Heterozygote Advantage for Fecundity
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{"title"=>"Heterozygote advantage for fecundity", "type"=>"journal", "authors"=>[{"first_name"=>"Neil J.", "last_name"=>"Gemmell", "scopus_author_id"=>"7003864817"}, {"first_name"=>"Jon", "last_name"=>"Slate", "scopus_author_id"=>"7005567334"}], "year"=>2006, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"352579730", "sgr"=>"54949083416", "issn"=>"19326203", "pmid"=>"17205129", "scopus"=>"2-s2.0-54949083416", "doi"=>"10.1371/journal.pone.0000125", "isbn"=>"1932-6203 (Electronic) 1932-6203 (Linking)"}, "id"=>"b439fad8-5416-342b-a28e-64218233833b", "abstract"=>"Heterozygote advantage, or overdominance, remains a popular and persuasive explanation for the maintenance of genetic variation in natural populations in the face of selection. However, despite being first proposed more than 80 years ago, there remain few examples that fit the criteria for heterozygote advantage, all of which are associated with disease resistance and are maintained only in the presence of disease or other gene-by-environment interaction. Here we report five new examples of heterozygote advantage, based around polymorphisms in the BMP15 and GDF9 genes that affect female fecundity in domesticated sheep and are not reliant on disease for their maintenance. Five separate mutations in these members of the transforming growth factor beta (TGFbeta) superfamily give phenotypes with fitness differentials characteristic of heterozygous advantage. In each case, one copy of the mutant allele increases ovulation rate, and ultimately litter size per ewe lambing, relative to the wildtype. However, homozygous ewes inheriting mutant alleles from both parents have impaired oocyte development and maturation, which results in small undeveloped ovaries and infertility. Using data collected over many years on ovulation rates, litter size, and lambing rates, we have calculated the equilibrium solution for each of these polymorphisms using standard population genetic theory. The predicted equilibrium frequencies obtained for these mutant alleles range from 0.11 to 0.23, which are amongst the highest yet reported for a polymorphism maintained by heterozygote advantage. These are amongst the most frequent and compelling examples of heterozygote advantage yet described and the first documented examples of heterozygote advantage that are not reliant on a disease interaction for their maintenance.", "link"=>"http://www.mendeley.com/research/heterozygote-advantage-fecundity", "reader_count"=>83, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>13, "Researcher"=>16, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>19, "Student > Master"=>10, "Other"=>1, "Student > Bachelor"=>7, "Lecturer"=>3, "Lecturer > Senior Lecturer"=>4, "Professor"=>4}, "reader_count_by_user_role"=>{"Unspecified"=>3, "Professor > Associate Professor"=>13, "Researcher"=>16, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>19, "Student > Master"=>10, "Other"=>1, "Student > Bachelor"=>7, "Lecturer"=>3, "Lecturer > Senior Lecturer"=>4, "Professor"=>4}, "reader_count_by_subject_area"=>{"Unspecified"=>3, "Biochemistry, Genetics and Molecular Biology"=>7, "Medicine and Dentistry"=>5, "Agricultural and Biological Sciences"=>64, "Philosophy"=>1, "Veterinary Science and Veterinary Medicine"=>2, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>5}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>64}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>7}, "Unspecified"=>{"Unspecified"=>3}, "Philosophy"=>{"Philosophy"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>2}}, "reader_count_by_country"=>{"New Zealand"=>1, "Netherlands"=>1, "United States"=>5, "China"=>1, "Brazil"=>1, "United Kingdom"=>2, "Spain"=>2}, "group_count"=>4}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/954337"], "description"=>"<p>Genotypes and the fitness differentiations (w) for the Inverdale mutation (FecXI).</p>", "links"=>[], "tags"=>["differentiations", "inverdale", "mutation"], "article_id"=>624636, "categories"=>["Evolutionary Biology", "Genetics"], "users"=>["Neil J. Gemmell", "Jon Slate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0000125.g001", "stats"=>{"downloads"=>1, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genotypes_and_the_fitness_differentiations_w_for_the_Inverdale_mutation_FecXI_/624636", "title"=>"Genotypes and the fitness differentiations (w) for the Inverdale mutation (FecXI).", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 12:58:11"}
  • {"files"=>["https://ndownloader.figshare.com/files/469043"], "description"=>"<div><p>Heterozygote advantage, or overdominance, remains a popular and persuasive explanation for the maintenance of genetic variation in natural populations in the face of selection. However, despite being first proposed more than 80 years ago, there remain few examples that fit the criteria for heterozygote advantage, all of which are associated with disease resistance and are maintained only in the presence of disease or other gene-by-environment interaction. Here we report five new examples of heterozygote advantage, based around polymorphisms in the <em>BMP15</em> and <em>GDF9</em> genes that affect female fecundity in domesticated sheep and are not reliant on disease for their maintenance. Five separate mutations in these members of the transforming growth factor β (<em>TGFβ</em>) superfamily give phenotypes with fitness differentials characteristic of heterozygous advantage. In each case, one copy of the mutant allele increases ovulation rate, and ultimately litter size per ewe lambing, relative to the wildtype. However, homozygous ewes inheriting mutant alleles from both parents have impaired oocyte development and maturation, which results in small undeveloped ovaries and infertility. Using data collected over many years on ovulation rates, litter size, and lambing rates, we have calculated the equilibrium solution for each of these polymorphisms using standard population genetic theory. The predicted equilibrium frequencies obtained for these mutant alleles range from 0.11 to 0.23, which are amongst the highest yet reported for a polymorphism maintained by heterozygote advantage. These are amongst the most frequent and compelling examples of heterozygote advantage yet described and the first documented examples of heterozygote advantage that are not reliant on a disease interaction for their maintenance.</p> </div>", "links"=>[], "tags"=>["heterozygote", "fecundity"], "article_id"=>152482, "categories"=>["Evolutionary Biology", "Genetics"], "users"=>["Neil J. Gemmell", "Jon Slate"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0000125", "stats"=>{"downloads"=>8, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Heterozygote_Advantage_for_Fecundity/152482", "title"=>"Heterozygote Advantage for Fecundity", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2006-12-27 00:41:22"}

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Relative Metric

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