DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

DUF1220 domains show the largest human-lineage-specific increase in copy number of any protein-coding region in the human genome and map primarily to 1q21, where deletions and reciprocal duplications have been associated with microcephaly and macrocephaly, respectively. Given these findings and the...

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Main Authors: Dumas, Laura J., O’Bleness, Majesta S., Davis, Jonathan M., Dickens, C. Michael, Anderson, Nathan, Keeney, J.G., Jackson, Jay, Sikela, Megan, Raznahan, Armin, Giedd, Jay, Rapoport, Judith, Nagamani, Sandesh S.C., Erez, Ayelet, Brunetti-Pierri, Nicola, Sugalski, Rachel, Lupski, James R., Fingerlin, Tasha, Cheung, Sau Wai, Sikela, James M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511999/
https://ncbi.nlm.nih.gov/pubmed/22901949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.07.016
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