Journal
NATURE GENETICS
Volume 45, Issue 4, Pages 406-414Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.2565
Keywords
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Categories
Funding
- US National Institutes of Health [RC1 GM091332-01, R01 HG006855, R01DK54931]
- Smith Family Foundation Award for Excellence in Biomedical Research
- Jackson State University [N01-HC-95170]
- University of Mississippi Medical Center [N01-HC-95171]
- Touglaoo College [N0I-HC-95172]
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute for Minority Health and Health Disparities (NIMHD)
- National Institute on Biomedical Imaging and Bioengineering (NIBIB)
- NHLBI [HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HH5N268201100010C, HHSN268201100011C, HHSN268201100012C]
- NHLBI in collaboration with the University of Alabama at Birmingham [N01-HC95095, N01-HC48047]
- University of Minnesota [N01-HC48048]
- Northwestern University [N01-HC48049]
- Kaiser Foundation Research Institute [N01-HC48050]
- MESA
- NHLBI in collaboration with the MESA investigators
- MESA [N0I-HC-95159, N01-HC-95169, RR-024156, R01-HL-071051, R01-HL-071205, R01-HL-071250, R01-HL-071251, R01-HL-071252, R01-HL071258, R01-HL-071259]
- US Environmental Protection Agency (EPA)-Science.to Achieve Results (STAR) [RD831697]
- [NO2-HL-6-4278]
- [NO1-HC-65226]
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Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces using the patterns of genome sequence variation created by population admixture. We mapped the locations of 70 scaffolds spanning 4 million base pairs of the human genome's unplaced euchromatic sequence, including more than a dozen protein-coding genes, and identified 8 new large interchromosomal segmental duplications. We find that most of these sequences are hidden in the genome's heterochromatin, particularly its pericentromeric regions. Many cryptic, pericentromeric genes are expressed at the RNA level and have been maintained intact for millions of years while their expression patterns diverged from those of paralogous genes elsewhere in the genome. We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies.
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