A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti
Publication Date
December 04, 2013
Journal
PLOS ONE
Authors
Rachel E. Towers, Leonardo Murgiano, David S. Millar, Elise Glen, et al
Volume
8
Issue
12
Pages
e81625
DOI
https://dx.plos.org/10.1371/journal.pone.0081625
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0081625
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/24324710
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852476
Europe PMC
http://europepmc.org/abstract/MED/24324710
Web of Science
000327949300100
Scopus
84891872291
Mendeley
http://www.mendeley.com/research/nonsense-mutation-ikbkg-gene-mares-incontinentia-pigmenti
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Mendeley | Further Information

{"title"=>"A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti", "type"=>"journal", "authors"=>[{"first_name"=>"Rachel E.", "last_name"=>"Towers", "scopus_author_id"=>"55993540400"}, {"first_name"=>"Leonardo", "last_name"=>"Murgiano", "scopus_author_id"=>"25633207200"}, {"first_name"=>"David S.", "last_name"=>"Millar", "scopus_author_id"=>"7102622556"}, {"first_name"=>"Elise", "last_name"=>"Glen", "scopus_author_id"=>"37761334900"}, {"first_name"=>"Ana", "last_name"=>"Topf", "scopus_author_id"=>"36916461000"}, {"first_name"=>"Vidhya", "last_name"=>"Jagannathan", "scopus_author_id"=>"7006778326"}, {"first_name"=>"Cord", "last_name"=>"Drögemüller", "scopus_author_id"=>"7005041360"}, {"first_name"=>"Judith A.", "last_name"=>"Goodship", "scopus_author_id"=>"7005401296"}, {"first_name"=>"Angus J.", "last_name"=>"Clarke", "scopus_author_id"=>"7403682653"}, {"first_name"=>"Tosso", "last_name"=>"Leeb", "scopus_author_id"=>"7006758115"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"24324710", "issn"=>"19326203", "sgr"=>"84891872291", "pui"=>"372081119", "scopus"=>"2-s2.0-84891872291", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "doi"=>"10.1371/journal.pone.0081625"}, "id"=>"329c1ef5-7c66-310f-9328-1ec96877370c", "abstract"=>"Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero. We observed a family of horses, in which several mares developed signs of a skin disorder reminiscent of human IP. Cutaneous manifestations in affected horses included the development of pruritic, exudative lesions soon after birth. These developed into wart-like lesions and areas of alopecia with occasional wooly hair re-growth. Affected horses also had streaks of darker and lighter coat coloration from birth. The observation that only females were affected together with a high number of spontaneous abortions suggested an X-linked dominant mechanism of transmission. Using next generation sequencing we sequenced the whole genome of one affected mare. We analyzed the sequence data for non-synonymous variants in candidate genes and found a heterozygous nonsense variant in the X-chromosomal IKBKG gene (c.184C>T; p.Arg62*). Mutations in IKBKG were previously reported to cause IP in humans and the homologous p.Arg62* variant has already been observed in a human IP patient. The comparative data thus strongly suggest that this is also the causative variant for the observed IP in horses. To our knowledge this is the first large animal model for IP.", "link"=>"http://www.mendeley.com/research/nonsense-mutation-ikbkg-gene-mares-incontinentia-pigmenti", "reader_count"=>16, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>1, "Student > Master"=>1, "Student > Bachelor"=>2, "Lecturer > Senior Lecturer"=>1, "Professor"=>1, "Unspecified"=>2}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>1, "Student > Master"=>1, "Student > Bachelor"=>2, "Lecturer > Senior Lecturer"=>1, "Professor"=>1, "Unspecified"=>2}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>2, "Medicine and Dentistry"=>3, "Agricultural and Biological Sciences"=>9, "Unspecified"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>3}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>9}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>2}, "Unspecified"=>{"Unspecified"=>2}}, "group_count"=>0}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1303071"], "description"=>"<p>The affected animals are shown as filled symbols. Non-affected animals are shown with open symbols. Males are shown as squares and females as circles; aborted foals (sex unknown) are shown as small black circles. The whole genome re-sequencing experiment was performed with DNA from animal II-8. The horse II-2 was killed in an accident and III-2 was born dead. Both deceased animals showed clear signs of IP.