Landscape and variation of novel retroduplications in 26 human populations
Publication Date
June 29, 2017
Authors
Yan Zhang, Shantao Li, Alexej Abyzov & Mark B. Gerstein
Volume
13
Issue
6
Pages
e1005567
DOI
https://dx.plos.org/10.1371/journal.pcbi.1005567
Publisher URL
http://journals.plos.org/ploscompbiol/article?id=10.1371%2Fjournal.pcbi.1005567
Scopus
85021720676
Mendeley
http://www.mendeley.com/research/landscape-variation-novel-retroduplications-26-human-populations
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Mendeley | Further Information

{"title"=>"Landscape and variation of novel retroduplications in 26 human populations", "type"=>"journal", "authors"=>[{"first_name"=>"Yan", "last_name"=>"Zhang", "scopus_author_id"=>"56888251700"}, {"first_name"=>"Shantao", "last_name"=>"Li", "scopus_author_id"=>"56687951400"}, {"first_name"=>"Alexej", "last_name"=>"Abyzov", "scopus_author_id"=>"8732206000"}, {"first_name"=>"Mark B.", "last_name"=>"Gerstein", "scopus_author_id"=>"24755400900"}], "year"=>2017, "source"=>"PLoS Computational Biology", "identifiers"=>{"sgr"=>"85021720676", "pmid"=>"28662076", "pui"=>"617155595", "issn"=>"15537358", "isbn"=>"1111111111", "scopus"=>"2-s2.0-85021720676", "doi"=>"10.1371/journal.pcbi.1005567"}, "id"=>"81523bb6-0916-3e04-b53a-8694bc73ccb2", "abstract"=>"Retroduplications come from reverse transcription of mRNAs and their insertion back into the genome. Here, we performed comprehensive discovery and analysis of retroduplications in a large cohort of 2,535 individuals from 26 human populations, as part of 1000 Genomes Phase 3. We developed an integrated approach to discover novel retroduplications combining high-coverage exome and low-coverage whole-genome sequencing data, utilizing information from both exon-exon junctions and discordant paired-end reads. We found 503 parent genes having novel retroduplications absent from the reference genome. Based solely on retroduplication variation, we built phylogenetic trees of human populations; these represent superpopulation structure well and indicate that variable retroduplications are effective population markers. We further identified 43 retroduplication parent genes differentiating superpopulations. This group contains several interesting insertion events, including a SLMO2 retroduplication and insertion into CAV3, which has a potential disease association. We also found retroduplications to be associated with a variety of genomic features: (1) Insertion sites were correlated with regular nucleosome positioning. (2) They, predictably, tend to avoid conserved functional regions, such as exons, but, somewhat surprisingly, also avoid introns. (3) Retroduplications tend to be co-inserted with young L1 elements, indicating recent retrotranspositional activity, and (4) they have a weak tendency to originate from highly expressed parent genes. Our investigation provides insight into the functional impact and association with genomic elements of retroduplications. We anticipate our approach and analytical methodology to have application in a more clinical context, where exome sequencing data is abundant and the discovery of retroduplications can potentially improve the accuracy of SNP calling.", "link"=>"http://www.mendeley.com/research/landscape-variation-novel-retroduplications-26-human-populations", "reader_count"=>22, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Researcher"=>9, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>2, "Student > Master"=>1, "Other"=>1, "Student > Bachelor"=>1, "Professor"=>2, "Lecturer"=>1}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Researcher"=>9, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>2, "Student > Master"=>1, "Other"=>1, "Student > Bachelor"=>1, "Professor"=>2, "Lecturer"=>1}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>6, "Agricultural and Biological Sciences"=>13, "Medicine and Dentistry"=>1, "Computer Science"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>13}, "Computer Science"=>{"Computer Science"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>6}}, "group_count"=>0}

Scopus | Further Information

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