An EAV-HP Insertion in 5′ Flanking Region of SLCO1B3 Causes Blue Eggshell in the Chicken
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{"title"=>"An EAV-HP Insertion in 5′ Flanking Region of SLCO1B3 Causes Blue Eggshell in the Chicken", "type"=>"journal", "authors"=>[{"first_name"=>"Zhepeng", "last_name"=>"Wang", "scopus_author_id"=>"36661611700"}, {"first_name"=>"Lujiang", "last_name"=>"Qu", "scopus_author_id"=>"7103292503"}, {"first_name"=>"Junfeng", "last_name"=>"Yao", "scopus_author_id"=>"14061436000"}, {"first_name"=>"Xiaolin", "last_name"=>"Yang", "scopus_author_id"=>"57191643334"}, {"first_name"=>"Guangqi", "last_name"=>"Li", "scopus_author_id"=>"55584465200"}, {"first_name"=>"Yuanyuan", "last_name"=>"Zhang", "scopus_author_id"=>"35800426600"}, {"first_name"=>"Junying", "last_name"=>"Li", "scopus_author_id"=>"36064053600"}, {"first_name"=>"Xiaotong", "last_name"=>"Wang", "scopus_author_id"=>"52063901300"}, {"first_name"=>"Jirong", "last_name"=>"Bai", "scopus_author_id"=>"57199656270"}, {"first_name"=>"Guiyun", "last_name"=>"Xu", "scopus_author_id"=>"7404264412"}, {"first_name"=>"Xuemei", "last_name"=>"Deng", "scopus_author_id"=>"7401768845"}, {"first_name"=>"Ning", "last_name"=>"Yang", "scopus_author_id"=>"35199367200"}, {"first_name"=>"Changxin", "last_name"=>"Wu", "scopus_author_id"=>"7501672386"}], "year"=>2013, "source"=>"PLoS Genetics", "identifiers"=>{"pui"=>"368295347", "issn"=>"15537390", "isbn"=>"1344-3941", "doi"=>"10.1371/journal.pgen.1003183", "scopus"=>"2-s2.0-84873511327", "pmid"=>"23359636", "sgr"=>"84873511327"}, "id"=>"4284ed44-1db9-34d5-ae59-b566f2e714f8", "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.", "link"=>"http://www.mendeley.com/research/eavhp-insertion-5-flanking-region-slco1b3-causes-blue-eggshell-chicken", "reader_count"=>37, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Professor > Associate Professor"=>2, "Student > Doctoral Student"=>2, "Researcher"=>5, "Student > Ph. D. Student"=>13, "Student > Postgraduate"=>2, "Student > Master"=>5, "Other"=>3, "Student > Bachelor"=>2, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Professor > Associate Professor"=>2, "Student > Doctoral Student"=>2, "Researcher"=>5, "Student > Ph. D. Student"=>13, "Student > Postgraduate"=>2, "Student > Master"=>5, "Other"=>3, "Student > Bachelor"=>2, "Professor"=>1}, "reader_count_by_subject_area"=>{"Engineering"=>1, "Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>5, "Agricultural and Biological Sciences"=>25, "Medicine and Dentistry"=>1, "Veterinary Science and Veterinary Medicine"=>1, "Psychology"=>1, "Immunology and Microbiology"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Psychology"=>{"Psychology"=>1}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>25}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Unspecified"=>{"Unspecified"=>2}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>1}}, "reader_count_by_country"=>{"South Korea"=>1, "United States"=>2, "Finland"=>1, "Brazil"=>1, "United Kingdom"=>3, "Mexico"=>1, "Peru"=>1}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/477990", "https://ndownloader.figshare.com/files/477992", "https://ndownloader.figshare.com/files/477994", "https://ndownloader.figshare.com/files/477995", "https://ndownloader.figshare.com/files/477999", "https://ndownloader.figshare.com/files/478006", "https://ndownloader.figshare.com/files/478013", "https://ndownloader.figshare.com/files/478017", "https://ndownloader.figshare.com/files/478019"], "description"=>"<div><p>The genetic determination of eggshell coloration has not been determined in birds. Here we report that the blue eggshell is caused by an <em>EAV-HP</em> insertion that promotes the expression of <em>SLCO1B3</em> 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 <em>F<sub>2</sub></em> 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. <em>SLCO1B3</em> 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 <em>SLCO1B3</em> from blue-shelled chickens was expressed in the uterus of heterozygous hens (<em>O*LC/O*N</em>). <em>SLCO1B3</em> 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 <em>SLCO1B3</em> and discovered an <em>EAV-HP</em> insertion in the 5′ flanking region of <em>SLCO1B3</em>. The <em>EAV-HP</em> insertion was found closely associated with blue eggshell phenotype following complete Mendelian segregation. <em>In situ</em> hybridization also demonstrated that the blue eggshell is associated with ectopic expression of <em>SLCO1B3</em> in shell glands of uterus. Our finding strongly suggests that the <em>EAV-HP</em> 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.