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Two cis-regulatory SNPs upstream of ABCG2 synergistically cause the blue eggshell phenotype in the duck
- Source :
- PLoS Genetics, Vol 16, Iss 11, p e1009119 (2020), PLoS Genetics
- Publication Year :
- 2020
- Publisher :
- Public Library of Science (PLoS), 2020.
-
Abstract
- Avian eggshell color is an interesting genetic trait. Here, we report that the blue eggshell color of the domestic duck is caused by two cis-regulatory G to A transitions upstream of ABCG2, which encodes an efflux transporter. The juxtaposed blue eggshell allele A-A exhibited higher promoter activity and stronger nuclear protein binding capacity than the white eggshell allele G-G. Transcription factor analysis suggested differential binding capability of CTCF between blue eggshell and white eggshell alleles. Knockdown of CTCF expression significantly decreased the promoter activity of the blue eggshell but not the white eggshell allele. DNA methylation analysis revealed similar high methylation of the region upstream of the CTCF binding sites in both blue-eggshelled and white-eggshelled ducks. However, DNA methylation levels downstream of the binding sites were decreased and 35% lower in blue-eggshelled ducks than in white-eggshelled ducks. Consistent with the in vitro regulatory pattern of causative sites, ABCG2 exhibited higher expression in uteruses of blue-eggshelled ducks and also showed polarized distribution in their endometrial epithelial cells, distributing at the apical surface of endometrial epithelial cells and with orientation toward the uterine cavity, where the eggshell is pigmented. In conclusion, our results suggest that two cis-regulatory SNPs upstream of ABCG2 are the causative mutations for blue eggshells in ducks. The blue eggshell variant up-regulated ABCG2 expression through recruiting CTCF binding, which may function as a barrier element to shield the downstream region from high methylation levels present upstream. ABCG2 was identified as the only candidate causative gene for blue eggshells; it may function as an efflux transporter of biliverdin to the uterine cavity.<br />Author summary Avian eggshell color is an interesting genetic trait that has been related to numerous interesting biological functions, such as crypsis, mimicry, and protection from ultraviolet radiation. In ducks, blue eggshells are a dominant Mendelian trait. The color is preferred by customers and has become one of the main breeding targets in laying ducks in China. In this study, we identified that duck blue eggshells are likely caused by two cis-regulatory variations that synergistically up-regulate ABCG2 expression in the uterus. ABCG2 was identified as the only candidate causative gene for blue eggshell; it may function as an efflux transporter of biliverdin to the uterine cavity, where the eggshell is pigmented. Our study provides useful molecular markers for breeding of blue-eggshelled ducks.
- Subjects :
- 0106 biological sciences
Cancer Research
Physiology
Eggs
Single Nucleotide Polymorphisms
Waterfowl
QH426-470
medicine.disease_cause
01 natural sciences
Biochemistry
Poultry
Egg Shell
Reproductive Physiology
ATP Binding Cassette Transporter, Subfamily G, Member 2
Eggshell
Promoter Regions, Genetic
Genetics (clinical)
0303 health sciences
Mutation
DNA methylation
Pigmentation
Eukaryota
Methylation
Genomics
Small interfering RNA
Chromatin
Bird Eggs
Nucleic acids
Ducks
Phenotype
Vertebrates
Epigenetics
Chicken Eggs
Female
DNA modification
Chromatin modification
Research Article
Chromosome biology
Cell biology
animal structures
Color
Biology
010603 evolutionary biology
Polymorphism, Single Nucleotide
Birds
03 medical and health sciences
medicine
Genome-Wide Association Studies
Genetics
Animals
Binding site
Allele
Non-coding RNA
Molecular Biology
Transcription factor
Ecology, Evolution, Behavior and Systematics
Alleles
030304 developmental biology
Whole Genome Sequencing
Organisms
Biology and Life Sciences
Computational Biology
Human Genetics
DNA
Genome Analysis
Molecular biology
Gene regulation
CTCF
Fowl
Amniotes
RNA
Gene expression
Zoology
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 15537404 and 15537390
- Volume :
- 16
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- PLoS Genetics
- Accession number :
- edsair.doi.dedup.....c1cc05c9e378e9a10f10fa0474ab719b