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Evolutionary toggli...
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Zody, Michael C.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
(author)
Evolutionary toggling of the MAPT 17q21.31 inversion region
- Article/chapterEnglish2008
Publisher, publication year, extent ...
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2008-08-10
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Springer Science and Business Media LLC,2008
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-100873
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100873URI
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https://doi.org/10.1038/ng.193DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Using comparative sequencing approaches, we investigated the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism. We present a detailed, BAC-based sequence assembly of the inverted human H2 haplotype and compare it to the sequence structure and genetic variation of the corresponding 1.5-Mb region for the noninverted H1 human haplotype and that of chimpanzee and orangutan. We found that inversion of the MAPT region is similarly polymorphic in other great ape species, and we present evidence that the inversions occurred independently in chimpanzees and humans. In humans, the inversion breakpoints correspond to core duplications with the LRRC37 gene family. Our analysis favors the H2 configuration and sequence haplotype as the likely great ape and human ancestral state, with inversion recurrences during primate evolution. We show that the H2 architecture has evolved more extensive sequence homology, perhaps explaining its tendency to undergo microdeletion associated with mental retardation in European populations.
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Jiang, Zhaoshi
(author)
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Fung, Hon-Chung
(author)
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Antonacci, Francesca
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Hillier, LaDeana W
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Cardone, Maria Francesca
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Graves, Tina A
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Kidd, Jeffrey M
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Cheng, Ze
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Abouelleil, Amr
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Chen, Lin
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Wallis, John
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Glasscock, Jarret
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Wilson, Richard K
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Reily, Amy Denise
(author)
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Duckworth, Jaime
(author)
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Ventura, Mario
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Hardy, John
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Warren, Wesley C
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Eichler, Evan E
(author)
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Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi
(creator_code:org_t)
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In:Nature Genetics: Springer Science and Business Media LLC40:9, s. 1076-831061-40361546-1718
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Zody, Michael C.
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Jiang, Zhaoshi
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Fung, Hon-Chung
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Antonacci, Franc ...
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Hillier, LaDeana ...
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Cardone, Maria F ...
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Graves, Tina A
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Kidd, Jeffrey M
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Cheng, Ze
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Abouelleil, Amr
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Chen, Lin
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Wallis, John
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Glasscock, Jarre ...
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Wilson, Richard ...
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Reily, Amy Denis ...
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Duckworth, Jaime
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Ventura, Mario
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Hardy, John
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Warren, Wesley C
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Eichler, Evan E
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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Nature Genetics
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Uppsala University