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

Moro C, Cornette R, Vieaud A, Bruneau N, Gourichon D, Bed'hom B, Tixier-Boichard M - PLoS ONE (2015)

Bottom Line: Analysis of variance showed highly significant effects of line and sex on comb measurements.BW significantly influenced comb mass but not comb size.It may be concluded that heterozygosity for a CNV in a non-coding region may contribute to phenotypic plasticity.

View Article: PubMed Central - PubMed

Affiliation: Institut National de la Recherche Agronomique, AgroParisTech, UMR1313 Animal Genetics and Integrative Biology, Jouy-en-Josas, France.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Frequency distribution of the number of repeats (RQ values) for the SOX5-CNV in females for each experimental line (CH1, WL-DJ and NOE) according to genotype for the Pea-Comb genotype (Het = heterozygous; Ho = homozygous).All animals of the CH1 line are homozygous.
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pone.0118706.g004: Frequency distribution of the number of repeats (RQ values) for the SOX5-CNV in females for each experimental line (CH1, WL-DJ and NOE) according to genotype for the Pea-Comb genotype (Het = heterozygous; Ho = homozygous).All animals of the CH1 line are homozygous.

Mentions: In females, RQ values for homozygous carriers of Pea-comb from all lines were always higher than 32, whereas the RQ values of heterozygous carriers of Pea-comb in lines WL-DJ and NOE were lower than 30 except for two heterozygous NOE females which exhibited a higher RQ value (Fig. 4). Thus, it would be possible to consider that all ND females showing a RQ value below 30 units were heterozygous for Pea-comb, which would represent 5 females of the NOE line and 10 of the WL-DJ line. In males, however, the RQ values of heterozygous males greatly overlapped with RQ values of homozygous males in the NOE line, and there was no homozygous male in the WL-DJ line, so it was not possible to suggest a Pea-comb genotype for the ND males (Fig. 5).


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

Moro C, Cornette R, Vieaud A, Bruneau N, Gourichon D, Bed'hom B, Tixier-Boichard M - PLoS ONE (2015)

Frequency distribution of the number of repeats (RQ values) for the SOX5-CNV in females for each experimental line (CH1, WL-DJ and NOE) according to genotype for the Pea-Comb genotype (Het = heterozygous; Ho = homozygous).All animals of the CH1 line are homozygous.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4358827&req=5

pone.0118706.g004: Frequency distribution of the number of repeats (RQ values) for the SOX5-CNV in females for each experimental line (CH1, WL-DJ and NOE) according to genotype for the Pea-Comb genotype (Het = heterozygous; Ho = homozygous).All animals of the CH1 line are homozygous.
Mentions: In females, RQ values for homozygous carriers of Pea-comb from all lines were always higher than 32, whereas the RQ values of heterozygous carriers of Pea-comb in lines WL-DJ and NOE were lower than 30 except for two heterozygous NOE females which exhibited a higher RQ value (Fig. 4). Thus, it would be possible to consider that all ND females showing a RQ value below 30 units were heterozygous for Pea-comb, which would represent 5 females of the NOE line and 10 of the WL-DJ line. In males, however, the RQ values of heterozygous males greatly overlapped with RQ values of homozygous males in the NOE line, and there was no homozygous male in the WL-DJ line, so it was not possible to suggest a Pea-comb genotype for the ND males (Fig. 5).

Bottom Line: Analysis of variance showed highly significant effects of line and sex on comb measurements.BW significantly influenced comb mass but not comb size.It may be concluded that heterozygosity for a CNV in a non-coding region may contribute to phenotypic plasticity.

View Article: PubMed Central - PubMed

Affiliation: Institut National de la Recherche Agronomique, AgroParisTech, UMR1313 Animal Genetics and Integrative Biology, Jouy-en-Josas, France.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus