Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
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{"title"=>"Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X", "type"=>"journal", "authors"=>[{"first_name"=>"Barbara R.", "last_name"=>"Migeon", "scopus_author_id"=>"7004529625"}, {"first_name"=>"Michael A.", "last_name"=>"Beer", "scopus_author_id"=>"7101885059"}, {"first_name"=>"Hans T.", "last_name"=>"Bjornsson", "scopus_author_id"=>"7006975964"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"isbn"=>"1111111111", "issn"=>"19326203", "pmid"=>"28403217", "sgr"=>"85017559519", "pui"=>"615347407", "scopus"=>"2-s2.0-85017559519", "doi"=>"10.1371/journal.pone.0170403"}, "id"=>"2d108c76-c360-3681-a977-9837d2207658", "abstract"=>"To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that is present on all X chromosomes. To investigate the means by which the human active X is protected from silencing by XIST, we updated the search for a key dosage sensitive XIST repressor using new cytogenetic data with more precise resolution. Here, based on a previously unknown sex bias in copy number variations, we identify a unique region in our genome, and propose candidate genes that lie within, as they could inactivate XIST. Unlike males, the females who duplicate this region of chromosome 19 (partial 19 trisomy) do not survive embryogenesis; this preimplantation loss of females may be one reason that more human males are born than females.", "link"=>"http://www.mendeley.com/research/embryonic-loss-human-females-partial-trisomy-19-identifies-region-critical-single-active-x", "reader_count"=>13, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>1, "Researcher"=>2, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>1, "Student > Master"=>1, "Other"=>3}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>1, "Researcher"=>2, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>1, "Student > Master"=>1, "Other"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>6, "Medicine and Dentistry"=>2, "Agricultural and Biological Sciences"=>2, "Immunology and Microbiology"=>1, "Linguistics"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>2}, "Linguistics"=>{"Linguistics"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>6}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>1}

Scopus | Further Information

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