</p> </div>", "links"=>[], "tags"=>["insertion", "flanking", "causes", "eggshell", "chicken"], "article_id"=>154199, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.s001", "https://dx.doi.org/10.1371/journal.pgen.1003183.s002", "https://dx.doi.org/10.1371/journal.pgen.1003183.s003", "https://dx.doi.org/10.1371/journal.pgen.1003183.s004", "https://dx.doi.org/10.1371/journal.pgen.1003183.s005", "https://dx.doi.org/10.1371/journal.pgen.1003183.s006", "https://dx.doi.org/10.1371/journal.pgen.1003183.s007", "https://dx.doi.org/10.1371/journal.pgen.1003183.s008", "https://dx.doi.org/10.1371/journal.pgen.1003183.s009"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/An_EAV_HP_Insertion_in_5_Flanking_Region_of_SLCO1B3_Causes_Blue_Eggshell_in_the_Chicken__/154199", "title"=>"An <em>EAV-HP</em> Insertion in 5′ Flanking Region of <em>SLCO1B3</em> Causes Blue Eggshell in the Chicken", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-01-24 01:09:59"}
  • {"files"=>["https://ndownloader.figshare.com/files/500981"], "description"=>"<p>(A) Eggshell colors of homozygous blue-shelled (<i>O*LC</i>/<i>O*LC</i>), heterozygous blue-shelled (<i>O*LC</i>/<i>O*N</i>) and brown-shelled (<i>O*N</i>/<i>O*N</i>) of Dongxiang chickens. (B) The expression analysis of the four genes which are located in the refined region between markers L4 and L5 in the uterus of Dongxiang blue-shelled hens (n = 16) and Dongxiang non-blue-shelled hens (n = 16) by RT-PCRs. DX-BS: blue-shelled Dongxiang, DX-NBS: non-blue-shelled Dongxiang. (C) Analysis of <i>SLCO1B3</i> expression in the uterus. Expression data were presented as fold relative to heterozygous blue-shelled Dongxiang chickens (<i>O*LC</i>/<i>O*N</i>) by the comparative C<sub>t</sub> method (2<sup>−ΔΔCt</sup>). <i>SLCO1B3</i> is exclusively expressed in blue-shelled chickens, and the amount of <i>SLCO1B3</i> transcripts in homozygous blue-shelled chicken (<i>O*LC</i>/<i>O*LC</i>) is approximately two to three folds of that in heterozygous individuals (<i>O*LC</i>/<i>O*N</i>). DX-BS: blue-shelled Dongxiang, LS-BS: blue-shelled Lushi, DX-NBS: non-blue-shelled Dongxiang, LS-NBS: non-blue-shelled Lushi. (D) Micrographs of cDNA <i>in situ</i> hybridization for <i>SLCO1B3</i> mRNA in the uterus from blue-shelled and non-blue-shelled chickens. (E) Differential expression of <i>SLCO1B3</i> transcript in the uterus from blue-shelled heterozygotes using genomic DNA (gDNA) as control. The polymorphic position <i>g. 67334934</i> G>T was used to monitor differential expression using pyrosequencing. T and G at this position correspond to blue-shell and non-blue-shell alleles, respectively. Due to two Ts next to the SNP at 3′end, the peaks of T in the schema contain three Ts including one T from blue-shell allele and two Ts from non-blue-shell allele. The percent expression on the peaks for T and G are the T or G at <i>g. 67334934</i> G>T. (F) Summary of the detection of differential expression in uterus and liver from six heterozygotous blue-shelled (<i>O*LC/O*N</i>) birds.</p>", "links"=>[], "tags"=>["eggshell", "uterus", "blue-shelled", "non-blue-shelled"], "article_id"=>171486, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.g001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_The_eggshell_color_and_the_expression_of_SLCO1B3_in_the_uterus_of_blue_shelled_and_non_blue_shelled_chickens_/171486", "title"=>"The eggshell color and the expression of <i>SLCO1B3</i> in the uterus of blue-shelled and non-blue-shelled chickens.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-24 00:24:46"}
  • {"files"=>["https://ndownloader.figshare.com/files/501103"], "description"=>"<p>The black bar represents the short arm of chicken chromosome 1. Numbers in middle column are recombination fractions between markers and <i>O</i>, the corresponding LOD scores are shown in the last column. Here, <i>O</i> is assigned to the interval of L4 and L5 at Chr1: 67296991–67419904. Four candidate genes in the interval, <i>EAV-HP</i> insertion with recombination fraction and LOD in the parentheses, <i>SRY (sex determining region Y)-box 5</i> (<i>SOX5</i>) for pea comb phenotype <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003183#pgen.1003183-Wright1\" target=\"_blank\">[17]</a>, <i>ev1</i> marker <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003183#pgen.1003183-Bartlet1\" target=\"_blank\">[16]</a> are indicated at the left of the black bar.