Brief Communication abstract


Nature Genetics 40, 158 - 160 (2008)
Published online: 6 January 2008 | doi:10.1038/ng.2007.55

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

Axel Visel1, Shyam Prabhakar1, Jennifer A Akiyama1, Malak Shoukry1, Keith D Lewis1, Amy Holt1, Ingrid Plajzer-Frick1, Veena Afzal1, Edward M Rubin1,2 & Len A Pennacchio1,2

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Extended perfect human-rodent sequence identity of at least 200 base pairs (ultraconservation) is potentially indicative of evolutionary or functional uniqueness. We used a transgenic mouse assay to compare the embryonic enhancer activity of 231 noncoding ultraconserved human genome regions with that of 206 extremely conserved regions lacking ultraconservation. Developmental enhancers were equally prevalent in both populations, suggesting instead that ultraconservation identifies a small, functionally indistinct subset of similarly constrained cis-regulatory elements.

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  1. Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.
  2. United States Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA.

Correspondence to: Len A Pennacchio1,2 e-mail: LAPennacchio@lbl.gov




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