</p>", "links"=>[], "tags"=>["presented"], "article_id"=>868224, "categories"=>["Biological Sciences"], "users"=>["Rachel E. Towers", "Leonardo Murgiano", "David S. Millar", "Elise Glen", "Ana Topf", "Vidhya Jagannathan", "Cord Drögemüller", "Judith A. Goodship", "Angus J. Clarke", "Tosso Leeb"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0081625.g002", "stats"=>{"downloads"=>1, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Pedigree_of_the_horse_family_presented_in_this_study_/868224", "title"=>"Pedigree of the horse family presented in this study.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-04 03:29:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1303074"], "description"=>"a<p>Variants were called with respect to the reference genome (EquCab 2) from a Thoroughbred horse.</p>", "links"=>[], "tags"=>["genome", "sequencing"], "article_id"=>868227, "categories"=>["Biological Sciences"], "users"=>["Rachel E. Towers", "Leonardo Murgiano", "David S. Millar", "Elise Glen", "Ana Topf", "Vidhya Jagannathan", "Cord Drögemüller", "Judith A. Goodship", "Angus J. Clarke", "Tosso Leeb"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0081625.t001", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Summary_of_the_whole_genome_sequencing_experiment_/868227", "title"=>"Summary of the whole genome sequencing experiment.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-12-04 03:29:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1303072"], "description"=>"<p>Electropherograms of a homozygous wildtype and a heterozygous mare are shown. The reading frame and position of the nonsense variant are indicated. The variant is chrX:122,833,887C>T with respect to the EquCab 2 genome reference sequence.</p>", "links"=>[], "tags"=>["sequencing"], "article_id"=>868225, "categories"=>["Biological Sciences"], "users"=>["Rachel E. Towers", "Leonardo Murgiano", "David S. Millar", "Elise Glen", "Ana Topf", "Vidhya Jagannathan", "Cord Drögemüller", "Judith A. Goodship", "Angus J. Clarke", "Tosso Leeb"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0081625.g003", "stats"=>{"downloads"=>0, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Sanger_sequencing_of_the_IKBKG_c_184C_gt_T_variant_/868225", "title"=>"Sanger sequencing of the <i>IKBKG:c.184C>T</i> variant.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-04 03:29:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1303073"], "description"=>"a<p>The numbering of the exons corresponds to the situation in other mammals, which have an additional 5′-untranslated exon.</p>b<p>The coordinates correspond to the X-chromosome of the EquCab 2.0 genome reference assembly.</p>", "links"=>[], "tags"=>["equine"], "article_id"=>868226, "categories"=>["Biological Sciences"], "users"=>["Rachel E. Towers", "Leonardo Murgiano", "David S. Millar", "Elise Glen", "Ana Topf", "Vidhya Jagannathan", "Cord Drögemüller", "Judith A. Goodship", "Angus J. Clarke", "Tosso Leeb"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0081625.t002", "stats"=>{"downloads"=>2, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Exons_of_the_equine_IKBKG_gene_/868226", "title"=>"Exons of the equine <i>IKBKG</i> gene.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-12-04 03:29:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1303070"], "description"=>"<p>Brindled pigmentation and patches of hairless skin are visible. The hairless skin probably represents scarring alopecia following the different stages of skin lesions described. The patterns of hyperpigmentation and the skin alterations follow the lines of Blaschko. The depicted horse corresponds to animal III-10 in the pedigree shown in <a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081625#pone-0081625-g002\" target=\"_blank\">Figure 2</a>.</p>", "links"=>[], "tags"=>["affected"], "article_id"=>868223, "categories"=>["Biological Sciences"], "users"=>["Rachel E. Towers", "Leonardo Murgiano", "David S. Millar", "Elise Glen", "Ana Topf", "Vidhya Jagannathan", "Cord Drögemüller", "Judith A. Goodship", "Angus J. Clarke", "Tosso Leeb"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0081625.g001", "stats"=>{"downloads"=>1, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Phenotype_of_an_affected_horse_/868223", "title"=>"Phenotype of an affected horse.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-04 03:29:14"}

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Relative Metric

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