</p>", "links"=>[], "tags"=>["localization", "chromosome"], "article_id"=>171610, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.g002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Refined_localization_of_O_on_chicken_chromosome_1_/171610", "title"=>"Refined localization of <i>O</i> on chicken chromosome 1.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-24 00:26:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/501247"], "description"=>"<p>(A) Schematic diagram of the relationship of a complete avian leukosis virus and the <i>EAV-HP</i> retrovirus. Some putative <i>cis</i>-regulatory elements in long terminal repeat (LTR) are underlined. The diagram was redrawn by referencing Sacco et al. <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003183#pgen.1003183-Sacco1\" target=\"_blank\">[22]</a>. (B) Arrangement of <i>EAV-HP</i> retrovirus and <i>SLCO1B3</i> in chicken genome. <i>EAV-HP</i> integrates into the 5′ end of <i>SLCO1B3</i> in inverted orientation. When <i>SLCO1B3</i> is transcribed, an extra 24-bp sequence from the <i>EAV-HP</i> is also compiled into <i>SLCO1B3</i> transcript. The asterisk indicates the site of 24-bp sequence from <i>EAV-HP</i>, and arrows indicate the direction of transcription. (C) <i>EAV-HP</i> junction sites in blue-shelled chickens of Dongxiang, Lushi and Araucana breeds. The arrows show the <i>EAV-HP</i> inserted sites and the underlined sequences are the <i>EAV-HP</i> integration specific sequences. The sequences in red denote the inserted <i>EAV-HP</i>.</p>", "links"=>[], "tags"=>["insertion", "blue-shelled"], "article_id"=>171755, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.g003"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_The_EAV_HP_insertion_in_blue_shelled_chickens_/171755", "title"=>"The <i>EAV-HP</i> insertion in blue-shelled chickens.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-24 00:29:15"}
  • {"files"=>["https://ndownloader.figshare.com/files/501382"], "description"=>"a<p>Both homozygous and heterozygous hens in these populations lay blue-shelled eggs. Dongxiang and Lushi blue-shelled chickens are from China and Araucana chickens are from South America.</p>b<p><i>EAV-HP</i> is the only one mutation showing complete association with blue eggshell phenotype. The “+” sign indicates that <i>EAV-HP</i> insertion is positive, while the “−” sign indicates no <i>EAV-HP</i>.</p>c<p>All detected blue-shelled chickens carry EAV-HP insertion and the frequency of “+” allele is not equal to 1 in blue-shelled groups because some birds are heterozygotes (+/−).</p>", "links"=>[], "tags"=>["allelic", "frequencies", "snps", "blue-shelled", "non-blue-shelled"], "article_id"=>171886, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.t001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Distribution_of_allelic_frequencies_of_SNPs_and_EAV_HP_in_SLCO1B3_in_several_blue_shelled_and_non_blue_shelled_breeds_/171886", "title"=>"Distribution of allelic frequencies of SNPs and <i>EAV-HP</i> in <i>SLCO1B3</i> in several blue-shelled and non-blue-shelled breeds.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-24 00:31:26"}
  • {"files"=>["https://ndownloader.figshare.com/files/501426"], "description"=>"a<p>The “+” sign indicates a positive result of insertion, and the “−” denotes no insertion.</p>b<p>The “<i>O*LA</i>” is for the blue-shell allele in Araucana.</p>", "links"=>[], "tags"=>["insertion", "distributions"], "article_id"=>171936, "categories"=>["Genetics", "Evolutionary Biology"], "users"=>["Zhepeng Wang", "Lujiang Qu", "Junfeng Yao", "Xiaolin Yang", "Guangqi Li", "Yuanyuan Zhang", "Junying Li", "Xiaotong Wang", "Jirong Bai", "Guiyun Xu", "Xuemei Deng", "Ning Yang", "Changxin Wu"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003183.t002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_EAV_HP_insertion_distributions_in_various_populations_/171936", "title"=>"<i>EAV-HP</i> insertion distributions in various populations.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-24 00:32:16"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"20", "full-text"=>"17", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"10", "cited-by"=>"1", "year"=>"2015", "month"=>"11"}
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Relative Metric

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