Quantitative effect of a CNV on a morphological trait in chickens.

Copy Number Variation has been associated with morphological traits, developmental defects or disease susceptibility. The autosomal dominant Pea-comb mutation in chickens is due to the massive amplification of a CNV in intron 1 of SOX5 and provides a unique opportunity to assess the effect of variat...

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Main Authors: Céline Moro, Raphaël Cornette, Agathe Vieaud, Nicolas Bruneau, David Gourichon, Bertrand Bed'hom, Michèle Tixier-Boichard
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0118706
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author Céline Moro
Raphaël Cornette
Agathe Vieaud
Nicolas Bruneau
David Gourichon
Bertrand Bed'hom
Michèle Tixier-Boichard
author_facet Céline Moro
Raphaël Cornette
Agathe Vieaud
Nicolas Bruneau
David Gourichon
Bertrand Bed'hom
Michèle Tixier-Boichard
author_sort Céline Moro
collection DOAJ
description Copy Number Variation has been associated with morphological traits, developmental defects or disease susceptibility. The autosomal dominant Pea-comb mutation in chickens is due to the massive amplification of a CNV in intron 1 of SOX5 and provides a unique opportunity to assess the effect of variation in the number of repeats on quantitative traits such as comb size and comb mass in Pea-comb chickens. The quantitative variation of comb size was estimated by 2D morphometry and the number of repeats (RQ) was estimated by qPCR, in a total of 178 chickens from 3 experimental lines, two of them showing segregation for the Pea-comb mutation. This study included only Pea-comb chickens. Analysis of variance showed highly significant effects of line and sex on comb measurements. Adult body weight (BW) and RQ were handled as covariates. BW significantly influenced comb mass but not comb size. RQ values significantly influenced comb size, and the linear regression coefficient was highest for heterozygous carriers: the higher the number of repeats, the smaller the comb size. A similar trend was observed for comb mass. The CNV contributed to 3.4% of the phenotypic variance of comb size in heterozygous carriers of the CNV, an order of magnitude frequently encountered for QTLs. Surprisingly, there was no such relationship between RQ values and comb size in the homozygous line. It may be concluded that heterozygosity for a CNV in a non-coding region may contribute to phenotypic plasticity.
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spelling doaj.art-a41ac6eeede144afbfce5c171c3d94ea2022-12-21T19:12:07ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01103e011870610.1371/journal.pone.0118706Quantitative effect of a CNV on a morphological trait in chickens.Céline MoroRaphaël CornetteAgathe VieaudNicolas BruneauDavid GourichonBertrand Bed'homMichèle Tixier-BoichardCopy Number Variation has been associated with morphological traits, developmental defects or disease susceptibility. The autosomal dominant Pea-comb mutation in chickens is due to the massive amplification of a CNV in intron 1 of SOX5 and provides a unique opportunity to assess the effect of variation in the number of repeats on quantitative traits such as comb size and comb mass in Pea-comb chickens. The quantitative variation of comb size was estimated by 2D morphometry and the number of repeats (RQ) was estimated by qPCR, in a total of 178 chickens from 3 experimental lines, two of them showing segregation for the Pea-comb mutation. This study included only Pea-comb chickens. Analysis of variance showed highly significant effects of line and sex on comb measurements. Adult body weight (BW) and RQ were handled as covariates. BW significantly influenced comb mass but not comb size. RQ values significantly influenced comb size, and the linear regression coefficient was highest for heterozygous carriers: the higher the number of repeats, the smaller the comb size. A similar trend was observed for comb mass. The CNV contributed to 3.4% of the phenotypic variance of comb size in heterozygous carriers of the CNV, an order of magnitude frequently encountered for QTLs. Surprisingly, there was no such relationship between RQ values and comb size in the homozygous line. It may be concluded that heterozygosity for a CNV in a non-coding region may contribute to phenotypic plasticity.https://doi.org/10.1371/journal.pone.0118706
spellingShingle Céline Moro
Raphaël Cornette
Agathe Vieaud
Nicolas Bruneau
David Gourichon
Bertrand Bed'hom
Michèle Tixier-Boichard
Quantitative effect of a CNV on a morphological trait in chickens.
PLoS ONE
title Quantitative effect of a CNV on a morphological trait in chickens.
title_full Quantitative effect of a CNV on a morphological trait in chickens.
title_fullStr Quantitative effect of a CNV on a morphological trait in chickens.
title_full_unstemmed Quantitative effect of a CNV on a morphological trait in chickens.
title_short Quantitative effect of a CNV on a morphological trait in chickens.
title_sort quantitative effect of a cnv on a morphological trait in chickens
url https://doi.org/10.1371/journal.pone.0118706
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