An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken

PLoS Genet. 2013;9(1):e1003183. doi: 10.1371/journal.pgen.1003183. Epub 2013 Jan 24.

Abstract

The genetic determination of eggshell coloration has not been determined in birds. Here we report that the blue eggshell is caused by an EAV-HP insertion that promotes the expression of SLCO1B3 gene in the uterus (shell gland) of the oviduct in chicken. In this study, the genetic map location of the blue eggshell gene was refined by linkage analysis in an F(2) chicken population, and four candidate genes within the refined interval were subsequently tested for their expression levels in the shell gland of the uterus from blue-shelled and non-blue-shelled hens. SLCO1B3 gene was found to be the only one expressed in the uterus of blue-shelled hens but not in that of non-blue-shelled hens. Results from a pyrosequencing analysis showed that only the allele of SLCO1B3 from blue-shelled chickens was expressed in the uterus of heterozygous hens (O*LC/O*N). SLCO1B3 gene belongs to the organic anion transporting polypeptide (OATP) family; and the OATPs, functioning as membrane transporters, have been reported for the transportation of amphipathic organic compounds, including bile salt in mammals. We subsequently resequenced the whole genomic region of SLCO1B3 and discovered an EAV-HP insertion in the 5' flanking region of SLCO1B3. The EAV-HP insertion was found closely associated with blue eggshell phenotype following complete Mendelian segregation. In situ hybridization also demonstrated that the blue eggshell is associated with ectopic expression of SLCO1B3 in shell glands of uterus. Our finding strongly suggests that the EAV-HP insertion is the causative mutation for the blue eggshell phenotype. The insertion was also found in another Chinese blue-shelled breed and an American blue-shelled breed. In addition, we found that the insertion site in the blue-shelled chickens from Araucana is different from that in Chinese breeds, which implied independent integration events in the blue-shelled chickens from the two continents, providing a parallel evolutionary example at the molecular level.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Flanking Region / genetics
  • Alleles
  • Animals
  • Avian Proteins / genetics*
  • Chickens / genetics*
  • Chickens / metabolism
  • Color*
  • Egg Shell / metabolism*
  • Female
  • Genetic Linkage
  • Genome
  • INDEL Mutation*
  • Male
  • Organic Anion Transporters / genetics*
  • Organic Anion Transporters, Sodium-Independent / genetics*
  • Pigmentation / genetics
  • Sequence Analysis, DNA

Substances

  • Avian Proteins
  • Organic Anion Transporters
  • Organic Anion Transporters, Sodium-Independent

Grants and funding

This work was supported in part by grants from National Nature Science Foundation (31072024), Programs for Changjiang Scholars and Innovative Research in University (IRT1191), National Scientific Supporting Projects of China (2011BAD28B03 and 2008AA101002), China Agriculture Research Systems (CARS-41), and Program for New Century Excellent Talents of the Ministry of Education of China (NCET-09-0730). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.