Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-10-19

AUTHORS

Francesca Antonacci, Megan Y Dennis, John Huddleston, Peter H Sudmant, Karyn Meltz Steinberg, Jill A Rosenfeld, Mattia Miroballo, Tina A Graves, Laura Vives, Maika Malig, Laura Denman, Archana Raja, Andrew Stuart, Joyce Tang, Brenton Munson, Lisa G Shaffer, Chris T Amemiya, Richard K Wilson, Evan E Eichler

ABSTRACT

Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms and find that the rearrangement breakpoints cluster in palindromic GOLGA8 core duplicons, providing evidence that this repeat and its palindromic architecture underlie the evolutionary and disease-related instability of this region.

PAGES

1293-1302

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3120

    DOI

    http://dx.doi.org/10.1038/ng.3120

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1043919448

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25326701


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