a 41-kb conserved region within all the number-increase alleles in the present study. We also developed single nucleotide polymorphisms (SNPs) in the 450-kb region around the QTL and used them for a linkage disequilibrium analysis and an association study in 199 independent animals. Three haplotype blocks were detected, and SNPs in the 41-kb region presented the highest associations with the number of vertebrae. This region encodes an uncharacterized hypothetical protein that is not a member of any other known gene family. Orthologs appear to exist not only in mammals but also birds and fish. This gene, which we have named <it>vertnin </it>(<it>VRTN</it>) is a candidate for the gene associated with variation in vertebral number. In pigs, the number-increase allele was expressed more abundantly than the wild-type allele in embryos. Among candidate polymorphisms, there is an insertion of a SINE element (PRE1) into the intron of the Q allele as well as the SNPs in the promoter region.</p> <p>Conclusions</p> <p>Genetic diversity of <it>VRTN </it>is the suspected cause of the heterogeneity of the number of vertebrae in commercial-breed pigs, so the polymorphism information should be directly useful for assessing the genetic ability of individual animals. The number-increase allele of swine <it>VRTN </it>was suggested to add an additional thoracic segment to the animal. Functional analysis of <it>VRTN </it>may provide novel findings in the areas of developmental biology.</p>http://www.biomedcentral.com/1471-2156/12/5
spellingShingle Imaeda Noriaki
Yoshioka Gou
Morozumi Takeya
Nii Masahiro
Sato Shuji
Mikawa Satoshi
Yamaguchi Tsuneko
Hayashi Takeshi
Awata Takashi
Identification of a second gene associated with variation in vertebral number in domestic pigs
BMC Genetics
title Identification of a second gene associated with variation in vertebral number in domestic pigs
title_full Identification of a second gene associated with variation in vertebral number in domestic pigs
title_fullStr Identification of a second gene associated with variation in vertebral number in domestic pigs
title_full_unstemmed Identification of a second gene associated with variation in vertebral number in domestic pigs
title_short Identification of a second gene associated with variation in vertebral number in domestic pigs
title_sort identification of a second gene associated with variation in vertebral number in domestic pigs
url http://www.biomedcentral.com/1471-2156/12/5
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